Episode drop of “It Happened To Me” focusing on the rare disease Wolfram Syndrome.

Inozyme’s Chief Scientific Officer Dr. Yves Sabbagh and Co-President of GACI Global Christine O’Brien share their insight on these conditions.

Episode drop of N-Lorem’s “Patient Empowerment Podcast” discussing the importance of genomics for neurology. 

Episode drop of “It Happened To Me” exploring the genetics of rare optic neuropathies.

The genetic counselor at NextBio, a South African Biotech company, shares insight on preimplantation genetic testing (PGT) and testing on products of conception (POC) after a miscarriage.

“The Spring of Sight'' author discusses how computer vision technology could be utilized as a tool to diagnose genetic diseases based on pictures of physical features.

Praxis Genomics’ Chief Medical Officer explains how these genetic technologies can provide advantages over traditional testing methods.

Prenatal Genetic Counselor Blair Stevens provides insight on if we should continue utilizing genetic ancestry in the context of carrier screening.

Drs. Eric Green and Brendan Lee join our host Kira Dineen for our annual reflection and recap on the biggest genetics/genomics advancements this year!

Nebula Genomics Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome!

Living with XXY founder Ryan Bregante shares his personal experience with the condition and the impact of his organization on the community.

Cardio Genetic Counselor, YouTuber, and Patient Advocate Izzy Kornblau shares her expertise in Ehlers-Danlos Syndromes, she has personally been diagnosed with hypermobile EDS.

Exploring the “Genomic Wallet” to have our genetic information accessible with Igentify’s CEO, Doron Behar.

Marinus Pharmaceuticals’ Vice President in Clinical Development shares his insight on TSC including the status of the clinical trial.

Drs. Eric Green, Julian Barwell, and Fiona Brinkman discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice.

Genetic Counselors Catherine Mayo and Kira Dineen discuss this year’s NSGC conference in Chicago including their favorite sessions. 

Exploring the human element of report writing and interpretation and report writing of genetic testing with genetic counselors Meena Mahey Kumar and Laura Fuqua. 

We are sharing the first episode of a new 5 part CRISPR podcast series, A CRISPR Bite.

Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.

Genetic counselors, Tiana Rogers and Nira Johnson get personal about their experience with burnout.

Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.

Rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell, join us to talk about inborn errors of immunity including chronic granulomatous disease.

DNA Today’s Communication Lead, Corinne Merlino, shares about her rare congenital birth defect that affects craniofacial development and how it influenced her to become a genetic counselor.

Drs. Anjali Shastri and Ruth Tennen, of 23andMe, explore an important issue in healthcare, diversifying genetic research with a focus on sickle cell disease.

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter.

Genetic counselors, John Zimmerman and Daniel Riconda, explore the experience of being males in the field.

Researchers, Dr. Aimée Dudley and Dr. Andrea Gropman, and patient advocate, Tresa Warner, discuss the most common urea cycle disorder.

Dr. John Day and genetic counselor Carly Siskind discuss Duchenne Muscular Dystrophy and exon skipping therapeutics.

Advice focused on the personal statement of the on genetic counseling program applications. Featuring incoming grad students Corinne Merlino and Maya Patel, recorded in NBC’s Stamford Studios!

Advice on genetic counseling program applications with incoming grad students Corinne Merlino and Maya Patel, recorded in NBC’s Stamford Studios!

Step into our time machine to the genetic counseling field in the 70s with Virginia Corson.

Pride month discussion with genetic counselors Dr. Jehannine Austin, Andy Cantor Katie Gallagher, Jo Giblin, and Kira Dineen.

Dr. Richard Wenzel shares about his experience learning that his father was not his genetic father and commentary on how healthcare providers should disclose results to patients.

“You are (not) the father!” NBC’s Maury Povich joins us for a discussion on paternity testing.

Sneha Dave, Founder and Executive Director of Generation Patient, discusses her experience as a young adult patient advocate for ulcerative colitis.

Genetic Counselor Janice Berliner shares about her second genetics novel, “In Good Conscience”.

Genetic testing secondary findings and a study exploring what they mean for the patients who receive them. Learn more in this 30 minute podcast episode with a patient advocate and an expert from the NIH.

Australian cancer genetic counselor, Michelle Bowman discusses utilizing digital tools to reach patients who can benefit from cancer genetic counseling.

Genetic Counselor Susan Hanh shares new risk assessment advances like Quests tests and Patient Advocate Rebecca Chopp shares about her diagnosis and experience.

If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com.We are continuing our peek into the past! Last episode we explored the history of the genetic counseling field with Michelle Fox and Debra Collins who shared about the first annual National Society of Genetic Counselors (NSGC) conferences. In this episode we are learning about the formation of the American Board of Genetic Counseling (aka ABGC) with Ann Walker and Ed Kloza. Ann Platt Walker, MA, LCGC has held many leadership positions including the Founding President and Director of the American Board of Genetic Counseling (ABGC), President of the National Society of Genetic Counselors (NSGC) in 1982, and has been on the Board of Directors for the American Board of Medical Genetics (ABMG), American Society of Human Genetics (ASHG), and the American Council for Genetic Counseling (ACGC). During Ann’s career she held roles at the University of California, Irvine Medical Center including as the program director for the Master’s of Science in Genetic Counseling Program for over two decades. She has authored over 20 peer reviewed publications, 10 book chapters, and countless abstracts and presentations. Ann has been awarded many times through her impressive career including the Natalie Weissberger Paul National Achievement and Leadership Awards from NSGC.Ed Kloza, MS, LCGC was the first genetic counselor in Maine. He helped establish clinical genetics in Southern Maine and pioneered prenatal serum screening at the Foundation for Blood Research in Scarborough, and was a member of the team from Women & Infants Hospital of Rhode Island which published the first international clinical validation study of cell-free DNA screening. He was key in the development of the genetic counseling profession including as a past president of NSGC (the first, and one of only two males elected to that position), and in helping create  the American Board of Genetic Counseling (which we are focusing on today). In 2000, Ed was honored with the Natalie Weissberger Paul National Achievement Award. Currently Ed is the genetics education consultant for the New England Regional Genetics Network (NERGN) and is an adjunct Professor at Bay Path University with their graduate Genetic Counseling program.On This Episode We Discuss:The ABGC versus the NSGC and which came first!The early days of board examsWhat prompted the creation of the ABGC in 1992Challenges in forming ABGCThe original goals of ABGC as an organizationThe first ABGC president and other key playersWhen ABGC began to accredit genetic counseling programsEstablishing practice-based competenciesIf you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. You can learn more about ABGC by heading to their website, or by following them on Twitter, Facebook, and LinkedIn.  Stay tuned for the next new episode of DNA Today on May 12th, 2023, where we’ll be discussing risk assessment advances for Alzheimer’s disease! New episodes are released every Fridays. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know. Enter on Instagram, Twitter, and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning. Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC, who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101, 111, 135, and 212.Can’t wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023. —---------------------------------------------------------------------------------------------------------------------------We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins!Michelle Fox, MS, CGC, is an Adjunct Associate Professor of Pediatrics at UCLA. For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer and genetic neurodegenerative disorders. She is also a  faculty member of the UCLA Genetic Counseling Program. Michelle served on the Secretary’s Advisory Committee for Heritable Disorders of Newborns and Children Follow-up and Treatment sub-committee and on the National Society of Genetic Counselors Public Policy Newborn Screening Task Force in 2014. She was a member of the Western States Regional Genetics Network from 2010-2013. Michelle served on the American College of Medical Genetics and Genomics Hearing Loss Guidelines Committee (2013), the American Board of Genetic Counseling Engagement Task Force (2016) and the National Society of Genetic Counselors Conflict of Interest Task Force (2017-2018). She currently serves on the Mt. Sinai Medical Center Genetic Counseling Program Advisory Board, UCLA Genetic Counseling Program Advisory Board and was a member at large of the National Society of Genetic Counselors board of directors (2019-2020). Michelle was awarded the Natalie Weissberger Paul Lifetime Achievement Award 2022 recognizing her contributions to the field of genetic counseling!Debra Collins, M.S., CGC, has been a genetic counselor at University of Kansas Medical Center for four decades. She has been working there as a genetic counselor for about four decades and her current roles include being a hereditary cancer genetic counselor, with special expertise in von Hippel-Lindau syndrome, and advisor to the genetics and neoplasia medical school curricula.. She has been an active member of the NSGC, including being a past President, serving on the Board of Directors, the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the Jane Engelberg Memorial Fellowship  Special Award for an online course on grant writing for genetic counselors. Collins also had leadership roles in organizations such as the American Society of Human Genetics, The American Board of Genetic Counseling, and many family support / advocacy groups. Debra graduated from Sarah Lawrence College, the first genetic counseling program, with her Master’s Degree in Human Genetics. She has enjoyed working as a genetic counselor every day: providing education, advocating, counseling, translating complex information, and making a difference in the lives of patients and families. On This Episode We Discuss:Why it’s important to understand the history of the genetic counseling fieldWhy the year 1969 is an important one for the professionThe first annual education (NSGC) conferenceThe role of the March of DimesThe number of people who attended the first conferenceThe next few annual education conferencesWhat has changed since thenNSGC conferences todayIf you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. Stay tuned for part 2 of this series with Ed Kloza and Ann Walker where we will focus on the Formation of the American Board of Genetic Counseling (ABGC).You can learn more about the past, present, and future of NSGC conferences here!Stay tuned for the next new episode of DNA Today on May 5th, 2023 where we’ll be continuing this history of genetic counseling discussion by chatting about the formation of the ABGC with Ed Kloza and Ann Walker. New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

We are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then! As a prenatal genetic counselor, our host, Kira Dineen, is very intrigued to learn all about the new advances in non-invasive prenatal screening or NIPS. To see what’s new in at-home NIPS we are joined by experts from Juno Diagnostics (JunoDx), Katie Sagaser and Allison Rodgers!Katie Sagaser is the Director of Genetic Counseling at Juno Diagnostics. Katie’s team provides telehealth, prenatal genetic counseling services for patients undergoing Juno’s Hazel™ Non-Invasive Prenatal Screen – the first at-home, capillary-based NIPS for fetal aneuploidy. Prior to joining JunoDx, Katie was an assistant professor of Gynecology & Obstetrics in the Division of Maternal Fetal Medicine at the Johns Hopkins University School of Medicine. Katie’s professional interests center on equitable access to genetic testing and access to comprehensive reproductive health care throughout the lifespan. Most recently, she was the lead author on NSGC’s Practice Guidelines for Expanded (Equitable) Carrier Screening. A member of both the Society for Maternal Fetal Medicine Reproductive Health Advisory Group and NSGC's Public Policy Committee, Katie is also actively engaged in public policy work surrounding reproductive health and genetics. At Juno, Katie is passionate about using social and digital media to scale access to high-quality information on genetics and reproductive medicine.Dr. Allison Rodgers is a double board-certified OB-GYN and fertility doctor. She is currently the Director of Education at Fertility Centers of Illinois, a US Fertility Practice; additionally, she serves on the Clinical Advisory Board for Juno Diagnostics. Dr. Rodgers' personal experiences with secondary infertility and pregnancy loss inform her unique insights into reproductive medicine, contributing to compassionate and individualized patient care. She is published in top medical journals covering endometriosis, tubal factor infertility, in vitro fertilization, and donor sperm. Her special interests include in-vitro fertilization, endometriosis, polycystic ovarian syndrome, unexplained infertility, recurrent pregnancy loss, premature ovarian insufficiency, LGTBQIA+ fertility, reciprocal IVF, and transgender fertility. She completed her residency at Case Western Reserve-Metrohealth Medical Center Cleveland Clinic, followed by a fellowship at the University of Texas Health Science Center in San Antonio. You may recognize Dr. Rodgers from Tik Tok and Instagram where she shares fertility education with more than 1.3 million followers!On This Episode We Discuss:The inspiration behind JunoDx and their goal/missionWhat drew Katie and Allison to JunoDxHow JunoDx’s technology/approach differs from other companies to successfully perform NIPS on a much smaller sample volumeHow does Juno’s at-home approach to sample collection for NIPS increases accessibility, particularly those in underserved or remote areasThe difference between JunoDx’s 2 NIPS, Hazel and BirchDetermining sex of the baby with Birch NIPSConditions included in the more comprehensive Hazel screeningThe process of ordering Hazel or Birch NIPS, collecting the sample, to learning the resultsThe positive predictive value and negative predictive values of the tests, what these values mean, and how they compare to other NIPS and other at-home NIPSThe evolution and future of at-home NIPS tests, particularly related to advancements in technology and genetic testingTo learn more about Juno Dx, visit their website and Youtube and Pinterest pages. You can also follow Juno Dx on Twitter, Facebook, Instagram and TikTok. And be sure to follow Dr. Rodgers on Tik Tok and Instagram, and Katie Sagaser on Twitter and Instagram!Further Reading:Capillary blood collection: exploring a new method to promote noninvasive prenatal screening access "An exploration of methods to enable equitable access to non-invasive prenatal screening""Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing""Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma""Women In Wellness: Katie Sagaser of JunoDx On The Five Lifestyle Tweaks That Will Help Support People’s Journey Towards Better Wellbeing" Stay tuned for the next new episode of DNA Today on April 28th, 2023, where we’ll be going back in time to explore the history of the genetic counseling field. We are focusing on the first annual conference for genetic counselors which was in 1981, 54 years ago! Joining us for this conversation are two rockstars in the field of GC, Debra Collins & Michelle Fox! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here. Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon. On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field. My guest today is a fellow genetic counselor entrepreneur, Matt Tschirgi! Matt (he/him) performs contract work through his company, Genetix Consulting, LLC, in addition to being employed at a commercial lab. He has more than 15 years of combined experience in clinical and industry genetic counseling. Matt’s professional interests include prenatal genetics; academic and industry partnerships; and professional issues such as continuing education, multi-state licensure, and incorporating genetic counseling assistants in both clinical and industry settings. He earned his BS degree from Washington State University, and his MS in genetic counseling from University of Texas Health Science Center at Houston. Last year, Matt put a call out on Twitter and LinkedIn to fellow genetic counselors who are entrepreneurs to share their experiences for a student lecture he was putting together. This call generated a lot of interest and tons of responses, many of which we’ll be discussing in this episode!On this episode we discuss:The origin of LLC Genetix Consulting and the services they offerGenetic counseling skills that are transferable to being an entrepreneurCharging as an entrepreneur in genetics (fee ranges and payment models) Types of services that people provide (i.e., medical writing and editing, project management, variant curation, career/life/personality coaching, and more!)Challenges that people have facedWhat people love most about their businessesAdvice on getting your business started!If you’re interested in learning more about entrepreneurship and consulting in genetic counseling, we highly encourage you to follow Matt on Twitter, and check out these slides.Stay tuned for the next new episode of DNA Today on April 21st, 2023 where we’ll be discussing at-home non-invasive prenatal screening with JunoDx! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. It only takes 60 seconds to fill out. Thank you SO much!!In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout Podium) to write this content. We discuss the rise of AI chatbots like ChatGPT and BioGPT and their potential to transform healthcare and the genomics industry by assisting humans in interpreting vast amounts of genetic data. We delve into the importance of using AI-powered tools like ChatGPT to enhance our understanding of genomic data while maintaining privacy, and we discuss The Family Vault, which helps parents maintain ownership and control of their babies' genomic data. We also explore the challenges of implementing AI solutions in the clinical genomics industry, focusing on the importance of data provenance, quality, and privacy. Join us as we examine the future of data management in a hybrid world of centralized and decentralized databases, and learn about the exciting developments in the world of genetics.Daniel Uribe is the father of a rare disease child. He is an expert in cybersecurity, data laws, non-fungible tokens (NFTs) and genomics. Daniel is the inventor of BioNFTs to tokenize revocable digital rights over human biosamples and derived biodata based on data privacy laws to enable ethical AI training in genomics and healthcare.Top 10 Keypoints:AI chatbots like ChatGPT and BioGPT are transforming healthcare and genomics by assisting humans in interpreting vast amounts of genetic data.AI policies and regulations, such as the AI Bill of Rights, are being proposed to ensure responsible and ethical AI systems in healthcare and genomics.Data used to train AI must be accurate, properly presented, and free from bias to avoid producing misleading or harmful results.AI-powered tools like ChatGPT can help individuals explore their genomic data while maintaining privacy and control over their genetic information.The Family Vault enables parents to maintain ownership and control of their babies' genomic data while collaborating with researchers in federal programs.Data provenance, quality, and privacy are essential when implementing AI solutions in the clinical genomics industry.A hybrid world of centralized and decentralized databases is emerging for data management in genomics, with a focus on digital hygiene and controlled access to sensitive genetic information.Creating sub-datasets and limiting access to relevant data for specific purposes can help maintain control over genetic data while contributing to research and receiving personalized medical care.Trustable, certified genetic testing is crucial as AI continues to play a larger role in healthcare and genomics.The future of genetics will involve exciting developments in the understanding and interpretation of DNA data, with AI technologies playing a significant role in augmenting human knowledge and capabilities.Episode Chapters:AI in Genetics and HealthcareThe Best of Both WorldsCentralization vs Decentralization in Digital DataExploring the Wonders of DNAChapter Summaries:(0:00:02) - AI in Genetics and Healthcare (16 Minutes)In this episode, we explore the role of artificial intelligence (AI) in genetics and the potential impact of AI policies and regulations on the field. Our guest, Daniel Uribe, is an expert in cybersecurity, data laws, NFTs, and genomics. He discusses the rise of AI chatbots like ChatGPT and BioGTP and their potential impact on healthcare and the genomics industry. AI has the potential to assist humans in interpreting large amounts of genetic data and augment human knowledge. However, the data used to train AI must be accurate, properly presented, and free from bias.(0:15:47) - The Best of Both Worlds (10 Minutes)In this portion of the conversation, we delve into the potential of AI-powered tools such as Chat GPT to enhance the understanding of our genomic data while maintaining privacy, enabling individuals to make informed decisions about their health. The Family Vault is discussed as a means to help parents maintain ownership and control of their babies' genomic data, while still collaborating with researchers in federal programs. The conversation also touches on the importance of decentralized data storage and privacy-preserving technologies for protecting sensitive genetic information from hackers and unauthorized access'(0:26:03) - Centralization vs Decentralization in Digital Data (6 Minutes)In this part of the discussion, we examine the future of data management in a hybrid world of centralized and decentralized databases, focusing on the importance of digital hygiene and controlled access to sensitive genetic information. By creating sub-datasets and limiting access to only the relevant data for specific purposes, individuals can maintain control over their genetic data while still contributing to research and receiving personalized medical care. We also touch on the potential implications of genetic data on insurance pricing and the importance of trustable, certified genetic testing as AI continues to play a larger role in the field'Learn more about Genobank.io here. You can also check out this DNA Exchange article that Kira read in preparation for this interview. Stay tuned for the next new episode of DNA Today on April 14th, 2023! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years. My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially  in relation to companion diagnostic tests and pharmacogenetics in oncology. Dr. Jamie Fettig is the Founder and CEO of TruGene Diagnostics, which is eliminating variants of unknown significance - especially  in relation to companion diagnostic tests and pharmacogenetics in oncology. He graduated from Palmer University. Dr. Fettig previously worked in private practice and then transitioned into manufacturing and selling medical equipment. He also worked as a coach and trainer to fellow doctors. On This Episode We Discuss:Defining variants of unknown significance (VUS), pharmacogenetics and companion diagnosticsWhat TruGene Diagnostics doesThe GiggaAssayHow knowing if a breast cancer is HER2+ can help inform medications that people should be prescribedVUS in HER2 Tyrosine Kinase RegionWhat people should do if they get HER2+ cancer or their doctor wants to do a biopsy thinking it might be HER2+How cancer survival rates are impacted by utilizing precision medicine approaches with drugsHow TruGene Diagnostics’ test differs from other PGx tests or Precision MedsHow pharmacogenomics can increase the efficacy of clinical trialsCheck out Dr. Fettig’s papers:Heligenics: fulfilling the promise of the functional genome to enable precision medicine (March, 2023)Data Supporting a saturation mutagenesis assay for Tat-driven transcription with the GigaAssay (September 2022)GigaAssay – a high-throughput assay system for molecular functions and cell processes (July 2021)Check out DNA Today Episode 134 that Kira mentioned during this episode; it’s with guest Dr. Kat Arney about cancer evolution. You can also stream other episodes about pharmacogenomics including Episode #108 with Becky Winslow, Episode #174 with Gregory Kellog, and last week’s Episode #229 with Avni Santani! Stay tuned for the next new episode of DNA Today on April 7th, 2023, where we’ll be discussing ChatGPT and AI In Genetics with Daniel Uribe of GenoBank! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)

We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey. By filling out the survey not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more. This week we’re chatting about an emerging area of genetics, pharmacogenomics! Pharmacogenomics (PGx), one of the core elements of personalized medicine, is a field of research that studies how a person’s genes affect how they respond to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. Joining us for this conversation is Avni Santani PhD, FACMG, Chief Medical Officer of Veritas Genetics, a LetsGetChecked company, which delivers tailored at-home healthcare solutions to 300+ organizations. Dr. Santani holds a Master’s degree in Medical Molecular Genetics from the University of Aberdeen and a PhD in Genetics from Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics from The Children’s Hospital of Philadelphia (CHOP).On This Episode We Discuss:Pharmacogenomics and other similar termsThe state of genetic testing today and how it has changed in the last ten yearsWhy it is helpful to have pharmacogenomic testing information when figuring out the best drugs to prescribeSteps of drug metabolism that gene variants can affectHow gene variants can impact the drug response (drug reception, uptake, and breakdown)If testing can provide information on the dosage of drugs to prescribe and how this varies between peopleTypes of conditions/diseases where genetic testing results can be applied (behavioral health, cardiovascular health, and pain management) The role of testing in determining personal risk levels of becoming addicted to pain medicationsGenes that LetsGetChecked’s myPGx test analyzesThe frequency at which gene variants found through this testing help narrow down which drug or dose to prescribeIf you want to learn more about pharmacogenomics, head over to the LetsGetChecked website. Be sure to follow our guest, Avni Santani, on Twitter; LetsGetChecked on Twitter, Facebook, LinkedIn, Instagram, YouTube; and VeritasGenetics on Twitter, Facebook, and Instagram.Stay tuned for the next new episode of DNA Today on March 31st, 2023, where we’ll be diving deeper into pharmacogenomics (PGx) with James Fettig who will provide an overview of PGx for cancer! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)

Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Episodes 157 & 191 where she has shared her insight on abortion bans including Texas SB 8 and the overturn of Roe v. Wade. “I understand the reasons for moving our language away from terms like ‘lethal’ or ‘incompatible with life’, but we are also now faced with multiple states where only a lethal anomaly or condition is considered grounds for a legal abortion (insurance coverage for the abortion may hinge on this as well).  And in fact, the language is so strict and the consequences so concerning that many institutions are basically turning down virtually all exceptions.  It's a giant mess.  So, not saying that it isn't important to tell the truth -- of course! But that term ‘lethality’ may need to remain in the conversation even when survival isn't out of the question.”Thanks Laura for writing in and adding to our conversation and considerations with the complexities surrounding reproduction. Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution.On This Episode We Discuss: Symptoms of T13/T18Signs on ultrasound that a pregnancy may have T13/T18Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.) Moral distress and how to process this with patientsWhy we should we shift our conversations from lethal to life-limitingThe term “quality of life”How the health and survival of people with T13/18 has changed over the yearsMost common causes of death for babies with T13/18Interventions that can alter a baby’s survivalPostnatal care conferences and other resourcesThe chance to have another pregnancy with T13/18 Stay tuned for the next new episode of DNA Today on March 24th, 2023, where we’ll be discussing pharmacogenomics with Dr. Avni Santani! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)

In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne.Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy!Livija Medne is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP.On This Episode We Discuss:Limb-girdle muscular dystrophy (LGMD)Which muscles are typically are affected first Symptoms that individuals with LGMD experience and when symptoms usually startThe prevalence of LGMD compared to Duchenne Muscular DystrophyHow people are diagnosed with LGMDWhy genetic testing is important to determine specific subtypes of LGMDGene therapy programs for the most common subtypesThe goal of the gene therapyWhen FDA-approval for LGMD gene therapy can be expected How patients can gain access to the gene therapy program and how health care providers can refer patientsBusting myths about LGMD If you’d like to take a deeper dive after listening to today’s episode, follow these links to learn more about limb girdle muscular dystrophy, gene therapy, and genetic testing for LGMD. You can also visit raregenomes.org and limbgirdle.com to learn more! And be sure to follow Dr. Louise Rodino-Klapac on Twitter!You can also check out this installment of the PhenoTips Speaker Series to hear Kira interview Livija Medne about genetic counselors in leadership positions. Stay tuned for the next new episode of DNA Today on March 10th, 2023! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy.In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center.Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases.On This Episode We Discuss:Symptoms that would warrant immediate genetic testing after birthStarting with whole genome sequencing (WGS) versus exomeOther tests that are useful for babies in the NICU beyond the genomeHow laboratories are maximizing the genome data for babies in a medical crisisSamples used for urWGS (ultra rapid WGS) and newborn screeningTrio testing with parents to rule out variants of being causative of symptomsurWGS minimizing healthcare costsWhy timing is so important for babies in the NICUHow results from urWGS can influence treatment plansHow projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four Sigmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)I’ve enjoyed recording a few episodes about epigenetics, one of the interviews where I learned the most was with the Diagnostic Labs at the Greenwood Genetic Center. They taught me about EpiSign which is a novel clinically validated test that analyzes methylation. I just learned that since this episode in 2021, verison 4 of EpiSign has been released which has expanded to include over 70 conditions. If you are attending ACMG this month stop by booth 607 to chat with Greenwood Genetics. In the meantime brush up on your epigenetics by listening to Episode #145 of DNA Today and visit GreenwoodGeneticCenter. (Sponsored)Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19.2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77.3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013.

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs.Jennifer Hoskovec, MS, CGC,  joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On This Episode We Discuss:AntigensWhich antigens are screened for in UNITYAlloimmunization and who is at riskWhy learning fetal antigens is useful during a pregnancyPrevalence of and risks associated with HDFNHemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen’s NIPT for fetal antigenThe minimum gestational week blood for this test can be collectedHow providers can order both the UNITY for recessive conditions and fetal antigenThe average turnaround time for these testsLearn more about UNITY Screen’s novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links.To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter.  Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)Which drug do you prescribe for your HER2+ cancer patients?  For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics)  informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present.  Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored) 

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor’s in molecular biology and minors in physics, computer science, and applied mathematics.Jennifer Hoskovec, MS, CGC,  joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On this episode we discuss:Noninvasive prenatal testing (NIPT)What is UNITY Screen and why the name UNITY?Recessive conditions included in UNITY ScreenInformation included in a UNITY NIPT reportTest specificity and sensitivity differences between ethnicitiesHow typical carrier screening flows work differently with UNITYWhy it is helpful to have information regarding the chance a pregnancy is affected by a recessive conditionBillionToOne’s plans to include more recessive conditions in UNITY ScreenTo stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Which drug do you prescribe for your HER2+ cancer patients?  For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics)  informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present.  Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored) 

Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group.PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems.In this panel discussion, Kira Dineen, Dr. Orion Buske, and Charles Keenan address:How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflowsThe role of interoperable data in improving diagnostic outcomesThe application of structured pedigree and phenotypic data in diagnosisRecent rare disease projects across the US, UK, and CanadaThe PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes.  Stay tuned for the next new episode of DNA Today on February 17th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior. Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions.Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University.On This Episode We Discuss:Differences in metabolism in individuals with Wilson’s disease (WD)How an accumulation of copper affects the body and body systems that are most affectedHow and when WD is diagnosedSigns that someone may have WDPathogenic variants (mutations) that have been identified in the ATP7B geneThe number of people affected by WDCurrent/standard treatment recommendations for people with WD and how Cuvrior differs from these treatmentsWhen Cuvrior, now FDA-approved, is officially launching in the USWhen it is appropriate for people with WD to start taking CuvriorLong-term studies and documented benefits of starting the medication earlier in lifeTo learn more about Wilson’s disease and find patient information, visit Orphalan's wesbite.You can also learn more about Cuprior (the name of Cuvrior in Europe with EMA approval) here.Stay tuned for the next new episode of DNA Today on February 10th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode!Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa.Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children’s Hospital.On This Episode We Discuss:Genetic counseling in South AfricaFactors that limit expansion of the genetic counseling field in South AfricaHow we can raise awareness in South African healthcare for genetic counselors and their services so that there is an increased amount of referralsPaying for genetic counseling consults in South AfricaRelationships with patient advocacy organizationsGenetic counseling degree programs in South Africa and how to applySam’s experience as a genetic counseling student (which she shares on her Instagram!)Job requirements of being a genetic counselor in South AfricaAvailability of genetic counseling positions and paid internshipsThe process to order genetic testing in South Africa Public sector versus private sector How they envision the field changing in the next five yearsTo learn more about genetic counseling in South Africa, check out this blog post from My Gene Counsel which features genetic counselors from South Africa as Trailblazing genetic counselors! You can also follow Sam’s Instagram account @samthegc, to learn more about the day-to-day life of a genetic counseling student in South Africa! Kira also mentioned a couple other episodes during the recording…#117 Dr. Janina Jeff (In Those Genes Podcast) on African Genomes#216 African American Ancestry with Nicka SmithShoutout to our Social Media Intern, Kajal Patel, for introducing us to Samantha Bayley and making this episode happen! Stay tuned for the next new episode of DNA Today on February 3rd, 2023 where we are kicking off our rare disease awareness month celebrations by discussing Wilson’s disease with Naseem Amin of Orphalan! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. We are looking forward to celebrating rare disease awareness month this February on DNA Today. Our first episode will be about Wilson’s disease. The CEO of Orphalan joins the show to provide a major update on treatment for those with the condition. A new FDA approved drug!Mark your calendar for February 3rd, that’s when this episode about Wilson’s disease will drop, it will be Episode #222. Get a head start on learning at orphalan.com. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of  biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts.Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more!Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications. Their team is comprised of talented individuals from biotechnology, synthetic biology, engineering, chemistry, and artificial intelligence. Under Maxwerk Healthcare, they supply medical devices and consumables for hospitals in Mexico, Central America, and the CaribbeanOn This Episode We Discuss:Microfluidics overviewThe evolution of microfluidic technology over the last 4 decadesApplications of microfluidics within healthcareHow microfluidic based testing can perform single cell studiesDroplet-based microfluidicsThe cost difference between microfluidic based tests and standard testsHow microfluidics offers a unique advantage to patients who live in more remote areas of the worldApplications outside of the healthcare space (space medicine, security at airports, stadiums, etc.)Upcoming projects at MaxwerkYou can stay up to date with Maxwerk’s projects and Franz by following him on Twitter. Stay tuned for the next new episode of DNA Today on January 27th, 2023! New episodes are released every Friday. In the meantime, you can binge over 219 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me. In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch! Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors’ Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT. On This Episode We Answer:When should people consider genetic counseling?Do you need a referral?Does insurance pay for genetic testing and counseling?Is genetic testing done before or after the visit? How many visits are typically involved for genetic counseling?What reproductive options do couples have?How do genetic counselors help people with genetic conditions?Why are the advantages of having genetic testing? What have you learned from interviews with patients and rare disease advocates?Do you recommend joining rare disease advocacy groups? Which ones?Why study rare diseases?What is CRISPR? How could this help with treatment of even cures of genetic conditions? What are nano-rare diseases?For more information check out the National Organization of Rare Disorders’s Rare Disease Fact sheet.  Stay tuned for the next new episode of DNA Today on January 20th! New episodes are released every Fridays. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy. Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations.Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe CollegeKarina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passion for genetics education and advocacy. Currently, she is a student in the NH-ME LEND program working on furthering her experience with the disability community, and hopes to attend a Master’s in Genetic Counseling program in the near future.In this episode we discuss:The mission of the LEND ProgramHow LEND helps people and families affected by neurodevelopmental disabilities Concepts and skills taught in LENDWho is eligible to participate in LENDThe LEND student experienceHow LEND prepares students for careers in genetic counselingUniversities that offer LEND and how students can get involvedTo learn more about LEND and how to get involved, check out their website.   Stay tuned for the next new episode of DNA Today on January 13th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored) I don’t know about you, but I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David’s podcast, Papa PhD. I am a little biased, he had me as a guest back in May. The episode is titled, “Applying to Grad School in 2022 with Kira Dineen”. If you also speak French, he also does some episodes in French! I’ve enjoyed episodes about science communication, leadership, networking, science policy, public speaking skills, mentorship and more. Search “Papa PhD” in your podcast app to stream! 

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can’t help himself.  So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation.  His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss:Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey Elli’s role as a genetic counselor in diagnosing SYNGAPHow SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)Sleep issues associated with SYNGAP and other symptomsThe prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the conditionLabs and organizations that have been helpful in supporting the SYNGAP communityConnecting with fellow parents/caregivers who have kids with SYNGAPThe status of SYNGAP1 research and potential treatmentsMike’s podcast, SYNGAP10You can learn more about Mike’s family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”. 

Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE, a web series focused on genealogy and family history with a special focus on people of color. Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She’s appeared on TODAY Show, CNN, MSNBC, on the series Who Do You Think You Are and has been interviewed by Oakland Tribune, The Undefeated, National Geographic, and TIME. She is a citizen of the Cherokee Nation of Oklahoma, a member of two lineage societies (Sons and Daughters of the Middle Passage (SDUSMP), National Society of Daughters of the American Revolution (DAR)), and a past board member of the California Genealogical Society (CGS) and the African American Genealogical Society of Northern California (AAGSNC). Nicka served as the chair of the Outreach and Education Committee for AAGSNC, and is the former project manager for the Alameda County, CA Youth Ancestral Project where more than 325 youth were taught the value of family history. On This Episode We Discuss:Why people are drawn towards ancestryHow ancestry can be valuable informationWhy the ancestry percent changes over time in direct-to-consumer DNA testingCompanies with diverse databasesHow genetic testing companies can be more inclusive with their databasesWhy it’s helpful to look at the Y chromosome and mitochondrial DNA when exploring maternal and paternal specific lineageHow haplogroups can help with ancestry researchTracking down formerly enslaved ancestors and which records to useNicka’s personal experience tracking her family historyKira mentioned a few videos and blog posts from Nicka Smith includingTrask 250 Multimedia Series, How to Trace Your Ancestors as Slaves, and 5 Lies About African American Genealogy and Family History Research. Learn more about Nicka and her important work on her website, and follow her on Twitter, Facebook, Instagram, and YouTube.Stay tuned for the next new episode of DNA Today on December 30th, 2022! This will be our final episode of 2022, and we’ll be joined by Mike Graglia and Elli Brimble to discuss SynGAP10. New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)

Our guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to clinical genetic testing. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing genetic testing and healthcare into a much needed era of modernization.On This Episode We Discuss:The difference between whole exome and whole genome sequencing Why WES vs panels? Examples of conditions that we can learn risk level for through WES The future of insurance coverage of WES for preventative health purposes Importance of pre-test education of tests How the cost of WES has changed over time Founding Panacea Depth of coverage of the sequencing through Panacea Post-test genetic counseling with Panacea To learn more about Panacea and WES, follow them on Instagram or head to their website.Stay tuned for the next new episode of DNA Today on December 23rd, 2022 where we’ll be discussing African American Ancestry with Nicka Sewell-Smith! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Pharmacogenomics is a field of research that studies how a person's genes affect their response to medications. LetsGetChecked’s myPGx, is a new offering for business clients. This robust testing panel identifies potential drug-gene interactions for over 100 drugs across behavioral health, cardiovascular health, and pain management. This accounts for over 800 million annual prescriptions in the US alone. To learn more visit letsgetchecked.com/mypgx. LetsGetChecked also provides access to testing, virtual consultations, and medication delivery for a range of health and wellness conditions from the comfort of home. Visit LetsGetChecked.com to shop their health tests and use code “DNATODAY” for 20% off! (Sponsored) 

Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED)As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. Their launch is starting with residents of Florida, so if you live in other states or countries sign up on their website to be notified when testing is available in your area. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. (SPONSORED)Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Dr. Green’s career has involved directing a major genomics research program and, most recently, leading NHGRI’s efforts in funding genomics research. In this episode, we are discussing the top genetic and genomic news stories of 2022 including what you listeners submitted! Shoutout to Daniel, Nydia, M.SPDH, Anna, Ryan and Nykole. Throughout his career, he has authored and co-authored over 385 scientific publications. He was featured on episode #182 of DNA Today when we chatted about the Human Genome Project  and the recent completion of the human genome sequence -- from telomere to telomere. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005).On This Episode We Discuss:Completion of the human genome sequence (telomere to telomere)The Genome-sequencing arms race (Lab mergers and changers)Top genomic medicine papers of 2022Changing landscape of the genomic diagnostic ecosystemGene therapy advances including CRISPR Genome Sequencing of Acutely Ill Newborns through beginNGS2022 Nobel Prize Physiology or Medicine to Svante Pääbo for sequencing Neanderthal genome What to look out for in 2023Here is a list of links to the papers and announcements we mentioned in this episode!Genomic Medicine Year in Review: 2022 (Paper)Genome.gov accomplishments in genomic medicine (includes 2019-2022 notable accomplishments)Dr. Green’s tribute to Svante Paabo when he won the Nobel this year, with links to his talks at NIH.Our breakdown of Ultima’s announcement and the sequencing costs developments this year.The epic T2T news, with background, links to the papers and some explainers.Based upon the success of gene therapy trials, there are new educational materials for the sickle cell community on how to navigate this new treatment option.DNA Today Episodes Referenced: Episode #169 Cytogenomics with Phase Genomics (Optimal genome Mapping) Episode #172 PhenoTips: Advances in Rare Disease Diagnosis (with Dr. Steven Kingsmore)Episode #182 Eric Green on the Complete Human Genome ProjectEpisode #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere ConsortiumEpisode #187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh (Optimal Genome Mapping)Episode #197 CRISPR Quality Control with Kiana AranEpisode #198 CRISPR Ethics with Sam Sternberg Episode #211 Jorge Contreras on The Genome DefenseBe sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements!Stay tuned for the next new episode of DNA Today on December 16th, 2022, where we’ll be discussing Preventative health through whole exome sequencing with Dahlia Attia-King of Panacea! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn’t have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss:How hormones are imbalanced in people with CAHThe two main types of CAH and their symptomsGetting diagnosed with CAHCAH inheritance and carrier screeningTreatments that people with CAH can utilize and their side effectsCAH and the LGBTQIA+ communityCAH and gender identityGene therapy for CAHAdvice and insight for parents of a child who has been newly diagnosed with CAH or couples who are carriers of the conditionIf you’d like to check out the papers that we referenced in the episode, you can read those here:Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia and Gender Identity in Patients with Congenital Adrenal HyperplasiaStay tuned for the next new episode of DNA Today on December 9th, 2022 where we’ll be joined by patient advocate Mike Graglia and genetic counselor Elli Brimble to discuss SynGAP1! New episodes are released every Friday. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. SPONSORED: Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now.

We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference, which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn’t get a chance to say hi to you, or you couldn’t attend the conference, email me at info@DNAtoday.com. I’d love to connect and also add you to our email newsletter so you can stay updated on DNA Today. Oh and don’t forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter, Instagram, LinkedIn, and Facebook all @DNATodayPodcast. Enjoy our thoughts on the conference and what we learned! I am honored to feature four outstanding genetic counselors (wish I had time to include even more). Check out their bios below including what we chatted about during their segment of the show. Monisha Sebastin, MS, CGC (She/Her) is a genetic counselor who specializes in pediatric genetics, cardiovascular genetics, and immuno-genetic conditions in New York City. She is this year’s recipient of the Heart of Genetic Counseling Award that recognizes one genetic counselor every year who goes above and beyond for their patients. Monisha was a presenter at “We’re Not In Kansas Anymore, Toto! International Genetic Counselors’ Experiences in the US” which we chat about in this episode. Monisha continues to serve as co-chair of the USIGC sub-committee of the International Special Interest Group (SIG) and as co-chair of the Pediatric and Clinical SIG at the National Society of Genetic Counselors (NSGC). Monisha is a member of the NYCKidSeq research team and is the lead genetic counselor on her team. She volunteered as the chair of the education committee at the New York State Genetics Task Force (NYSGTF) in 2020 and 2021. You can follow Monisha on Twitter and connect with her on LinkedIn. Gabrielle Shermanski, MS, LCGC (She/Her) is a cancer genetic counselor and research coordinator at Geisinger in Pennsylvania. She earned her Master of Science in Human Genetics at Sarah Lawrence College. Gabrielle earned her Bachelor of Science in Psychology at Penn State University. We discussed the session she attended which explored the new NCCN guidelines. The updated guidelines recommend genetic testing for anyone with colorectal cancer and genetic testing for people assigned female at birth diagnosed with breast cancer 50 years or younger. You can connect with Gabby on LinkedIn. Gabrielle Ernst, MS, CGC (She/Her) is a cancer genetic counselor. She is one of the creators of Amplify Sprouted, which provides education on gender inclusive genetic counseling. Our host, Kira Dineen, was a participant in the workshop that accompanied the Amplify Sprouted content. She was one of the presenters during “Platform Presentations - Gender, Sexuality, and Identity Related to Genetic Counseling Practice” at the conference, which we chat about in this podcast episode. Gabrielle has four publications in the oncology field. She earned her Bachelor of Science in Genetics from the Ohio State University and Master of Science from the University of Michigan. You can follow Gabrielle on Twitter and connect with her on LinkedIn. Ashlyn Enokian, MS, CGC (She/Her) is a prenatal genetic counselor in Las Vegas, Nevada at a clinic with a high patient volume. She is a member of the Minority Genetic Professional Network (MPGN) and provides mentorship for genetic counseling students. Ashlyn is also the Business Liaison for GC Genius Guides. The name might be familiar with their popular Study Guide utilized by over 400 genetic counselors studying for boards and more. During the conference, GC Genius Guides launched flashcards featuring the Top 100 Genetic Conditions and sold out within 24 hours. Keep that site bookmarked and use code “DNATODAY” for a discount when they restock. Using the code helps support the podcast, so please do! And of course, she is on our DNA Today team as our graphic designer and the one to thank for our snazzy logo. You can follow Ashlyn on Twitter and connect with her on LinkedIn. Resources:NSGC International Special Interest Group’s Twitter and Website. Their email is nsgcinternationalsig@gmail.comDNA Today Episode #109 Shenela Lakhani on Genetic Counseling in QatarUpdated National Comprehensive Cancer Network (NCCN) Guidelines Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling (Password: Amplify21)Amplify Sprouted for Gender Inclusive Prenatal/Preconception Genetic Counseling (Password: sprouted22)DNA Today Episode #190 PhenoTips: Gender Affirming Care in Genetic Counseling (with Holden Bender-Bernstein)GC Genius Guides’s Etsy page (use code “DNATODAY” for discounts, which supports the show)You can check out our previous NSGC recap episodes…Episode #111 NSGC 2019Episode #135 NSGC 2020Episode #157 NSGC 2021This episode was released early to coincide with the end of the NSGC conference. Episodes are usually released on Friday, so stay tuned for our next episode on December 2nd. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. When it comes to the quality of genetic testing, the most important aspect to consider is patient care. At Blueprint Genetics, patients come first. In order for a test to be considered high quality, it should provide valuable information for the patient. That’s why Blueprint Genetics is focused on prioritizing quality and delivering answers to patients and their families. Stay tuned for our interview with Blueprint Genetics where we will define what quality genetic testing means. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)

Our guest in this episode is Jorge Contreras, author of The Genome Defense. In this riveting, behind-the-scenes courtroom drama, a brilliant legal team battles corporate greed and government overreach for the fundamental right to control our genes.We’re giving away 5 copies of The Genome Defense, so be sure to check out our social media accounts for the giveaway details. If you don’t win, you can get a copy here. When you buy a copy of the book, half of the proceeds are donated to FORCE, an organization that strives to improve the lives of individuals and families facing hereditary cancer. You can learn more about the book on Contreras’ website, genomedefense.org. Jorge Contreras (he/him) is the James T. Jensen Endowed Professor for Transactional Law and Director of the Program on Intellectual Property and Technology Law at the University of Utah S.J. Quinney College of Law, with a secondary appointment in the Department of Human Genetics. His research focuses on intellectual property, technical standards and science policy, and he is one of the co-founders of the Open COVID Pledge, a framework for contributing intellectual property to the COVID-19 response. He is the editor or author of twelve books and more than 150 scholarly articles and book chapters. During his career he has served on the NIH Council of Councils and the National Advisory Council for Human Genome Research, and as Co-Chair of the National Conference of Lawyers and Scientists. His most recent book, The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA (Algonquin, 2021) describes the litigation that ended gene patenting in America. He is a graduate of Harvard Law School (JD) and Rice University (BSEE, BA). Learn more about Jorge here.On This Episode We Discuss:Why the ACLU and other groups felt so strongly that gene patents should be bannedFactors that lead to the ACLU choosing Myriad and specifically the BRCA related gene patents for the lawsuitThe role that public perception played in the AMP vs. Myriad caseThe predicted impact of banning gene patents on the economy and public healthThe main points that were argued in the AMP vs. Myriad casecDNA and gDNAHow the ban of gene patents has impacted the biotech industry Legislation and current cases that we should be aware of that affect the field of geneticsWe also asked listener questions on this episode, so tune in to see if we answered yours!You can follow Jorge onTwitter and LinkedIn to stay up to date on his latest work! Stay tuned for the next new episode of DNA Today next week where our host, Kira Dineen, will be recapping the NSGC Annual Meeting! New episodes are released on Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is created, hosted, and produced by myself, Kira Dineen. Our team includes Communications Lead, Corrine Merlino. Video Lead, Amanda Andreoli. Outreach Intern, Sanya Tinaikar. Social Media Intern, Kajal Patel. And Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]

After two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there. As some of you may know our host, Kira Dineen, is a prenatal genetic counselor! Today’s episode topic is something that she talks about every day, family history in reproductive medicine! Joining us for this discussion is Dr. Tristan Hardy who is a dual-trained obstetrician/gynecologist and genetic pathologist with a particular focus on reproductive genetics.Tristan Hardy is a Consultant Gynecologist at Repromed and the Medical Director of Genetics at The Monash IVF Group, both in Australia! Dr Hardy completed his medical degree at the University of New South Wales and undertook specialty training in Obstetrics and Gynecology at the Royal Hospital for Women, Sydney and the Women’s and Children’s Hospital, Adelaide. Alongside specialist training, he completed a Masters in Reproductive Medicine and a PhD focussing on new methods of Preimplantation Genetic Testing. Following completion of training in Obstetrics and Gynecology, he undertook a fellowship in genetic pathology at SA Pathology. He is Australia’s only dual-qualified Obstetrician/Gynecologist and Genetic Pathologist. Dr. Hardy’s special interest is in helping couples who are planning genetic testing of their embryos, due to genetic conditions identified in previous pregnancies or on carrier screening. He runs a joint clinic with Dr. Jan Liebelt (Clinical Geneticist) to provide comprehensive care of couples undergoing IVF with Preimplantation Genetic Testing. Dr Hardy is experienced in all aspects of fertility management and performs clinical procedures including oocyte retrievals, embryo transfers and IUIs.On This Episode We Discuss:When family history is relevant to reproductive healthGeneral trends for people to keep in mind (early onset conditions, birth defects/differences, stillbirths/infant deaths, genetic disorders)What family health history information patients should try to gather prior to meeting with a reproductive healthcare specialistWhat people pursuing IVF/IUI using a donor egg/sperm should pay attention to in the donor profileWhy having a family history of early menopause (early 40s) can increase the risk of having fragile X carriers in the familyWhat type of genetic testing people that have had multiple miscarriages or infertility or their personal or family medical historyWhy it’s important for every patient to be offered carrier screening regardless of ancestry and family health historyHow digital pedigrees are aiding patient care Digital pedigree builder (like Trakgene) and its use in the IVF/IUI settingDon’t forget to enter our giveaway to win a lifetime TrakGene license for their pedigree software (worth $1,000/year)! TrakGene is also giving away 10 copies of “The Patient Will See You Now” By Eric Topol. Enter on Instagram, Twitter, LinkedIn, and Facebook. All of our listeners can receive a free, 12-month TrakGene software trial by using the code “DNAToday”.Here is an article about “Mackenzie’s Mission”, a research project in which 10,000 couples undergo screening, that Dr. Hardy mentioned during the interview. To learn more about TrakGene, the pedigree drawing tool and clinical genetics database software company that we discussed in this episode, you can head to their website or follow them on Twitter, Facebook, LinkedIn, and YouTube!Stay tuned for the next new episode of DNA Today on November 18th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you a genetic counselor or genetic counseling student? Want to enter to win a $100 Amazon gift card? Participate in a quick survey this November to capture your insight on clinical trials. The goal of this study is to assess if, how, and when genetic counselors discuss clinical trials within their practice and document their process. Also the researchers will look to define a framework for current genetic counselors to incorporate clinical trials in their own practice. It took me about 15 minutes to fill it out. Link to the survey is in the show notes and in the blog post for this episode at DNAtoday.com. The principal investigator, Derek Ansel’s email is dansel2101@baypath.edu, feel free to reach out with questions. 

When our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. We’re joined by two experts from Blueprint Genetics, Dr. Kirsty Wells and Rachel Goldberg, MS, CGC for this episode!Dr. Wells is a Senior Geneticist and Team Lead at Blueprint Genetics where she specializes in interpretation of ophthalmology panels and whole exome sequencing data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, she completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Rachel Goldberg is a Genetics Services Consultant at Blueprint Genetics. She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. She attended graduate school at Long Island University. On This Episode We Discuss:Defining a quality genetic testTop-notch sequencersDepth of sequencingAI programs, tools, and techniques for analyzing quality data Acceptable turnaround times for gene panels, exomes, and genomesHow labs can achieve a patient-first mindsetThings that healthcare providers can do to provide a quality experienceHow often patients that do not receive results of a causative pathogenic variant for their symptoms should check back with labs to see if any VUSs were reclassifiedHead over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn.  Stay tuned for the next new episode of DNA Today on November 11th where we explore reproductive medicine with Dr. Tristan Hardy! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]

In 2012, the 100,000 Genomes Project was announced, the same year we started this podcast!Back in 2015 we did an episode about the 100,000 Genomes Project so we’re excited to revisit this massive project today with Dr. Julian Barwell, who is a clinical geneticist and has countless titles but today’s most relevant one is the operational clinical lead of the 100,000 Genome project.After finishing his Clinical Genetics training (2001-2007) at Guy's, St George's and the Royal Marsden from the University of London; Dr. Barwell started as a consultant in Clinical Genetics in Leicester. He runs specialist clinics in inherited cancer susceptibility; non-alcoholic fatty liver disease and susceptibility to hepatitis, cirrhosis and hepatocellular carcinoma; Von Hipped Linda syndrome and Neurofibromatosis type 2. He has over 60 publications and helped coin the internationally known phrase, the 'Angelina Jolie effect' on referrals to inherited breast cancer clinics. He also developed the first YouTube channel for Clinical Genetics that has been viewed in over 100 countries and developed the Supporting Families with Cancer projects in association with the Genetics Education Centre (GENIE) at the University of Leicester. He is the clinical lead for the delivery of Paediatrics, Obstetrics & Gynaecology, Non-Malignant Haematology and Clinical Genetics national portfolio research studies (CRN) in the East Midlands. He is the rare disease lead for the 100,000 Genome Project in Leicester and the public and patient involvement clinical lead for the East of England Genomics Medicine Centre with the aim of reducing inequality of access to Genomic Medicine. He is the designer of the genome project eligibility criteria wheels for Health Education England and is on the Genomics England committee for patient involvement and access to genomics for black and minority ethnic groups. He is a national clinical advisor to the National Hereditary Breast Cancer Helpline and helped develop the award winning Prostaid male health App and is clinical lead of the United Against Prostate Cancer project, establishing tumour BRCA testing. He is joint clinical lead of the Paediatric and Genetics Clinical Research Facility at the Leicester Royal infirmary and is establishing a fragile X syndrome research group and patient self-navigation App project with the Genomic Medicine Service Alliance. He is a senior author of the newly commissioned book, Clinical Genetics and Genomics at a Glance as well as a children's book on DNA. On This Episode We Discuss:Ten years of the 100,000 Genomes Project (2012-2022)Advantages of using digital pedigrees tools such as the one developed by TrakGeneWhy it’s important to have genomes from various ancestries representedImportance of utilizing digital pedigrees How the 100,000 Genome Project is going to change the role of genetic counselorsReclassifying variants as data is continuously being analyzedIf you want to learn more about what it’s like to be a clinical geneticist, check out this article which follows Dr. Barwell through a day in the life, and you can find a list of Genomics England's publications here.To learn more about TrakGene, the pedigree drawing tool and clinical genetics database software company that we mentioned in this episode, you can head to their website or follow them on Twitter, Facebook, LinkedIn, and YouTube. You can also follow Dr. Barwell on Twitter and Facebook!Don’t forget to enter our upcoming giveaway via social media next week for a lifetime subscription to TrakGene and a copy of “The Patient Will See You Now” by Dr. Eric Topol. You can also use code “DNATODAY” for a year free trial for TrakGene. Stay tuned for the next new episode of DNA Today on next Friday, November 4th, 2022 where we’ll be defining quality genetic tests with Blueprint Genetics! In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

As some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where I picked his brain about nano-rare diseases. He is a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. So this week we are sharing an episode of the podcast where Dr. Crooke interviews Dr. Sessions Cole about the diagnosed odyssey for people with rare diseases. Dr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network (UDN). Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UDN is working to elevate the awareness of the diagnostic odyssey these patients undertake and diagnose up to one third of patients who are referred to the UDN. Dr. Cole is part of n-Lorem’s access to treat committee (ATTC), the committee that evaluates and recommends patients to n-Lorem.  In this episode, Dr. Cole discusses the robust processes involved in the evaluation of each application to n-Lorem and the hope and value that n-Lorem is providing to nano-rare patients today.To hear other episodes of the n-Lorem “Patient Empowerment Program'', subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org.  Stay tuned for the next new episode of DNA Today on October 28th! New episodes are released every Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. 

Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today!Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics. Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. On This Episode We Discuss:Differences between gene panels, exome, and genome sequencing Adapting workflows from exome to genome utilizing existing frameworksAdvantages of different types of testingLimiting the floodgates of variants that inevitably come with whole genome sequencingHelpful information for providers to include with specimens to guide the laboratory when the data are analyzedThe role of phenotypic data specifically in classification of sequence variantsDeep intronic variantsKira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). If you found the topics that we discussed on this episode interesting, check out this recorded presentation from Dr. Bean entitled, “Why Bigger Isn’t Only VOUSier.”Learn more about phenotypically-driven clinical results at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on October 21st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. When Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), her mother, Amber was told to love and care for Willow but that there was no cure for this terrible fatal condition. Amber set out to find and fund the cure for MSD. That’s when she started the United Multiple Sulfatase Deficiency Foundation. She shares this personal experience on Episode 205 of DNA Today including how this affected her family and the relationships she has built with other families in the MSD community. (SPONSORED)TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)

Y’all YOU made it happen. DNA Today won the Best 2022 Science & Medicine Podcast Award! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and Megha Matur for all your hard work. And it all comes back to you listeners; it’s the People’s Choice Podcast Award, so thanks for choosing us. It really means the world to us. This week we were joined by Amber Olsen and Faith McGown of the United MSD Foundationto discuss Multiple Sulfatase Deficiency (MSD), an ultra rare, fatal genetic condition, and what it’s like to run a rare disease nonprofit! Amber Olsen is the mother of Willow, a child diagnosed with MSD. Following WIllow’s diagnosis, Amber formed the United MSD Foundation, traveling the world to find a treatment to help the children with this devastating disease. She will not stop until enough money is raised to bring research into the clinic for the children with MSD. Amber and her husband Tom have 3 wonderful daughters, Kylee 15, Jenna 11, and Willow 4 years old.Faith McGowan is a campaign consultant at the United MSD Foundation. For more than 30 years, Faith has successfully supported the mission and financial goals of nonprofit and corporate organizations. Her work has included development, sales and marketing, public and media relations, event development and management, and securing individual, foundation and corporate support for nonprofit organizations. Faith has a BA in Journalism from the University of Minnesota and began her professional career in journalism. She is an avid runner and certified as a yoga instructor and health coach. Faith and her daughter live in Memphis, Tennessee.On This Episode We Discuss:Willow’s diagnostic odysseyEffects of MSD on the bodyHow lysosomal conditions like MSD cause neurological symptomsMSD inheritance Rarity and types of MSDMSD diagnosis (Free Invitae testing and lack of newborn screening)Types of support that kids with MSD can receiveChallenges faced by rare disease organizationsThe United MSD FoundationMSD natural history studies and clinical trialsAdvice for parents and caregivers We’d like to share a few of the materials mentioned in this episode; the United MSD Foundation’s physician guide, and this guide for parents and caregivers that have a child that has recently been diagnosed with MSD.You can follow the United MSD Foundation on Twitter, Facebook, LinkedIn, Instagram, and YouTube.Stay tuned for the next new episode of DNA Today on October 14th, 2022 where we’ll be discussing phenotypically driven clinical results with Dr. Lora Bean of PerkinElmer Genomics! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)When it comes to the quality of genetic testing, the most important aspect to consider is patient care. At Blueprint Genetics, patients come first. In order for a test to be considered high quality, it should provide valuable information for the patient. That’s why Blueprint Genetics is focused on prioritizing quality and delivering answers to patients and their families. Stay tuned for our interview with Blueprint Genetics where we will define what quality genetic testing means. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED) Have you ever wondered why Calico cats look the way they do? Is there a human equivalent? What does our genetic future look like? This week we’re featuring an episode of the FUTR Podcast where our host, Kira Dineen, was invited as a guest to chat about mosaicism. We’ve touched on mosaicism on DNA Today in the past, but we really dive into it in this episode!FUTR.tv focuses on startups, innovation, culture and the business of emerging tech with weekly podcasts featuring Chris Brandt and Sandesh Patel talking with industry leaders and deep thinkers.On This Episode We Discuss:MosaicismThe genetics of Calico catsSex disordersX-chromosome activationCytogeneticsCRISPRThe recent overturn of Roe v. WadeKeep up with FUTRtech on Twitter, Facebook, LinkedIn, and YouTube, and listen to their entire library of episodes on a wide range of tech topics here.Stay tuned for the next new episode of DNA Today on October 7th, 2022, where we’ll be discussing Multiple Sulfatase Deficiency! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie’s son Ford’s diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord’s feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie’s son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie’s story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we’ll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.We’re joined by genetic counselor, ​​Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the power of whole genome sequencing!Sick of Zoom conferences? The Connecticut Genetic Counselors Association’s first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here!On This Episode We Discuss:DMD average age of onset, symptoms, and symptom progressionDMD prevalence and inheritanceWhy it’s important for people to be offered carrier screening before they are trying to conceiveReproductive options for people who are carriers of DMDWhat symptoms carriers of DMD are at risk forGetting the right testing for DMDCurrent treatment approaches for DMD (EMFLAZA)Ongoing clinical trialsPPMD’s guides for caregivers of newly diagnosed peoplePerkinElmer Genomics’ free testing program, DeCode Duchenne If you’re interested in learning more about Decode Duchenne, the free genetic testing, counseling, and education program offered through a joint partnership between PerkinElmer Genomics and Parent Project Muscular Dystrophy, visit their website.We’d also like to feature a paper authored by one of our guests, Dr. Madhuri Hegde, about a single NGS-based assay that is highly sensitive for ​​diagnostic testing for DMD and is also suitable for confirmatory testing for newborn screening for DMD.Keep up with our guests on social media! Follow Parent Project MD on Twitter, Facebook, and Instagram, Dr. Maduri Hegde on Twitter, and PerkinElmer Genomics on Twitter and Facebook. If you found today’s episode topic interesting and you want to learn more about DMD, we also chatted with Rich Horgan of Cure Rare Diseases whose brother has DMD in Episode 156!Stay tuned for the next new episode of DNA Today on September 16th 2022, where we’ll be joined by Effie Parks of Once Upon A Gene Podcast to discuss CTNNB1 Syndrome! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal.TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. 

It’s Sickle Cell Awareness month, so we are sharing this episode of Lifting the Veilpodcast where Beveraly Mills and Elaine Buck interview our host, Kira Dineen, about the condition!On Lifting the Veil, Beverly and Elaine cover, and uncover, the truth about African-American history. Misconceptions, lies, skewed facts, and untruths about the African-American narrative get straightened out here, once and for all.On This Episode We Discuss:Health disparities specifically in black communityBirth mortality rates of black people Funding/support for sickle cell disease research compared to other disease like cystic fibrosisHenrietta Lacks’s story and its impact on science, medicine, and her familyTreatments for sickle cell including bone marrow transplant and CRISPR clinical trials You can listen to the episode here, and check out their other episodes on New Pod City. If you’re interested, you can read the article mentioned throughout the interview, “Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity,” here!Keep up with Beverly Mills and Elaine Buck on LinkedIn, and follow the Stoutsburg Sourland African American Museum on Twitter, Beverly and Elaine are the co-founders! Stay tuned for the next new episode of DNA Today on September 16th, 2022 where we’ll be joined by Ann Martin and Madhuri Hegde to discuss Duchenne Muscular Dystrophy. New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.org/NewDeal. (SPONSORED)

This is a milestone episode for two reasons. As you may have noticed, it’s our 200th episode. Technically we had about 20 episodes prior to numbering them, but these are mini lessons and not really full episodes. These started when we were broadcasting live from WHUS 91.7 FM.The other milestone is that September 1st marks 10 years of DNA Today. We released our first episode in 2012. Back then our host and producer, Kira Dineen, was starting her senior year of high school, fast forward a decade and now she has her masters in genetics and has been practicing as a genetic counselor for 2 years! As a high schooler she dreamed of reaching people around the world, little did she think she would be producing DNA Today ten years later with two Podcast Awards, ranking in top 1% of podcasts globally with 40+ sponsors. This journey has been incredible. We have had countless guests on the podcast that have brought immense insight into the field of genetics, the life of living with a genetic condition or caring for someone who does, groundbreaking advancements in genetic technology, discussions exploring the ethics surrounding this technology, and so many more important conversations. During this episode we are looking back at the last 10 years and 200 episodes. We are featuring your voices. Voices of people that make this show possible. Listeners. Team members. Guests. And more. So you will hear these voice memos sharing people’s favorite episodes, followed by clips from the episodes. We want to thank you so much. DNA Today would not be successful without you. It’s your downloads, engagement, and support that keep this show going. We are so passionate about educating the world about genetics, it’s you that keeps us going. I am humbled by your support and honored to be in this role. Shoutout to the following listeners, guests, and DNA Today team members for submitting voices memos featured in this celebratory episode: Corinne Merlino, Sophia Saladino, Ashlyn Enokian, Katie Lee, Amanda Andreoli, Daniel DeFabio, Faith McCarthy, Laura Markham, Paloma Boeck, Taila Stanford, Sanya Tinaikar, Kajal Patel, and Mahfuz Taofeeq. Episodes mentioned include…#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival#87 Genetic Counseling Grad School Apps (Part 1)#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)#101 Genetic Counseling Match Day#110 Gattaca, 22 Years Later#111: NSGC 2019 Recap#123 Infertility Series: Dr. Kara Goldman on Fertility Testing#128 DTC Series: Adam Rutherford on How To Argue With A Racist#131 DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases#135 NSGC 2020 Recap#164 Parkinson’s Disease with the Parkinson’s Foundation#166 Beta Thalassemia with Radhika Sawh#176 Glee's Lauren Potter on Down Syndrome Awareness#191 Overturning Roe v. Wade with Laura HercherStay tuned for the next new episode of DNA Today on Friday, September 9th where we will be discussing sickle cell disease in honor of the awareness month. Our host Kira Dineen is interviewed by Beverly Mills and Elaine Buck. If you want a sneak preview the episode has been released on their podcast, Lifting the Veil. New episodes are released on Fridays. In the meantime, you can binge all 200 episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.org/NewDeal. (SPONSORED)

We have two special announcements!Next episode we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com. Deadline is August 27th.Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only going to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! In this episode we are educating you about prostate cancer as we are on the cusp of prostate cancer awareness month starting next week. Joining us for this discussion is Dr. Heather Cheng, Director of the Prostate Cancer Genetics Clinic at the Seattle Cancer Care Alliance, Assistant Professor in the Division of Medical Oncology at the University of Washington School of Medicine, and Associate Professor in the Clinical Research Division at the Fred Hutchinson Cancer Research Center. She focuses on improving the care of patients with prostate and bladder cancers. An expert in prostate cancer genetics, she is studying ways to use genetics to guide the care of prostate cancer patients and their family members who may also be at high risk for the disease.On This Episode We Discuss:The prevalence of prostate cancerSigns of hereditary prostate cancer in family historyProstate Cancer Registry of Outcomes and Germline Mutations (PROMISE)The goals of PROMISEWho is eligible to enroll in PROMISE and what is requiredThe most common genes that are identified as having a pathogenic variantCurrent treatments available for people with prostate cancerThe lifetime risk of prostate cancerTo learn more about the PROMISE study, visit the study website and check out thisarticle!You can keep up with our guest, Heather Cheng on Twitter, and LinkedIn, and stay up to date with the latest developments in prostate cancer research by following the Prostate Cancer Foundation on Twitter and ​​LinkedIn, and Instagram.Next episode of DNA Today on September 2nd, 2022, we are celebrating 200 episodes and 10 years of the show! New episodes are released on Fridays. In the meantime, you can binge all our other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

We have two special announcements! Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a 30-60 second voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com. Deadline is August 27th.Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only going to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! Our guest this week is Dr. Sam Sternberg, who is a protein-RNA biochemist and CRISPR expert. He runs a research laboratory at Columbia University, where he is an assistant professor in the Department of Biochemistry and Molecular Biophysics. Sam's lab explores the biology of CRISPR-Cas systems and transposable elements, and develops these systems for genome engineering. In addition to publishing his research in leading journals and speaking internationally, Sam remains actively involved in public outreach and ongoing discussions on the ethical issues surrounding genome editing. Together with Nobel Prize winner Jennifer Doudna, he co-authored a popular science book about the discovery, development, and applications of CRISPR technology. Titled A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution, which chronicles the development of CRISPR and explores bioethical aspects of the technology. Their book was a finalist for the Los Angeles Times Book Prize, and The New York Review of Books called it “required reading for every concerned citizen.”Sam received his B.A. in Biochemistry from Columbia University in 2007 and his Ph.D. in Chemistry from the University of California, Berkeley in 2014. He earned graduate student fellowships from the National Science Foundation and the Department of Defense, and was awarded the Scaringe Award from the RNA Society and the Harold Weintraub Graduate Student Award from the Fred Hutchinson Cancer Research Center. Sam worked as a Scientist and Group Leader at Caribou Biosciences before beginning his independent position at Columbia in 2018, and he is the recipient of the NIH Director’s New Innovator Award, and is a Sloan Fellow, Pew Biomedical Scholar, and Schaefer Research Scholar.On This Episode We Discuss:Safety, ethical, regulatory considerations for using CRISPR technology Off target effects Working directly with Nobel Prize Winner Dr. Jennifer DoudnaThe 3 major areas of CRISPR applicationsFertility research Animal studies Human genetics Enter our giveaway for your own copy of A Crack In Creation through our social media! For updates on the Sternberg lab, visit their website or follow Sam on Twitter and LinkedIn! You can also read one of his most recent papers on the profiling of CRISPR RNA-guided transposition products here. Stay tuned for the next new episode of DNA Today on August 26th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 195 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

We have two special announcements!Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com. Deadline is August 27th.Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only gong to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! Can’t thank you all enough! Special shoutout to the following listeners for sharing after they nominated us…Heather, Dan, Janelle, Steven, Doug, Lynn, Taila, Lorraine, Katherine, Barbara, Jerry, Catherine, Kim, Ashlyn, Pricilla, Jane, Rob, Hari, Vishnu, Leticia, Meli, Wright, Mahfuz, Anne, Laura, Molly, Hibat, Rachael, Carol, Hal, Romer, JoanneJoining us this week is Dr. Kiana Aran, Associate Professor of Medical Diagnostics and Therapeutics and head of the Aran Lab at Keck Graduate Institute (KGI) where she works to develop CRISPR Quality Control standards.In addition to her important work at KGI, Dr. Aran is also the Chief Scientific Officer of Cardea Bio, is a visiting Assistant Professor at UC Berkeley, and serves as a Consultant of Drug Delivery and Medical Diagnostics for the Bill & Melinda Gates Foundation. She received her undergraduate degree in electrical engineering from the City University of New York in 2007 and her Ph.D. in Biomedical Engineering at the Rutgers University in 2012. She then continued her postdoctoral studies in bioengineering at the University of California, Berkeley and was a recipient of the National Institutes of Health (NIH) postdoctoral training fellowship at the Buck Institute for Aging Research in 2015. Her efforts have been recently recognized by many awards in science and STEM including the Clinical OMICs 10 under 40 Award and the Athena Pinnacle Award. Dr. Aran was also the recipient of the NSF Career Award to develop the next generation of electronic sensors, and Nature's Scientific Achievment Award in 2021.On This Episode We Discuss:What is CRISPR and how does it work? How CRISPR is different from other genetic editing technologiesCurrent standards for therapeutic applications using CRISPRPotential side effects of CRISPR treatmentsThe risk for off target CRISPR’d edits (edits in other genes that were not intended)The CRISPR Quality Control standards that Dr. Aran’s lab is developingCRISPR-ChipTMApplications of CRISPR-Cas systems beyond genome editingPredicting when CRISPR treatments will be clinically available outside of studiesCRISPR babiesDr. Aran’s most recent NIH grant and future workLearn more about Dr. Aran’s research by visiting aranlab.org and read about her 1.63 million dollar NIH grant to help set Quality Control Standards for CRISPR Therapies! You can also read the paper that she co-authored in The CRISPR Journal about applications of CRISPR-Cas systems beyond genome editing in 2021. Follow Dr. Aran on Twitter and LinkedIn, and follow the Aran lab on Instagram!Stay tuned for the next new episode of DNA Today on August 19th, 2022 where we’ll be joined by Sam Sternberg, co-author of A Crack in Creation (who he wrote with Nobel Prize winner, Jennifer Doudna), to continue our discussion about CRISPR! New episodes are released on Fridays. In the meantime, you can binge over 195 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA.  Her professional career was devoted to developing and leading marketing teams at various large companies. In 2008 Lissa’s oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON).  Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker.  Lissa is a passionate LHON Advocate, devoted to advancing the science, educating about the disorder, and developing a vibrant, collaborative LHON community. She resides in Carlsbad, California.Devin received her Bachelor’s degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master’s degree in Genetic Counseling from the University of California, Irvine in 2017. She currently resides in Bellevue, Washington. In addition to her role at Genetic Support Foundation, Devin currently serves on the Medical Advisory Board for the GRIN2B Foundation and volunteers as the Young Adult Coordinator for the United Mitochondrial Disease Foundation. Her prior genetic counseling roles have included working at a telehealth genetic counseling company, a high-risk maternal fetal medicine clinic, a neurodevelopmental clinic, and an autism family registry. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities. On a typical Friday night, you’ll find Devin running a virtual support group for teens with mitochondrial disease – often with her Flemish giant rabbit or African grey parrot making an appearance.On This Episode We Discuss:Function of the mitochondriaGeneral symptoms that people with mitochondrial disorders experienceHow mitochondrial DNA impacts the inheritance pattern of mitochondrial conditionsHow the percentage of affected mitochondria correlates with the severity of symptomsJeremy’s journey to a LHON diagnosisThe percentage of people with the pathogenic variant for LHON that experience blindnessWhy people assigned as male at birth are more likely to be affected by LHON than people assigned female at birthTreatments available and clinical trials underwayDevin’s diagnostic odyssey and her unique perspective as a genetic counselor/patient advocateThe support group that Devin leads for teens with mitochondrial disordersTo learn more about mitochondrial disorders, visit the United Mitochondrial Disease Foundation, MitoAction, and the Mitochondrial Medicine Society. You can also check out Devin’s Ted-Ed Mitochondrial DNA talk, read about mitochondrial donation, and watch this video about mitochondrial fission and fusion.To learn more about Leber Hereditary Optic Neuropathy specifically, visit the LHON website, and check out the LHON Facebook group. In this episode, we mentioned some of the support groups that Devin leads. If you have a mitochondrial disorder and want to connect to others in the community, check out the Facebook support groups for teens-20s and 20s-40s. Devin also runs a weekly Zoom support call for ages 16-35, you can register here.Be sure to check out FreshCrayons on Etsy for your own mitochondrial plushy pillow that Devin showed off in the video! And enter our giveaway for a mitochondrial sweatshirt on Twitter, LinkedIn, and Instagram. If you found this episode topic interesting, check out episode 170 for more info about mitochondrial disorders, specifically primary mitochondrial myopathy. Stay tuned for the next new episode of DNA Today on August 12th, 2022! New episodes are released on Fridays. In the meantime, you can binge nearly 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are open now for the fall cohort which starts September 12th. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Our guest this week is Dr.Tod Klingler, who is the head of product research and development at Genomic Life. Over his 25-year career, Dr. Klingler has held leadership roles with organizations that have successfully developed and commercialized innovative products including Illumina, Roche, XDx (now CareDx) and Incyte. Dr. Klingler has also founded start-up companies such as Prospect Genomics and Station X. On this episode, he shares insights from his decades long career in the industry!Disclaimer: DNA Today is sponsored by some genetic companies. You can view the full list of DNA Today sponsors at DNApodcast.com/sponsors. Since we are both US based our conversation will focus on the industry in America. On This Episode We Discuss:Changes in genetic testing trends over the last few decadesThe benefits of companies shifting from specializing in specific types of genetic tests to expanding into multiple areas of geneticsHow laws, professional organization guidelines/recommendations and insurance changes affect genetic testing labsThe role of genetic counseling companies in the future Types of genetic testing (ex: Liquid Biopsies, PRS, WGS)Advice for genomic companies on best practices to become successfulRecommendations for resources for people to keep up with industry changesIn this episode, Tod shared some recommendations for resources for people to keep up with all of these genetic testing industry changes which you can access here: GenomeWeb, GA for GH, and Genome.gov! You can also check out the PGx legislation and HR 2144 that were mentioned during the interview.  Stay tuned for the next new episode of DNA Today on August 5th, 2022 ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! This week we’re continuing our Q and A discussion on genetic counseling program apps with Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Be sure to check out part 1 of our Q and A from last week, and if you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today! Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program.Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children.Listener Questions Answered:How should you talk about low grades or GPA in your application?Do you have any advice/resources for navigating financial aid?What’s one thing you wished you did differently?What advice do you have for BIPOC applicants? Shoutout to Isabella, Hope, Emily and other listeners for submitting our discussion questions! Don’t forget to listen to part one of this conversation in last week’s episode 193. Resources that were mentioned in the episode include GOLDEN and the Minority Genetic Professional Network. Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram!Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at gcprepllc.com for 20% off.  Stay tuned for the next new episode of DNA Today on July 29th, 2022!  New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Y’all asked and we answered! Some of our most popular episodes are about the genetic counseling application process, so we are doing a QnA about it in this episode. If you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today. Our guests for this episode are Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program.Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children.Listener Questions Answered:What activities, classes stand out in applications? How much shadowing or informational interviews are an acceptable amount? What factors were important to you when you were narrowing down what schools to apply to?How common are campus visits in grad school, and how do you recommend setting one up?Advice on how to craft a personal statement? What are the different approaches?For reapplicants, how should you showcase growth between app cycles? Shoutout to Ashley, Maya, Vivian, Leah, Bernabe, Hannah, Molly, Emily, Rachna, and Crystal for submitting our discussion questions! Don’t forget to tune in next week to part two of this conversation to see if we answer your question! Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram!Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at www.gcprepllc.com for 20% off. Stay tuned for the next new episode of DNA Today on July 22nd, 2022 where we’ll continue this conversation with Janelle and Mikayla and answer more of your questions about GC program applications! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Imagine a health record system that’s actually designed for genomics, available in different languages, and complete with pedigree drawing, diagnostic insights and more. Well stop imagining and start using, because PhenoTips is nothing like your EHR, it’s the world’s most complete solution for medical genetics that captures family history seamlessly, even respectfully representing trans and queer individuals in pedigrees. Visit Phenotips.com to learn more. (SPONSORED)

Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in theScience & Medicine CategoryIf you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get “DNA Today” nominated at PodcastAwards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st. But don’t wait, do it now so you don’t forget. The show has been nominated five years, including winning the last two years. This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to nominate “DNA Today” in the Science & Medicine Category. That’s because we are up against popular podcasts with huge production companies, so as a small independent podcast, we rely on each and every one of you to get nominated and hopefully win again! If you nominate us and share it on social media, tag us so we can repost it. Bonus: We will also give you a shoutout on the podcast/radio show. Thank you to all our listeners who have supported us for the last 10 years, that’s right. “DNA Today” is turning 10 this September. We also want to thank new listeners for inviting us into your earbuds, thanks for joining our nerdy community. So what better way to celebrate a decade of “DNA Today” than to defend our title as theBest Science and Medicine Podcast Award! We look forward to many more years of genetics podcasting ahead of us! Getting nominated in the Podcast Awards helps us grow and find new sponsors so we can continue bringing you more interviews with leaders in genetics.

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! On Friday, June 24th, 2022, the US Supreme Court released its decision in Dobbs v. Jackson Women’s Health Organizationvoting to overturn Roe v. Wade— the 1973 ruling that guaranteed federal constitutional protections of abortion rights. In this discussion we will be explaining the abortion laws and how this decision specifically affects genetic counseling with Laura Hercher. Laura is a seasoned genetic counselor and the host of ​​The Beagle Has Landed podcast. She is also on the team at Sarah Lawrence College’s Genetic Counseling program coordinating student research, directing the ethics course and facilitating the weekly current events discussion. In the week leading up to this episode we asked our listeners to submit their questions on our social media channels, be sure to listen to see if your question was answered!On This Episode We Discuss:Trigger laws and when they go into effectThe effect of this decision on pro-choice states (CT, NY, CA, etc)How this ruling disproportionately affects people who can’t afford to travel for abortionsGenetic counseling in a post-Roe world and how this decision affects the fieldThe legal ramifications for genetic counselors discussing patients’ options in abortion banned statesHow the overturning of Roe is going to impact pedigrees Receiving care (medication, D&C, D&E) in states that now have abortion bansHow this affects pregnancies that are non-viable and people with conditions where a pregnancy is life-threatening Recommended resources/organizations for people to donate money or volunteerFollowing this episode, DNA Today made a donation to The National Network of Abortion Funds, which aims to remove barriers to abortion access.  We encourage our listeners to do the same here. To stay up to date on the latest developments in the overturning of Roe v Wade and hear Laura’s thoughts on these issues, follow her on Twitter and LinkedIn. You can also follow her podcast, The Beagle has Landed, on Twitter and Facebook.Stay tuned for the next new episode of DNA Today on July 8th, 2022 where we’ll be welcoming Atticus Shaffer, who played Brick Heck on the ABC sitcom The Middle, to discuss his experience with Osteogenesis Imperfecta ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED)A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode.DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips’ Speaker Series, “Gender Affirming Care in Genetic Counseling”.The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein.Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients.On This Episode We Discuss:• Improving clinic experiences for transgender and gender non-conforming patients• Beyond standards: gender affirming family history collection• Challenges to providing gender affirming care in existing service delivery models• Education and advocacy in the genetics and genomics communityThe PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes.  Stay tuned for the next new episode of DNA Today on July 1st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED)A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips.The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen!As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group.Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss:Why it’s important to denote someone’s sex assigned at birthIncorporate same sex couples utilizing a donor or donors to concieve in pedigreesBest ways to indicate that someone is transgender on pedigreesRepresenting gender non-conforming or non-binary people on pedigreesMaking note of family members’s pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we’ll be dropping an installment of the PhenoTips Speaker Series! The topic of this week’s series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED)A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie’s dog, Frank, gets so excited when he sees me, and if I’m being honest, I think it’s more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia.  He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases.On This Episode We Discuss:How propionic and Methylmalonic Acidemia affect the bodyPA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMAThe goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA communityLiving with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseasesIf you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here.Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan’s journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram.Stay tuned for the next new episode of DNA Today on June 17, 2022, where we’ll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can’t wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics.June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine.On This Episode We Discuss:Facioscapulohumeral Muscular Dystrophy (FSHD)Types of FSHDCauses of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencingThe genetic etiology of FSHD type 1 vs 2Benefits of ordering FSHD testing through PerkinElmer GenomicsClinical trials for FSHDWhen the FSHD Society predicts that treatments will be available for people with FSHDTo learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram.  Stay tuned for the next new episode of DNA Today on June 10, 2022. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease.Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen.   Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia.  Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com.The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life. On This Episode We Discuss:Susannah’s journey to a diagnosisKif1A – and what a pathogenic variant (mutation) in this gene meansLiving with a nano-rare diseaseSusannah’s courage and joyFinding a treatment for SusannahTo hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org.  Stay tuned for the next new episode of DNA Today on June 3rd! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

Joining us this week is Dr. Yael Joffe, Founder and Chief Scientific Officer of 3X4 Genetics, a genetic testing partner for providers that allows them to bring genetic testing into their practice so that they can provide patients with more personalized and DNA-based actionable insights that will help them live better, longer, and healthier lives. Dr. Joffe is also a fellow podcaster! She is the host of The Power of Genetics, a podcast that features inspiring conversations and practical advice from the world’s top expert practitioners at the forefront of the future of health. Dr. Joffe is an expert in the field of nutrigenmoics, starting her career as a dietician before going on to earn her PhD in nutrigenomics from the University of Cape Town, exploring the genetics of obesity. She has authored 3 books, It’s not just your Genes, the SNP Journal, and Genes To Plate and has been published in peer-reviewed journals. As a true practitoner-scientist, she is passionate about translating the science of nutrigenomics into clinical practice and teaching everyone from students at Rutgers University to clinicians around the world. On This Episode We Discuss:Aspects of our metabolism and eating behaviors that have identified genetic links (Snacking v binging, feeling full, storing calories, etc.)Specific genes that contribute to BMIThe role of epigenetics in nutrigenomicsFamine studies revealing nutrigenomics insights How nutrigenetic tests workUtilizing information from nutrigenetic tests for personalized diet and exercise plans“DNA Dieting”Genetic conditions that have metabolic symptomsThe future of nutrigenomicsCheck out Dr. Joffe’s podcast, “The Power of Genetics”, in your fav podcaster player. And keep your eye out for a guest appearance from our host, Kira Dineen! Keep up with our guest, Dr. Yael Joffe on Instagram and LinkedIn, and stay up to date on the latest developments at 3X4 Genetics by following them on Twitter, Instagram, LinkedIn and Facebook.Stay tuned for the next new episode of DNA Today on May 27, 2022 which will be extra special because we’re dropping the pilot episode of The Patient Engagement Program by n-Lorem, a brand new podcast that is co-produced by our host, Kira Dineen! This podcast focuses solely on the needs of nano-rare patients, and you may recognize the voice of the show’s host, Dr. Stan Crooke, who was featured on Episode #141 of DNA Today!New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

In honor of Vision Health Month and Blindness Awareness Month, we are exploring Blueprint Genetics’ My Retina Tracker program with ​​Khalida Liaquat, who is a genetic counselor and the Senior Manager of Genomic Services at Quest Diagnostics. Our other guest is Ariana Lichtenstein, who is the Director of Business development at Blueprint Genetics. Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, they deliver high-quality genetic testing to the global clinical community across 15 medical specialties, with a customer base spanning over 70 countries. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare.Khalida Liaquat, MS, CGC, is a graduate of the Sarah Lawrence College genetic counseling program and is certified by the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts. Khalida is a Senior Manager of Genomics Services at Quest diagnostics and supports the Athena Diagnostics and Blueprint Genetics laboratories. Her clinical work history includes serving as clinical prenatal and pediatric genetic counselor at Kings County Hospital Center and Woodhull Medical Center in Brooklyn, NY. Her special interests include patient advocacy, variant sciences and education. Khalida is an active member of the National Society of Genetic Counselors.   Ariana Lichtenstein, MS, graduated cum laude from Vanderbilt University with a degree in Neuroscience. Her passion is the genetics of epilepsy disorders, and she conducted research on dopamine transporter protein in the Department of Pharmacology while at Vanderbilt. She is the Director of Business Development at Blueprint Genetics, managing relationships with BioPharma clients based in the Americas. Ariana has spent the past decade on the commercial side of the molecular diagnostics industry, working for both prenatal and postnatal commercial laboratories.On This Episode We Discuss:Inherited retinal dystrophies (IRD)The My Retina Tracker Program and registryThe benefits of joining rare disease registries The privacy of registries Informed DNA and its benefits How knowing one’s IRD gene mutation help them qualify for clinical trials Blueprint Genetics’ testing panelBenefits of genetic testing for IRD patients Want to learn more about inherited retinal dystrophies (IRD)? Blueprint Genetics is hosting a webinar on May 24th, 2022. Register here.  Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn. Connect with our guests, Khalida and Ariana on their social media channels: Khalida's Twitter, Khalida's LinkedIn, and Ariana's LinkedIn Stay tuned for the next new episode of DNA Today on May 20, 2022 where we’ll be joined by Yael Joffe, host of The Power of Genetics podcast, to discuss nutrigenomics! In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

Last episode (182) we were joined by Dr. Eric Green, the Director of the National Human Genome Research Institute (NHGRI) at the NIH. And we chatted about the recent completion of the human genome. To continue this conversation, I am joined by the co-founders of the Telomere to Telomere Consortium which lead this project!Dr. Karen Miga is an Assistant Professor in Biomolecular Engineering at The University of California, Santa Cruz. She is also the associate director of the UCSC Genomics Institute. The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. She received a B.S. in biological sciences from the University of Tennessee Knoxville and then went on to get a masters degree in genetics at Case Western Reserve University. Karen received her Ph.D. in genetics and computational biology from Duke University. She was named as “One to Watch” in the 2020 Nature's 10.Dr. Adam Phillippy is a Senior Investigator and Head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI). His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, alignment, clustering, forensics, and metagenomics. He received a B.S. in computer science from Loyola University Maryland in 2002. He first worked as a bioinformatics engineer at The Institute for Genomic Research (TIGR) and later received a Ph.D. in computer science from the University of Maryland in 2010. After graduate school he led a bioinformatics group at the National Bioforensics Analysis Center before joining NHGRI in 2015. In 2019, he was awarded tenure by the NIH and received the U.S. Presidential Early Career Award for Scientists and Engineers.On This Episode We Discuss:The recent announcement about the completion of the human genome sequenceThe name for this new human reference genome and what the letters stand forHow T2T-CHM13 complements the previous human reference genome, GRCh38Advantages of “long read” over “short read” DNA sequencing technologiesWhy telomeres and centromeres are hard to sequenceValuable information that we can learn from sequencing centromeres and telomeres The future of variant classificationLinking newly sequenced genes to genetic conditions or traits If you’re interested in learning more about the newly completed human genome, check out this article and newsletter! Stay up to date with the latest advancements  Be sure to follow Dr. Phillippy, Dr. Miga, and National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements!Stay tuned for the next new episode of DNA Today on May 13, 2022 where we’ll be joined by ​​Khalida Liaquat and Ariana Lichtenstein of Blueprint Genetics to discuss the My Retina Tracker Program! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

On this week’s episode of DNA Today we’re discussing the past, present, and future of the Human Genome Project and the Telomere to Telomere Consortium with Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH).The Human Genome Project is an international scientific research project that began in 1990, with the goal of determining the base pairs that make up human DNA, and identifying, mapping, and sequencing all of the genes of the human genome; however, no one chromosome has yet been finished end to end, and hundreds of gaps persist across the genome. The Telomere to Telomere (T2T) Consortium is an open, community-based effort to generate the first complete assembly of a human genome, filling in these unresolved gaps. Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications, a few of which we are chatting about today.As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005).On This Episode We Discuss:Dr. Green’s involvement in the Human Genome Project (HGP)The first chromosome to be completely sequencedWhen the human genome sequence was completedThe Telomere to Telomere (T2T) ConsortiumWhat made the last 10% of the human genome difficult to sequenceHow many genomes were studied for the HGPHow the fully complete genome sequence impacts peopleThe NIH’s All of Us Reacher ProgramLearn more about the Human Genome Project and what we talked about on this episode at genome.gov. If this episode piqued your interest, check out the articles below to learn about the most recent advancements in the Human Genome Project, and the work of the T2T Consortium. https://www.genome.gov/about-nhgri/Director/genomics-landscape/april-7-2022-the-human-genome-sequence-is-now-completehttps://www.scientificamerican.com/article/completing-the-human-genome-sequence-again/https://www.genome.gov/10000666/1997-news-release-pendred-syndrome-geneBe sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements!Stay tuned for the next new episode of DNA Today on May 6, 2022 where we’ll continue discussing the Human Genome Project and the Telomere to Telomere Consortium with Drs. Miga and Philippy. New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts.Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are closing for the summer cohort, and there are spots available for fall 2022. (SPONSORED)

To celebrate DNA Day we are joined by Dr. Stephanie Ryan! In this podcast episode, Dr. Ryan discusses science education and communication, especially making science understandable for kids. To keep the celebrations going we will be co-hosting a virtual event on DNA Day itself, Monday, April 25th at 6pmET! During this special DNA Day event we will do a live DNA experiment with Dr. Stephanie Ryan. You can follow along at home to do the experiment with us! You can register for the event here.Stephanie Ryan, Ph.D. is a chemist, boy mom, and a social media influencer who enjoys using her background in academia to create educational products and content, helping young kids learn through play about the fascinating world around them. Over the years, Dr. Ryan has taught science to all age groups, both in and out of the classroom, helping toddlers learn about their world and college students define theirs. She is an active member of the chemistry education community and is currently a committee member of the International Activities Committee for the Division of Chemical Education. Ryan earned her Ph.D. in the Learning Sciences and her M.S. in Analytical Chemistry from the University of Illinois at Chicago. She earned her B.S. in Chemistry from Saint Mary’s College.On This Episode We Discuss:Thoughts on correcting kids if they have an incorrect understanding What to do if kids ask questions that we don’t know how to answerRecommended resources for parents/caregivers to foster scientific curiosity in their children from a young ageThe recommended age kids should start learning about STEM conceptsThe inspiration behind Dr. Ryan’s book, “Lets Learn About Chemistry”Advice for being a science communicator, especially on social media Want a free copy of “Lets Learn About Chemistry”? Head over to our social media to enter our giveaway! Search “DNA Today” on Twitter, Instagram, and Facebook. For great learning activities in the sciences, book recommendations, and more, follow Dr. Ryan on Instagram and visit her website letslearnaboutscience.com. Also don’t forget to mark your calendar for Monday, April 25th. It’s DNA Day! At 6pmET we will be co-hosting a virtual event with Dr. Ryan. She will be our guide for doing these at-home DNA experiments together! Register here.Stay tuned for the next new episode of DNA Today on April 29, 2022, where we’ll be discussing the completion of the human genome with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH)! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts.

We are excited to share that Kourtney Kardashian recently featured in DNA Today in an article on Poosh, “How Genetics Play the Ultimate Role in Health”. Our host, Kira Dineen, shares insight on genetic counseling and epigenetics. The Chief Medical Officer of Mitera, Dr. Kathy Salari, joins the show. Mitera is a telehealth company that offers a unique care model that uses remote technologies and subspecialty medical oversight to responsibly democratize access to reproductive genetic testing. On this episode, Dr. Salari will be sharing about Mitera’s at-home reproductive genetic testing options including non-invasive prenatal screening and carrier screening. Dr. Kathy Salari is a maternal-fetal medicine subspecialist with expertise in caring for high-risk pregnancies. Her clinical work primarily focuses on reproductive genetics and fetal imaging. She received her Bachelor’s degree in Molecular Genetics from U.C. Berkeley in 2001 and her medical degree from U.C. San Diego in 2008. She then went on to complete her residency in Obstetrics & Gynecology followed by a fellowship in Maternal-Fetal Medicine at the University of Michigan in 2014. Following completion of her training, she began her clinical career as a maternal-fetal medicine specialist in the San Francisco Bay Area. In a period of two years she was named Chair of Clinical Genetics as well as the Director of Fetal Imaging and Perinatal Genetics at Palo Alto Medical Foundation. During her tenure as the director of a high volume fetal imaging center and maternal-fetal medicine group, her passion for timely and accurate diagnosis of birth defects and delivery of evidence-based obstetric care was emboldened. Driven by a vision for bringing subspecialty reproductive health expertise to every pregnant person across the country, she founded Mitera in 2019. By employing a telehealth platform for reproductive genetic testing, she hopes to bridge gaps in maternity care and broaden access to the responsible delivery of diagnostic technologies across the country. On This Episode We Discuss:Inspiration behind MiteraGenetic conditions included in Mitera’s 23Pears carrier screening kitKira’s experience with 23Pears and what consider she is a carrier ofInformed consent process for ordering genetic testingHow results are shared with patientsInformation included in Peaches&Me (Non-Invasive Prenatal Screening)Why Mitera’s tests do not include microdeletions (NY Times article referenced) How patients can order Mitera testing  >>>>> Insert YT Mitera Video  <<<<<< Check out the NY Times article mentioned during the conversation. To learn more about reproductive genetic testing and order a Mitera test, visit their website and check them out on Instagram, Facebook, and LinkedIn, and be sure to connect with our guest, Dr. Kathy Salari, on LinkedIn! Be sure to check out our social media channels this week as we’ll be giving away a Mitera Carrier Screening Kit!Stay tuned for the next new episode of DNA Today on April 22, 2022 where Dr. Stephanie Ryan will be sharing at-home experiments that you can do in honor of the upcoming DNA Day! You can also join us for our DNA Day celebration on April 25th at 6pmET, where we will extract DNA from fruit together! Register for the Zoom here. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Questions/inquiries can be sent to info@DNApodcast.com. If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.The Big Biology podcast dives deep on some of the most provocative and exciting topics in biology today, in a fun and accessible way. In each episode, hosts Art Woods and Marty Martin, biology professors themselves, talk to leading scientists and journalists from around the world about the biggest, most cutting-edge topics in biology. From human consciousness, human origins, new directions in evolutionary theory, to the emergence and spread of zoonotic diseases like COVID-19, and much more! Whether you are a researcher, teacher, student or simply curious about science and biology you’ll love the entertaining and deep conversations about biology and the exposure to new research they bring. Learn more at BigBiology.org, and subscribe, rate and review on, Spotify, Apple Podcasts, Google Podcasts, or wherever else you get your podcasts.

This week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast, discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed! To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequencing. We even discussed direct-to-consumer genetic testing like 23andMe and ancestry including the potential (and current) uses for criminal justice. We speculated about social implications of the testing along with other futures that may be in store for genetic testing. On This Episode We Discuss:The process and science behind genetic testingTypes of conditions that can be tested forThe difference between genotyping and sequencingDirect-to-consumer genetic testing Social implications of testingThe future of genetic testingIf you enjoyed James’ interview style be sure to subscribe to The Science of Everything Podcast! Keep up to date with James and the podcast on Facebook and LinkedIn.Stay tuned for the next new episode of DNA Today on April 15, 2022 where we’ll be discussing reproductive DNA testing with Mitera! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by  analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.

Dr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen, a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease. Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Method of the Year 2020"!Dr. Emanuel has spent the past decade developing high-throughput spatial profiling technologies including extending Vizgen’s MERFISH (Multiplexed Error-Robust Fluorescence in situ Hybridization) technology to profile 10,000 genes in the same sample. He received dual undergraduate degrees from the University of Colorado, and a Ph.D. in Biophysics from Harvard University.On This Episode We Discuss:Single-cell spatial genomicsDifference between sequencing genes and analyzing spatial gene expressionInsight for researchers through gene expression analysisMERFISH & MERSCOPELimitations of the testingAreas of research that MERFISH can be applied toHow can researchers get access to a MERSCOPE PlatformIf you’re interested in learning more about Vizgen’s technology, visit their website to play around with the MERSCOPE Vizualizer, and check out their papers on mapping the brain  and how MERFISH was demonstrated on 10,000 genes.Keep up to date with the latest developments at Vizgen by following them on Twitter, Facebook, and LinkedIn, and connect with our guest, Dr. George Emanuel on Linkedin!Stay tuned for the next new episode of DNA Today on April 8, 2022 where our host, Kira Dineen, will be on the other side of the mic. She will be interviewed by James Fodor of The Science of Everything Podcast about genetic testing. New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by  analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)Sema4 offers an extensive portfolio of health information solutions, including pre-clinical and clinical trial support, analytics for actionable insights, and advanced sequencing services. Sema4’s family of precision oncology products and services, Sema4 Signal®, provides data-driven care solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests. Learn more about their mission at Sema4.com. Sema4, a patient-centered health intelligence company. (SPONSORED)

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.On This Episode We Discuss:The difference between WES and WGSHow WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expectingSituations in which trio testing is helpful for WGSPrenatal WGSThe future of newborn screeningWGS for hereditary cancer syndromesHow people learn more about PerkinElmer’s WGSLearn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn.Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED)Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by  analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)

We are ecstatic to introduce this week’s guest, Lauren Potter! You might know Lauren as Becky Jackson from the TV show Glee. She was in all six seasons playing a character who, like her, has Down Syndrome! After graduating high school and attending college in California, Lauren began acting, starring in her first film at the age of 16. In 2012 she was nominated for a SAG award in the Ensemble in a Comedy Series category for her work in Glee, and she also received the SAG/AFTRA Harold Russell Award at the 2012 Media Access AwardsOn top of being a fabulous and successful actress, Lauren is also a fierce advocate. President Obama appointed her to the President’s Committee for People with Intellectual Disabilities. She has advocated with AbilityPath, Best Buddies International, the National Down Syndrome Society, The American Association of People with Disabilities, and Special Olympics. We are honored to have Lauren on the show, and the timing couldn’t be more perfect with World Down Syndrome Awareness Day coming up on March 21st! This day was chosen because people with Down Syndrome have three copies of chromosome 21, so the 21st day of the 3rd month.On This Episode We Discuss:What it is like growing up with Down SyndromeLauren’s experience auditioning for the role of Becky on GleeWhat Lauren wants people to know about how the R word can affect peopleLauren’s advocacy work with Best Buddies and the President’s Committee for people with Intellectual Disabilities“A Guest Room” a short film where Lauren was the lead actress and executive producerInspirational advice for people with Down SyndromeAdvice for parents who may have just found out their baby has Down SyndromeBe sure to follow Lauren on Twitter, Facebook, and Instagram to stay up to date on her advocacy work and latest acting roles!Stay tuned for the next new episode of DNA Today on March 25, 2022 where we’ll be discussing whole genome sequencing with world-renowned geneticist Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics. New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED)Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “The DNA Guide for Adoptees” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear Brianne share her insight from her book in Episode 103 of DNA Today! Learn more atWatershedDNA.com where you can also book your consult today with Brianne. (SPONSORED)

This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant, a service that dedicated to helping patients and families understand unique genetic variants and provides different avenues of informing family, or even people distantly related, of possible inherited risk of diseases like cancer.Dr. Shirts is an Associate Professor of Laboratory Medicine at the University of Washington. His research focuses on integrating complex genetics knowledge into clinical care. His main goal is to help prevent all hereditary cancer. He is currently working to improve strategies to help people with inherited cancer risk connect with close and distant relatives, classify rare variants, and to improve how genetic information is presented to both patients and clinicians. In his clinical role, he is one of a small group of geneticists and laboratory pathologists who supervise BROCA and ColoSeqTM tests for hereditary cancer risk at the University of Washington.On This Episode We Discuss:Common cancer genesThe importance of sharing genetic test results with family membersWhat should people consider before posting their variant online and how GINA protects themThe inspiration behind creating “Connect My Variant”Why it is helpful to connect with people who have the same variantHow genetic counselors and other healthcare providers can share “Connect My Variant” with their patientsTo connect with other individuals with the same mutations, visit the Connect My Variant message board, and to learn more about cancer genes visit The American Cancer Society and Black Cancer Genes (featured on Episode #159 of DNA Today). Check out Heather Hample’s article Dr. Shirts mentioned about families in Ohio with Lynch syndrome. Keep up to date with Connect My Variant on Facebook and Instagram and connect with our guest Dr. Shirts on LinkedIn.Stay tuned for the next new episode of DNA Today on March 18, 2022! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on episode #174 of DNA Today! (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Today I want to recommend a podcast to you called Our Opinions Are Correct hosted by Charlie Jane Anders and Annalee Newitz.Every other week, Our Opinions Are Correct dissects a different topic related to science fiction, science, and everything in between. They've talked about everything from how to write a good fight scene, to the death of the universe. Charlie Jane Anders is an award winning author of several science fiction novels, including recently released Victories Greater than Death. Annalee Newitz is an award winning science journalist who writes for The New York Times and the Atlantic. Together, they will befriend cosmic monsters! Subscribe to Our Opinions Are Correct on Apple Podcasts, and anywhere else you listen to podcasts! (SPONSORED)

This week we’re joined by Gregory Kellog of Fulgent Genetics. In this episode we explore pharmacogenomics.Gregory is the Director of Genetic Counseling at Fulgent Genetics, a technology-based genetic testing company. Prior to serving as the director, Gregory served as the Genetic Counseling Manager at Fulgent, and worked in various roles for other genetic testing companies over the last 7 years including Recombine, Phosphorus, and Illumina. He completed his master of science in human genetics and genetic counseling at Stanford University School of Medicine.On This Episode We Discuss:What is pharmacogenomics? Aspects of metabolizing drugs that pharmacogenomic screening evaluates (i.e. Toxicity, Lack of Efficacy, Hypersensitivity)How pharmacogenomics testing decreases the risk of adverse drug reactionsGenetic counseling for pharmacogenomicsRoadblocks (ethical, social, legal, privacy) impacting widespread use of pharmacogenomic testingPicture Genetics’ PGx kitYou can check out the CPIC Guidelines and the FDA Table of PGx Associations that Greg mentioned during the episode. ​​Discover if the medication you take might be affected by your genetics. See the full list of genes evaluated by Picture Genetics’ PGx test here. Learn more about Picture Genetics on their website, and follow them on LinkedIn, Twitter, Facebook, and Instagram, and keep up with our guest, Gregory Kellog, on LinkedIn. Stay tuned for the next new episode of DNA Today on March 11, 2022 where we’ll be chatting with Brian Shirts from ConnectMyVariant about the Hereditary Cancer Variant Network! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Joining us for the last episode of rare disease month is Keith McArthur. Keith is the co-founder and CEO of CureGRIN, a non profit rare disease organization. He is also a published author and he’s a fellow science podcaster, Unlocking Bryson’s Brain (one of our favorite podcasts!). But most importantly, Keith is the loving father of Bryson, who was diagnosed with a GRIN1 related disorder.Keith McArthur got a second chance at life in 2017 when his little sister donated her kidney for transplant. Now, he writes and podcasts about his journey to becoming happier and healthier. Keith is the creator of My Instruction Manual — a website, podcast, and book series providing high-quality, personal-development content. Previously, Keith has worked as an award-winning journalist, a social media and public relations strategist, and a senior executive at one of Canada’s largest companies. He has written and edited several books, and serves as the president and publisher of FanReads Inc. His newest self-help book is Winning Resolutions: Achieve Your Biggest Goals and Wildest Dreams Once and For All. Keith’s previous book — 18 Steps to Own Your Life — was a silver medalist in the Non-Fiction-Motivational category of the 2018 Readers’ Favorite Awards.On This Episode We Discuss:GRIN1 mutations and GRIN1-related disordersBryson’s diagnostic odysseyConnecting with other GRIN families Keith’s motivation for starting CureGRINHow the public interacts with individuals in the rare disease communityGRIN1 research in mice and the “Bryson” mouseTo learn more about GRIN1 research, check out GRIN Therapeutics, which focus entirely on developing potential treatments for the GRIN community. You can also head over to Homology Medicines, Inc that Keith mentioned during our recording. Keep up with Keith on Twitter, LinkedIn, and Instagram, and stay up to date on what’s happening at CureGRIN by following them on Twitter, Facebook, LinkedIn, and Instagram.Stay tuned for the next new episode of DNA Today on March 4th, 2022 with Fulgent Genetics about Pharmacogenomic testing! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com.

DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz.With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas.Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world.Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine.Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library.In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address:The latest technological advances helping to reduce the diagnostic odyssey for patientsThe greatest challenges faced by patients and clinicians and methods to overcome themThe role of bioinformatics in the analysis of large datasets generated from sequencingThe role of rare disease diagnosis in precision medicine.Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips’ Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson’s Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative programs by visiting kgi.edu. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

In honor of Rare Disease Month we are continuing to highlight different rare diseases. This week we explore Farber Disease with Dr. Alex Solyom, Senior Vice President of Rare Disease Development at Aceragen, and Katie Crosby, is a certified genetic counselor and the Associate Director of Patient Engagement. Dr. Alex Solyom is a pediatrician with real-world expertise in rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. He has over 13 years of clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development.In his role at Aceragen, he is involved in the strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affairs. He has been the architect of rhAC clinical development program from its inception and is responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA with a focus on delivering benefit to patients and other stakeholders efficiently and effectively.Katie Crosby joined Aceragen with over 8 years of experience working in clinical care and research for rare diseases. As a board-certified genetic counselor, Katie specializes in supporting patients and families to understand and navigate their genetic diagnoses.Before joining Aceragen, Katie served as a clinical genetic counselor and lysosomal storage disease program coordinator in the Rare Disease Institute at Children’s National Hospital. During her time there, she supported patients through diagnosis and long-term management as well as managed multiple clinical trials, natural history studies, and patient registries for lysosomal storage disorders, including Pompe disease, Gaucher disease, Fabry disease, MPS II, MPS IVA, MPS VII, and Farber disease. Katie also worked as a tele-medicine genetic counselor and team lead at Metis Genetics. Katie received a Bachelor of Science in biology from Villanova University and a Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai.On This Episode We Discuss:Farber disease and the larger family of lysosomal storage disorders Diagnosis and misdiagnosis of Farber disease The inheritance pattern of Farber disease and screening for the disease Available treatments for Farber disease and those in development by AceragenRequirements for Aceragen’s no-cost genetic testingHow Farber disease research can provide general information for other diseasesHead over to their website Aceragen.com to learn more, including their page about Farber Disease and follow them on Twitter. If you would like to contact Aceragen directly at patientinfo@aceragen.com. Stay tuned for the next new episode of DNA Today on February 18, 2022 where we’ll be discussing advances in rare disease diagnosis! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)I’m involved in some entrepreneur groups in the Greater New York City area. Recently, I attended a pitch event for women entrepreneurs and was so inspired by one in particular who founded PATCH10. PATCH10 has created high quality clothing to help people look and feel their best while undergoing medical treatment. PATCH10’s unique clothing designs make accessing intravenous areas simple. They eliminate the need to change into a hospital gown (which let’s be honest, no one likes) and can be worn before, during and after treatment. Use code “DNAToday” at checkout for 10% off at PATCH10.com. (SPONSORED)

To celebrate February as rare disease month we will be interviewing leaders in rare diseases throughout the month! In this episode we explore new research in one of the mitochondrial disorders, primary mitochondrial myopathy (PMM). Joining us for this conversation is Dr. Alejandro Dorenbaum, the Chief Medical Officer of Reneo Pharmaceuticals, who is currently studying an investigational therapy for PMM. Dr. Dorebbaum is a board-certified allergist-immunologist with over 25 years of experience in drug development and clinical trials. Prior to serving as the CMO of Reneo Pharmaceuticals, he served as the Chief Medical Officer of several other pharmaceutical companies, where he achieved proof-of-concept in clinical trials for novel therapeutic antibodies targeting inflammatory cells. He received his medical degree from the National Autonomous University in Mexico City, and completed his residency in pediatrics at the University of Texas Health Science Center and held fellowship in allergy and immunology at Baylor College of Medicine. He maintains an active academic position as Clinical Professor in Pediatrics at Stanford University School of Medicine. On This Episode We Discuss:The function of the mitochondriaChallenges of living with a mitochondrial conditionHow primary mitochondrial myopathies (PMM) are uniqueHow the percentage of affected mitochondria correlates with the severity of symptomsWhat Reneo doing to help diagnose more patients with PMMReneo’s STRIDE study for treatment of PMMTo learn more about the STRIDE study, check out the study website or search for it on Clinicialtrials.gov. Be sure to follow Alejandro on LinkedIn and Reneo Pharmaceuticals on Twitter.Stay tuned for the next new episode of DNA Today on February 11, 2022 where we’ll be discussing Farber disease with Aceragen! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at ​​vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics (SPONSORED). Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow (SPONSORED). PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com (SPONSORED).

On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics. Dr. Ivan Liachko is the Founder and CEO of Phase Genomics and has worked in the genetic/genomic research field for over 20 years. He has authored over 20 peer reviewed papers and created multiple patents specializing in the field of microbial genomics and synthetic biology. Dr. Liachko is one of the original inventors of the Hi-C assembly and metagenomic deconvolution and has over a decade of experience in scientific management and mentorship. He received his PhD from Cornell University.Our other guest is Dr. Stephen Eacker, VP of Research and Development for Phase Genomics, who is also a lifelong scientist. Prior to starting his role as VP, he served as a Senior Research Scientist and was part of the faculty at Johns Hopkins University where he was the Principal Investigator of a laboratory focused on using the ribosome as a platform for understanding neurobiology. He received his PhD from the University of Washington in Genome Sciences/Genomics. On This Episode We Discuss:Next generation cytogenomic technologies like CytoTerra and OncoTerraWhy ultra-long-range sequencing is advantageous compared to other approachesTypes of chromosomal abnormalities that can be identified with this technologyIdentifying genetic changes that lead to pregnancy losses and how identifying these changes can help with future pregnanciesHow researchers can get early access to CytoTerraInterested in today’s episode topic? Watch this webinar from Phase Genomics about next generation cytogenomics for reproductive genetics and oncology, and read this press release about Phase Genomics’ new platform to detect chromosomal abnormalities. To learn more about Phase Genomics, be sure to follow them on Twitter, Facebook, LinkedIn and Instagram and keep up with our guests, Dr. Ivan Liachko on Twitter and LinkedIn, and Dr. Steve Eacker on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on February 4, 2022 where we’ll be discussing mitochondrial disorders to kick off rare disease month! In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Aceragen is a rare disease biopharmaceutical company. Aceragen takes on rare, orphan diseases that typically have no approved treatments, and works to develop therapies to help patients. The needs of patients who suffer from under-served rare diseases drive Aceragen’s mission. Be sure to tune into our episode with Aceragen in February as we celebrate rare disease month! Learn more at aceragen.com. Aceragen working for a better life for patients with rare diseases. (SPONSORED)PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com. (SPONSORED)Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (SPONSORED)

Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica PRS clinical academy covering the research behind PRS to clinical applications. You can enter by looking for  us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th. Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores. Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature. He is a co-founder and CEO of Allelica, which created a software to help clinical genetics labs to perform polygenic risk score analysis.On This Episode We Discuss:Defining polygenic risk scores (PRS)? How PRSs are empowering the next generation of clinical genomics  Types of conditions that PRS can be calculated forWho can benefit the most from PRSsHow Allelica is addressing the underrepresentation of people of Non-European descent in genetic studies with PRSUsing PRS to assess risk for heart disease and cancerTo learn more about Giordano, check him out on Twitter, LinkedIn and Instagram, and stay up to date with Allelica on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on January 28, 2022 where we’ll be discussing cytogenomics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.org. (SPONSORED)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are closing for the spring cohort, but there are still spots available for summer and fall 2022. (SPONSORED)PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com (SPONSORED)

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Cancer Genetics”.Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to translate cancer genetics knowledge into realizing precision medicine. To prepare practitioners for the future of cancer genetics, PhenoTips invited Dr. Banu Arun and Dr. Mark Robson to share their insights.Dr. Arun is a Professor in the Department of Breast Medical Oncology, Co-Medical Director of the Clinical Cancer Genetic Program, and Section Chief of Breast Genetics, Prevention, and Screening at the University of Texas MD Anderson Cancer Center. Hailed by Forbes as one of the top 30 Breast Medical Oncologists in the United States, she has received the FASCO award recognition in 2020 from the American Society of Clinical Oncology (ASCO) and the ASCO-American Cancer Society 2021 Award. Dr. Arun has more than 200 peer-reviewed publications with research focusing on identifying risk biomarkers for breast cancer, and characterizing risk factors in high-risk women with hereditary gene mutations as well as assessing their breast cancer biology. In addition she has reviewed for prestigious journals, such as BMJ, JCO, Cancer, Cancer Prevention and Epidemiology, and served in several committees including her current position as the Co-Chair for the SWOG Prevention and Epidemiology Committee.Dr. Robson is the Chief of the Breast Medicine Service in the Department of Medicine at Memorial Hospital, New York, Attending Physician on Breast Medicine and Clinical Genetic Services, and a Member of the Memorial Sloan Kettering Cancer Center. He is an associate editor for the Journal of the National Cancer Institute and a Fellow of the American Society of Clinical Oncology (ASCO), as well as a past chair of the ASCO Ethics Committee. His clinical research is on the optimal application of germline information to the management of cancer patients. He has been a lead investigator for trials of PARP inhibitors in patients with BRCA mutation–associated breast cancer and is currently developing new models for the acquisition of germline information, including "mainstreaming" through test ordering by primary oncology providers and broad genomic screening in the context of somatic mutational profiling. In addition, he is investigating the use of polygenic risk scores in facilitating decision-making among women with or without an inherited predisposition.In this webinar moderated by Kira Dineen, Dr. Arun and Dr. Robson will illuminate the future of cancer genetics by discussing:The latest technological advancements in cancer genetics.Barriers in the specialty and methods to overcome them.Strategies to prepare practitioners for the future of cancer genetic care.Hope to see you live for the next installment of Phenotips Speaker Series on January 18th about ending the diagnostic odyssey! PhenoTips' Chief Operating Officer and VP of Scientific & Medical Affairs, Dr. Pawel Buczkowicz, will be speaking with Dr. Ana Cohen, Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children's Mercy's Center for Pediatric Genomic Medicine. Register here for the live event on January 18th at 11am-12pmEST. Stay tuned for the next new episode of DNA Today on January 21st, 2022 with Allelica’s Giordano Bottà to discuss polygenic risk scores! New episodes are released on Fridays. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.  DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (SPONSORED)Did you know that most cancer samples cannot be subjected to some of the most common cytogenetic analyses due to their storage in formalin and other intractable storage conditions?  Don’t let difficult sample types and convoluted assay cascades get in the way of your research! Phase Genomics has developed a brand new Next Generation Cytogenomics platform to advance discovery  in reproductive genetics and precision oncology. A single assay has the ability to do comprehensive testing for chromosomal abnormalities in fresh, frozen, AND even paraffin-embedded FFPE samples. Learn more about Phase Genomics’ incredible new platform in cytogenomics by visiting PhaseGenomics.com. You can also hear our in depth interview with them on episode 169 of DNA Today which will be released on January 28th. (SPONSORED). PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)Are you a genetic counselor or genetic counseling student? Join me in participating in a research study surrounding education on gender-affirming care in genetic counseling. This study is from the University of Michigan Genetic Counseling Program. It requires a pre and post test survey along with an online 2-3 hour educational tool. I just got access to the modules and am looking forward to learning this week! And here’s a bonus: you are entered to win one of 10 $50 gift cards! Complete the survey here . (SPONSORED).

Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts! We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality. To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on the podcast to discuss beta thalassemia. Radhika is a genetic counselor and patient advocate for thalassemias. She worked as the National Director of Patient Services for the Cooley's Anemia Foundation prior to joining the faculty of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College (where she met our host Kira Dineen!) Radhika has a personal tie to the community as she has beta thalassemia major and frequently speaks on behalf of the New York Blood Center as a volunteer blood donor advocate. On This Episode We Discuss:Types of thalassemias How beta thalassemia has impacted Radhika’s lifeThe evolution of treatments for beta thalassemia and their impact on life expectancy for those with the conditionThe genetic difference between sickle cell and beta thalassemia What Radhika wants genetic counselors and other healthcare providers to understand about the experience of living with beta thalassemiaThe importance of blood donation and requirements to be a donorLearn more about thalassemia in Radhika Sawh’s 2021 paper, “Transfer of care for people with severe forms of thalassemia: Learning from past experiences to create a transition plan” and check her out on LinkedIn.Stay tuned for the next new episode of DNA Today on January 14th where we’ll be discussing the future of cancer genetics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.  Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Spring 2022 cohort starting January 31st, and a limited number of spots are still available.  (SPONSORED)Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com.  (SPONSORED)Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)

In this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk.On This Episode We Discuss:Sandra’s personal experience with breast cancer The difference between Sanger Sequencing and Next Generation SequencingSequencing versus genotypingVarious number of genes on a hereditary cancer panelHow the availability and accessibility of genetic testing differ around the worldDr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She formerly held positions at Illumina, most recently as Staff Segment Marketing Manager Oncology. Sandra holds a Ph.D. in molecular biomedicine, is a mother of two young children, and breast cancer survivor who advocates for genetic testing in developing countries and among ethnic minorities.Learn more about Sandra by reading this Illumina article about her journey, or check her out on LinkedIn. Did today’s episode topic peak your interest? Read the article, Inherited Cancer in the Age of Next-Generation Sequencing, that inspired our questions!Stay tuned for the next episode of DNA Today in the new year on January 7th, 2022! We’ll be joined by genetic counselor and patient advocate Radhika Sawh to discuss Thalassemia and blood donor awareness. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED)Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. ThermoFisher Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)Have you heard of the new app Wisdom? It’s a social audio app for open access to mentorship. You can talk live with experts about anything. Our host, Kira Dineen, will be giving her first wisdom talk on January 5th at 5:30pmET / 2:30pmPT. You can tune in live by downloading the Wisdom app, then following me @DNAtoday. That way when she goes live on January 5th you will get a notification and can jump in. Podcasts can be very one way, whereas Wisdom allows us to chat. She wants to answer your questions about genetics, genetic counseling including grad school, or the podcast. It will be a live QnA! We can’t wait to talk to you then! (SPONSORED)

This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research. On This Episode We Discuss:How Parkinson’s Disease (PD) affects the bodyGenes that play a role in the development of PD Genetic testing for family members of patients with PDThe PD GENEration project and how it is helping people with PDUnderrepresentation of Hispanic people in PD genetic research How to achieve more inclusivity with research in the PD spaceLearn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing. Check out more about the PD GENEration on the Parkinson’s Foundations website, including how to enroll in the study. If you have questions about enrollment send them to genetics@parkinson.org.PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://parkinson.org/pdgeneTo stay up to date on the latest PD news and research follow The Parkinson’s Foundation on Twitter, Facebook, LinkedIn, and Instagram. And be sure to check out Dr. Beck’s, and Dr. Mata’s on Twitter!Dr. James Beck is the Senior Vice President and Chief Scientific Officer at The Parkinson's Foundation. In his role, Dr. Beck sets the strategic direction for the Parkinson’s Foundation research vision, and oversees a portfolio which has guided more than $360 million in research to explore what causes Parkinson’s disease (PD) and how to improve treatments, and he has played an integral role in positioning the organization as a world’s leader in accelerating Parkinson’s research. He is currently an Adjunct Associate Professor in the Department of Neuroscience and Physiology at the New York University School of Medicine. He holds a BS from Duke University and a PhD from the University of Washington, Seattle. Dr. Ignacio Mata is a member of the Parkinson’s Foundation Hispanic Parkinson's Advisory Council, which develops strategies to increase clinical research education, awareness and participation among Hispanic people with Parkinson’s throughout the United States. He is also an Assistant Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine. He received his BSc and PhD degrees from the University of Oviedo, Spain. His current research focuses on the identification of genetic risk factors for several quantitative traits involved in cognitive impairment in PD and the identification of novel genes causing familial forms of PD.Stay tuned for the next new episode of DNA Today on December 17, 2021 where we’ll be discussing sequencing to assess inherited cancer risk! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Did you know genetic changes account for an estimated 5-10% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics offers Picture PD Aware, an at-home DNA test for Parkinson’s disease risk. Powered by clinical laboratory Fulgent Genetics, Picture PD Aware is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow (SPONSORED).Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED)

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss:Genetic causes of Prader-Willi Syndrome (PWS)Challenges faced by caregivers of patients with PWSPWS symptom management Harmony Bioscience’s phase 2 clinical study in PWSRequirements for study participationCheck out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey.Refer your patients to Knowrare to join the study here.  Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Rachel Pastiloff is a mom of 2, who lives in southern California. She’s active on Instagram, teaching hard, cold facts of living with a child with a rare disease and she is passionate about advocating for her 15 year old son, Blaise, with Prader-Willi Syndrome and the entire family’s wellbeing.Krystle Davis is the senior manager of clinical operations at Harmony Biosciences where she oversees the execution of clinical operations of a phase 2 clinical trial in Prader-Willi syndrome. Krystle has over 12 years of combined experience working in the biotechnology, pharmaceutical, and clinical research industries and she enjoys working in clinical research, knowing her work may make a difference in someone’s life. She completed her Bachelor of Science in Biology at Meredith College and a Master of Science focused in Clinical Research at Campbell University.Understanding how our DNA contributes to disease risk is no longer science fiction. Polygenic Risk Scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use PRS to assess how a person’s DNA influences their risk of common diseases.Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems, clinical laboratories and research institutes can be equipped with Allelica’s cutting-edge tools to deploy PRS to identify more people at high risk to reduce the impact of common diseases. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open house at Sarah Lawrence College! In this you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The open house is on December 7th. Go to SLC.edu/DNAtoday, or use the links in the show notes, to sign up for the free genetic counseling open houses. See you there! (SPONSORED)Do you work in cytogenetics? Thinking about applying to new jobs? Well I found a great position for you at UNC Health. In this Senior Cytogenetic Technologist position you will join a team of 20 fellow technologists and specialists. The Cytogenetics Lab at UNC Health performs prenatal, postnatal, and cancer cytogenetic testing on about 5,000 cases every year and you have the opportunity to perform conventional cytogenetics, FISH and microarray testing.  To learn more about the position and submit your application, use the link in our show notes. You can also access the link at DNApodcast.com. (SPONSORED)

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”.This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast approaching future, PhenoTips invited Amy Sturm and Erynn Gordon to share their experience-based insights.Erynn Gordon is currently the Founder and President of Ripple Genetics Consulting, with prior VP and Presidency roles at Genome Medical, 23andMe, and the Coriell Personalized Medicine Collaborative. With 20 years of experience, Erynn has been deeply engaged in the genetic counseling community, having served as past president of the American Board of Genetic Counseling and on the Board of Directors for the National Society of Genetic Counselors.Amy Sturm is a Genetic Counselor and Professor within the Genomic Medicine Institute at Geisinger with nearly 20 years of experience in the field of genetic counseling. Amy was the 2019 President of the National Society of Genetic Counselors, and currently serves as the Chair of the Advisory Board to the NIH All of Us Research Program’s Genetic Counseling Resource and Co-Chair of the NLA Genetics Working Group. In addition, she is on the NLA Scientific Statements Committee and the American Heart Association’s Advocacy Coordinating Committee and Genomic and Precision Medicine Leadership Committee of the Council on Genomic and Precision Medicine.In this discussion with Kira Dineen, Amy Sturm, and Erynn Gordon will draw on their experiences to provide insights on:Historic and current uses of technology in genetic counsellingFuture applications of technology that can shape the practice of genetic counsellingThe role population genetics will play in precision medicineChallenges and barriers to mainstream integration of genetic counsellingThe themes covered in this Speaker Series session were inspired by the Laura Hercher 2020 paper, “Pondering the future of genetic counseling: An adolescent field comes of age”.As an amendment to the chatbots portions of the panel discussion, Amy Sturm would like to clarify that her collaborations with Clear Genetics began in 2017. During the discussion, she misspoke and stated that chatbots have been around since 2007.Stay tuned for the next new episode of DNA Today on November 19th where we learn about Prader-Willi Syndrome. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica’s cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that’s kgi.edu/dnatoday. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. (SPONSORED)For centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not-too-distant future. Journalist Keith McArthur explores the mysteries of aging in “Unlocking The Fountain” from CBC Podcasts, where you’ll meet dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old has already been born. Keith McArthur hosted “Unlocking Bryson’s Brain”, which we recommended last year, and now you can tune into his brand new podcast! We have already binged all the episodes released so far. Join us in listening to “Unlocking The Foundation” everywhere you get your podcasts. (SPONSORED)

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”.  This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools.As genetic testing becomes increasingly common, genetic counselors face increasing demand that they struggle to meet due to low numbers of genetic professionals in clinical care. Supplementing genetic counseling practice with digital tools is necessary in order to provide essential services while mitigating burnout, but genetic counselors and genetic departments face significant barriers to adoption. To help lessen these barriers, PhenoTips invited genetic counselors Scott Weissman, Amy Taylor and Andrew McCarty to share their experiences becoming digital champions, gathering departmental support, and the clinical impact their departments have experienced since adoption.Dr. Amy Taylor is the Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust. With over a decade of experience in Genetic Counseling, she heads a team of 14 Genetic Counsellors who provide high quality service to patients in the East Anglia region. Her specialist interests include cancer genetics, cardiac genetics and neurofibromatosis type 2, and for the last six years she has been a member of the UK Cancer Genetics Group Council. Amy’s articles have been published in prestigious journals such as Clinical Genetics and Journal of Medical Genetics.Andrew McCarty is a Laboratory Genetic Counselor at Perkin Elmer Genomics. He also operates a private practice based out of Pittsburgh called Clover Genetics working to improve access to genetic services. With a passion for providing genetic education to healthcare providers, students, and individuals seeking care, Andrew has authored numerous scholarly articles, including research on the use of the digital tool Proband in pedigree construction and assessment published in the Journal of Genetic Counseling.Scott Weissman, an NSGC Digital Ambassador, has over 15 years of experience in adult-onset genetic disorders and cancer genetics. He is the founder Chicago Genetic Consultants, LLC and the Cancer Services Lead at tele-genetics provider Genome Medical. Scott has worked with patient advocacy groups (FORCE, Bright Pink, CCARE) as well as lectured across the country on a variety of topics related to genetic counseling and testing. Scott’s scholarly articles have been published in prestigious journals such as Genetics in Medicine, Cancer, The Journal of the American Medical Association, Journal of Genetic Counseling, and many more.In this panel discussion moderated by DNA Today’s Founder, Producer and Host, Kira Dineen, CGC, Amy Taylor, Scott Weissman, and Andrew McCarty draw on personal experiences to provide insights on:The clinical impact of digital tools in genetic departments through examples from their years of practiceTheir journey of gathering departmental support for adoption of digital toolsThe techniques that allow genetic counselors and genetic departments to overcome challenges in digital tool adoption.Stay tuned for the next new episode of DNA Today on November 12th! This episode will be another insightful installment of the PhenoTips Speaker Series where we explore the future of genetic counseling with Amy Sturm and Erynn Gordon. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. More clinical studies for genetic conditions can be found at KnowRare.com. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. ThermoFisher Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica’s cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED)For centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not-too-distant future. Journalist Keith McArthur explores the mysteries of aging in “Unlocking The Fountain” from CBC Podcasts, where you’ll meet dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old has already been born. Keith McArthur hosted “Unlocking Bryson’s Brain”, which we recommended last year, and now you can tune into his brand new podcast! We have already binged all the episodes released so far. Join us in listening to “Unlocking The Foundation” everywhere you get your podcasts. (SPONSORED)

Joining us this episode is Dr. Sura Alwan, the Co-Director of TERIS, The Teratogen Information System, a clinical resource that assesses teratogenic risks of pregnancy exposures on the fetus. On This Episode We Discuss:Causes and prevention of birth defects Teratogens Impact of teratogenic exposure on fetal developmentMedications and vaccinations during pregnancyExposure to THC during pregnancyThe TERIS databaseCheck out TERIS, a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections, including 200 of the most frequently prescribed drugs. Use code “DNAToday” for your free no obligation 2-week evaluation license. To learn more, visit the TERIS website, or check them out on Twitter,Facebook, and LinkedIn, and be sure to navigate to their COVID-19 virus and vaccine summary for more information and Teratology studies. In addition to serving as the co-director of TERIS, Dr. Alwan holds professional positions at the University of Washington and the University of British Columbia.  Her background education is in Human Genetics where she received a BSc Honours degree from the University of Nottingham in the UK and an MSc in Medical Genetics from the University of Glasgow, UK. Dr. Alwan acquired her PhD in the area of birth defects epidemiology and teratology from the University of British Columbia in BC, Canada. Dr. Alwan’s research interests revolve around identifying exposures in pregnancy that may pose a risk to the developing fetus and contribute to causing birth defects and other adverse pregnancy outcomes.  Stay tuned for the next new episode of DNA Today on November 5, 2021, where we’ll feature an episode of the Phenotip’s Speaker Series about the adoption of digital tools in genetic counseling! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Picture Genetics is a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids (such as cystic fibrosis or fragile X syndrome). Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. (SPONSOR)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSOR)

We are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award. A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People’s Choice Award, so it truly is thanks to your support that we won. It’s been such a fun journey over the last 9 years hosting and producing DNA Today and it’s because of you listeners that we have amazing sponsors who keep the show running. Thank you all again! We have so many more episodes to bring you and we hope you keep tuning to learn more about genetics. In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka DenaDNA). Erika Stallings is an attorney, writer and BRCA awareness advocate. In June 204 she learned that she carried a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85% lifetime risk of developing breast cancer. In December 2014 she underwent a preventative double mastectomy which lowered her risk of breast cancer to less than 5%.Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. You can also hear her on episode 155 of DNA Today discussing genetic counseling grad school. On This Episode We Discuss:Black Cancer Genes Genetic testing for breast cancer Breast cancer risk among BRCA1/2 carriersRacial disparities in breast cancer diagnosisGenes prevalent in the black community Raising awareness about genetic counseling in the black community To learn more about Black Cancer Genes, visit their website. You can check out Erica’s work on Twitter and Instagram, and see what Dena is up to on Twitter, Facebook, LinkedIn, and Instagram.Stay tuned for the next new episode of DNA Today on October 29th, 2021 where I’ll be joined by Dr. Alwan of TERIS to discuss teratogens! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on October 28th followed by December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there!  (SPONSORED)Picture Genetics is a unique DNA testing service. Their Picture Wellness kit allows you to learn your genetic risks for cancer and cardiovascular conditions. Including the BRCA genes that we talk about throughout this episode. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your kit go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. (SPONSORED)The Illumina mission is to improve human health by unlocking the power of the genome. With Illumina’s sequencing-by-synthesis technology, they have only just begun to discover the true impact of genomics in areas including oncology, reproductive health, genetic disease, agriculture, microbiology, and beyond. Knowing the discoveries that lie ahead is what inspires Illumina to push the boundaries of their imagination and constantly drive innovation. To learn more, visit illumina.com. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. (SPONSORED)

In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon. Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer. Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company’s scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis. On This Episode We Discuss:Overview of ALSHow ALS is diagnosedCauses of ALSGenetic testing for pathogenic variants Expansion of the list of causative genes and variants for ALSUncovered trends in age at onset and rate of progressionNew data on the prevalence of gene mutations in ALSValidation of the novel utility of the genomic landscape for ALSTo learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, visit their website, or check them out on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on October 15th where we welcome Erika Stallings and Dena Goldberg to discuss the organization, Black Cancer Genes, in honor of breast cancer awareness month! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. See the show notes for terms and conditions and that link. Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)

The National Society of Genetic Counselors’ (NSGC) 40th annual conference occurred virtually this past week. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. You can also check out our recap episodes of 2020 and 2019. Guests Laura Hercher has been a genetic counselor for nearly two decades. She is also the host of fellow genetics podcast, The Beagle Has Landed. She is a faculty member and director of student research at the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, the country’s first and largest training program for genetic counselors. Hercher is a writer and commentator with publications including articles in Wired, Aeon and Scientific American as well as peer reviewed journals. She is a co-founder of the DNA Exchange, a blog for the genetic counseling community founded in 2009, which has grown to over 100,000 views in 2017.Sally Rodríguez is a licensed and board-certified genetic counselor who specializes in the area of reproductive genetics, with expertise in expanded carrier screening (ECS), noninvasive prenatal screening (NIPS), and preimplantation genetic testing (PGT). Sally was an early-stage employee at Recombine, a genetic testing laboratory focused on reproductive genetics, and developed and managed the lab’s ECS and NIPS offerings through the company’s acquisition by CooperSurgical. Currently, she serves as a genetic counselor at Sequence46, a PGT laboratory. She received her Bachelor's degree in Molecular Biology from Princeton University in 2009 and her Master's degree in Genetic Counseling from The Johns Hopkins University Bloomberg School of Public Health in 2013. Sally is an active member of NSGC, the American Society for Reproductive Medicine (ASRM), and the Minority Genetics Professionals Network (MGPN).NSGC 2021 Conference Session OD01: Advocating for Autonomy: Genetic Counselors as Champions for Comprehensive Reproductive Health with Laura Hercher Overview of Texas SB 8 (Abortion Ban) Texas SB 8 disproportionately affecting pregnant peopleRepercussions on genetic counseling from Texas SB 8National impact on Texas SB 8Jackson Women’s Health Organization vs DobbsIncrease in abortion laws vs public opinion Defining abortion reason bansTo learn more about abortion law from Laura Hercher, check out The Beagle Has Landed her podcast episode with Jordan Brown. NSGC 2021 Conference Session B03: The Devil is in the Details: Race-Based Medicine and Healthcare Disparities in Genetic Counseling with Sally RodríguezComparing race/ethnicity based vs panethic carrier screening How laboratories use ethnicity in carrier screening Pitfalls of race/ethnicity based testingIssue with self-reported race/ethnicitySelf-reported race vs genetic ancestry Calculate carrier residual risk of being a carrier based ethnicity Cause of disparities in residual risks Testing for genetic ancestry as part of carrier screening ACMG updated practice guidelines Downstream effects of disparities in carrier screening How healthcare providers can solve carrier screening disparity issues Other NSGC 2021 sessions mentioned during the episode:C02: Prenatal Testing: When Multiple Technologies Reveal More than Meets the Eye LabCorp sponsored with case presentations by Samantha Caldwell, Lila Dayani, and Deanna HutchinsonC03: 2021 Janus Lecture: “You Can Never Feel My Pain”: The History and the Future of Sickle Cell Disease. Presented by Barbara HarrisonD02: The Routine Incorporation of Molecular Ancestry into Carrier Screening: Sema4’s Clinical Experience. Presented by Lisa Edelmann and Audra Bettinelli Stay tuned for the next new episode of DNA Today this Friday on October 1st where we explore the genetics of ALS with Genomenon! New episodes are released on the first and third Friday of the month, with some bonus episodes like this one! In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED)If you’re a healthcare provider helping pregnant patients you have inevitably been asked the question, “Can I take this medication during my pregnancy”? Then you need TERIS, a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections, including 200 of the most frequently prescribed drugs. What makes TERIS a unique database? TERIS is governed by an Advisory Board of world-renowned experts in clinical teratology and is an intellectual property of the University of Washington. Visit TERIS today and use code “DNA Today for your free no obligation 2-week evaluation license. (SPONSORED)

Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month!Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list.On This Episode We Discuss:Patient advocacy DMD heredityFounding Cure Rare Disease Current and developing treatments for DMDIn-vitro versus in-vivo researchNeutralizing antibodies To learn more about Rich, DMD, and Cure Rare Disease at cureraredisease.org. If you live in Canada, check out Muscular Dystrophy Canada at muscle.ca, which serves 50,000 Canadians impacted by neuromuscular disorders themselves, family members/caregivers, healthcare professionals, and researchers. They support individuals impacted by neuromuscular disorders by investing in research, delivering critical programs and services, and challenging public policy.Genomenon is a genomic health IT company powering precision medicine with genomics. Genomenon has designed the Mastermind Genomic Search Engine, which is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results. Genomenon also created the Mastermind Genomic Landscapes to inform pharmaceutical and bio-pharma companies on precision medicine development and deliver genomic biomarkers for clinical trial target selection. Look out for our October 1st episode, the founder of Genomenon will be a guest on DNA Today to explore the genetics of ALS. Learn more about Genomenon at genomenon.com (SPONSORED).  If you enjoy DNA Today you will also love Eureka’s Sounds of Science, a podcast from Charles River. Sounds of Science tells the stories of how – how chicken eggs impact vaccine development; how a single parent can change the FDA; how a horseshoe crab saves lives. If you enjoyed our episode (#74) with Huntington Disease patient advocate Antonio Maltese, you should check him out in this episode of Eureka’s Sounds of Science podcast! Listen to Eureka’s Sounds of Science on Apple Podcasts, Spotify, or wherever you download your podcasts. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED)Stay tuned for the next new episode of DNA Today at the end of September where we’ll be recapping the NSGC Annual Conference! Follow Us On...Instagram: @DNAradio (https://www.instagram.com/dnaradio/)Twitter: @DNApodcast (https://twitter.com/DNApodcast)Facebook: @DNApodcast (https://www.facebook.com/DNApodcast/)Listen On…Spotify (https://spoti.fi/39hVSUD) Apple (https://podcasts.apple.com/us/podcast...) Google (https://podcasts.google.com/feed/aHR0...) DNApodcast.com *******DNA Today is a podcast and radio show exploring genetics’ impact on health through conversations with leaders in genetics like genetic counselors, researchers, doctors, and patient advocates. The show started in 2012 and features over 150 episodes. DNA Today won the 2020 Best Science and Medicine Podcast Award with nominate four other years. DNA Today is broadcast every Friday at 10:30am ET on WHUS 91.7 FM in Connecticut. New episodes are released on the first and third Friday of the month with some bonus episodes on other Fridays.

This episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes. Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that’s kgi.edu/dnatoday. Hosts:Kira Dineen, MS, LCGC, CG(ASCP)CM is a licensed certified prenatal genetic counselor at Maternal Fetal Care, PC in Connecticut. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 150 episodes interviewing experts in the field. “DNA Today” won the People’s Choice Podcast Awards for the Best 2020 Science and Medicine Podcast. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing genetic experts attended by over 700 genetic counselors around the globe. She writes a monthly blog series, “Explained By A Genetic Counsellor” for Sano Genetics. She received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. Stay tuned for another episode of DNA Today with Dena in October! Featured Panelist: Rachel Mills, MS, CGC, is a certified genetic counselor and Assistant Professor with the University of North Carolina Greensboro Genetic Counseling Program. She serves as the Research & Capstone Coordinator for the Program and supports students completing their Capstone projects. Prior to joining the UNCG faculty, she spent 10 years working as a research coordinator and project manager on studies exploring the utilization of genomics in healthcare. Much of her work focused on implementation of pharmacogenomics (how genes impact our response to medications).Janelle Villiers MS, CGC is the Admissions Director and Assistant Program Director for Sarah Lawrence College Human Genetics’ program. Prior to coming to Sarah Lawrence College, she worked in the clinical setting as a clinical supervisor at Jacobi Medical Center and later worked in a laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She is currently a volunteer site visitor for the Accreditation Council for Genetic Counseling (ACGC).Katie Lee, MS, CGC is a certified genetic counselor (CGC) with over five years of practice in reproductive medicine. She worked for one of the most well-known IVF clinics in the US and for a genetic testing laboratory that offers fertility related genetic testing. Katie Lee currently works with one of the largest sperm banks in the county. She has two YouTube channels, one about miscarriage and fertility and another about the genetic counseling career. FAQs Answered:If you are coming back to school after working for a while, any tips for a smooth transition? And is there a way you would organize your notes/information from class to make it easily accessible for rotations?How can you avoid burnout as a genetic counseling student? How to take care of your mental health in a hectic environment?Which rotations will students experience in the first year of the program? Are these exclusively shadowing opportunities or do students engage in the session? How is the transition from telehealth to in person counseling? How many students attend NSGC? Has this changed with COVID-19 now that the conference is offered through virtual route as well? What are your recommendations for students during the conference? What is the timeline for the thesis project? Can students bring their own ideas to develop? Are thesis projects done in groups or individually? What’s an example of an interesting thesis project? How often do students present their thesis poster at a conference?What classes are covered in the first year?Are there mentorship programs within grad school? Do these involve fellow students, faculty, supervisors, and/or patient advocates? Resources Mentioned:Dena DNA’s book club list on Amazon. You can find many of the authors of these books as guests on DNA Today in these episodes. Rachel Mill’s book recommendation of “Make It Stick: The Science of Successful Learning” By Peter C. BrownCheck out the “Genetic Counseling and the Future of Healthcare” on Clubhouse to participate in live genetic counseling conversations. Shoutout for The Genetic Counseling Virtual Career Fair on Sept 28th and Sept 29th. You will have the opportunity to find information about a career in genetic counseling from the National Society of Genetic Counselors and visit with over 50 masters level genetic counselor training programs in the United States and Canada. If you are a prospective student interested in genetic counseling and of minority background, we will also have a Minority Genetic Professionals Network room where you can talk to minority genetic counselors and students. Stay tuned for the next new episode of DNA Today on September 17th! New episodes are released on the first and third Friday of the month, with some bonus episodes here and there. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

You did it! DNA Today has been nominated for the Best 2021 Science and Medicine Podcast Award. If you nominated us, check your inbox to see if you were one of the people randomly selected to vote for the show! I was this year and received the email on August 9th. So pause the show now and check to see if you got the email. If you did please go ahead and vote for DNA Today, we need all the votes we can get to defend our title as the best Science and Medicine podcast! This week our host, Kira Dineen, is joined by Kenneth Kovan and Dr. David Berd of BioVaxys, a clinical-stage biopharma company developing antiviral and anticancer vaccine platforms using haptenized viral protein technology.Kenneth Kovan is the Founder, President, and COO of BioVaxys. He has over 30 years of experience in biopharmaceuticals commercial development. Mr. Kovan’s professional background includes several years in technology transfer with Thomas Jefferson University, Strategic Marketing with GlaxoSmithKline, and Global New Product Development with Wyeth-Ayerst Pharmaceuticals. His therapeutic experience includes infectious disease, antivirals, oncology, vaccines, cell/gene therapy, and gene editing. Mr. Kovan has a broad international business background, having launched pharma brands in Latin American and Asia/Pacific markets, and has worked in Europe for several years.David Berd, MD  is the Founder and Chief Medical Officer of BioVaxys. He is a medical oncologist with a lifelong record of clinical research in medical oncology and cancer immunotherapy. As National Director for Immunotherapy at Cancer Treatment Centers of America, Dr. Berd investigated the application of the AC vaccine to ovarian cancer. Previously, Dr. Berd was Professor of Medicine at Thomas Jefferson University, where for 20 years he conducted clinical research on melanoma immunotherapy. He also spent nine years as a research physician at Fox Chase Cancer Center. Over the course of his career, Dr. Berd has published more than 85 original papers in numerous medical journals alongside dozens of editorials, reviews and abstracts. He has ten issued patents dealing with cancer vaccines. Have you been vaccinated for COVID-19? Wouldn’t it be handy to have a digitized version of your vaccine record? States in the US are starting to do just this, with California leading the way. However privacy concerns have been raised about the personal information being kept in a central database. Genobank.io offers digitized vaccine records, without these privacy concerns. Genobank.io ultizes blockchain networks to keep track of your vaccine record without exposing your personal data!On This Episode We Discuss:How the immune system fights cancer Haptenized vaccines and how they workSafety of haptenized vaccines COVID-19 vaccines Anticancer and antiviral vaccines Vaccinations for COVID-19 variantsTo learn more about BioVaxys, visit their website or check them out on Twitter and LinkedIn. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Fall 2021 cohort, and a limited number of spots are still available. Stay tuned for the next new episode of DNA Today on September 3, 2021, where I’ll be joined by Dena Goldberg to share advice for starting graduate school for genetic counseling! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you want to influence change in the genomics market? Lucky for you a new position just opened at Agilent where you can have an impact as a Genomic Software Field Applications Scientist. In this west coast remote-based role you will provide technical consultation, training, and education to enable customers to perform data analysis in clinical laboratory environments. You will partner with sales to serve as the scientific/technical specialist to help drive sales and provide support for customers in diverse clinical settings. Learn more about the position here. Join our host, Kira Dineen, next week on Clubhouse. Dena Goldberg (aka Dena DNA) will be interviewing her about how to prepare and what to expect in grad school for genetic counseling. This is on Thursday August 26th at 4pmPT (7pmET). Dena and Kira will be answering your questions about grad school live! You can tune in by searching for the “Genetic Counseling & The Future of Healthcare” club in the clubhouse app. 

Did you know genetic changes account for an estimated 10-15% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics just released Picture PD Aware, an at-home DNA kit that tests for changes in seven genes associated with Parkinson’s disease. Picture PD Aware is easy to order and understand with good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit over at picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. Joining our host, Kira Dineen, this week Dr. Dayan Goodenowe. He is the Founder, President, and CEO of Prodrome Sciences Inc., and the Author of Breaking Alzheimer's: A 15-Year Crusade to Expose the Cause and Deliver the Cure, a novel about biomarkers of dementia and Alzheimer’s disease, and the science and clinical applications of plasmalogens for the therapeutic treatment of Alzheimer’s disease. Dr. Goodenowe’s primary professional interest is the advancement of precision preventative medicine into mainstream medical practice. The achievement of this goal involves the integration and translation of various scientific and technological fields such as basic biochemistry, biomarker discovery, diagnostic technology, biostatistics, clinical trial design and execution, targeted therapeutic development, epidemiology, and healthcare economics. The prevention and treatment of neurodegenerative diseases is his primary focus. As the founder and CEO of Prodrome Sciences Inc., his primary responsibility is to build a next-generation team of dedicated researchers and other professionals and to work with and continue to grow his team such that Prodrome Sciences Inc. can reach its ultimate goal of saving lives and improving quality of life by implementing our targeted strategy of disease prevention through prodrome detection and treatment. On This Episode We Discuss:Dementia vs Alzhiemer’s diseaseAPOE gene’s role in Alzheimer’s diseaseMethods to counteract APOE statusCorrelation between plasmalogens and dementiaPlasmalogen’s blood vs brain levelsProdromeNeuro for Alzheimer’s Disease and Parkinson’s DiseaseHow do you keep research articles organized? We have struggled with this for years, but have finally found a solution that is simple and easy. It’s called Paperpile! It radically simplifies the workflow of collecting, managing and writing papers. Paperpile allows you to highlight and annotate papers, manage references, share and collaborate and even cite directly in Google Docs and Microsoft Word. Paperpile’s new mobile apps allows you to sync your library to all your devices so you can read and annotate on your iPad, iPhone, or Android device. Start your free 30 day trial today at paperpile.com with promo code “DNATODAY”. Paperpile costs only $36 per year, but with code “DNATODAY” you save 20%!  Enter to win one of 10 copies of Dr. Goodenowe’s book, Breaking Alzheimer’s, in our social media giveaway. Visit our Twitter, Instagram, Facebook, and our host’s LinkedIn to enter. Stay tuned for the next new episode of DNA Today on August 20, 2021 with BioVaxys discussing hapentized vaccines! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Intrigued about genetics? Of course you are, you listen to this podcast! Which is why I think you will be interested in an upcoming webinar on August 11th. In this 3 hour virtual workshop a wide variety of genetic counseling topics will be explored including prenatal genetic counseling (presented by me, Kira Dineen), precision medicine, overview of common genetic conditions, and more! Join us in this collaborative worldwide workshop next week on August 11th! Register here! 

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in theScience & Medicine CategoryIf you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st. The show has been nominated four years, including our win last year. This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to go nominate DNA Today in the Science & Medicine Category. If you nominate us and share it on social media, tag us and we will repost it. AND we will give you a shoutout on the podcast/radio show. Thank you to all our listeners who have supported us for years and to all the new listeners who have recently tuned in. We look forward to many more years of genetics podcasting ahead of us! Getting nominated in the Podcast Awards helps us grow and find new sponsors so we can continue bringing you more interviews with leaders in genetics. 

It’s time to defend our title as the Best 2020 Science and Medicine Podcast! The Podcast Awards Nominations are open! So we need you listeners to get DNA Today nominated at podcastawards.com. We were against very popular podcasts last year, and because of your support we won. To win again, we need all of you to nominate DNA Today in the Science & Medicine category at podcastawards.com by July 31st. If you share your nomination on social media and tag us, we will repost it and give you a shoutout on show! Thank you so much for all your support, let’s win this together! Joining our host, Kira Dineen, this week is Janice L. Berliner. She is the Director of the Master of Science in Genetic Counseling Program at Bay Path University and the Author of Brooke's Promise, a novel that follows a family through their journey and struggles as their love is pushed to the test while learning to live with their daughter’s disease.Janice has been a genetic counselor for more than 29 years, having earned her MS in Human Genetics/Genetic Counseling from the University of Michigan becoming board-certified in 1993. She has served on the boards of directors of the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counseling (ABGC), and chaired the 2008 NSGC Annual Education Conference. She has also had the opportunity to be part of the hands-on training of a sizable number of genetic counseling graduate students, has served as the Editor-in-Chief of the NSGC quarterly newsletter, on the editorial board of the Journal of Genetic Counseling, and several committees of the NSGC and AGCPD (Association of Genetic Counseling Program Directors). Her second genetics novel is in the works. Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “The DNA Guide for Adoptees” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear Brianne share her insight from her book in episode 103 of DNA Today! Learn more at WatershedDNA.com where you can also book your consultation today with Brianne. On This Episode We Discuss:The inspiration behind Brooke’s PromiseFertility genetic counselors Failure to thrive in newborns Pompe disease Interpreting carrier screening results Resources for parents of babies with genetic disordersPreparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Want to read Brooke’s Promise? Enter our giveaway to win your own copy! Head over to our Twitter, Instagram, and Facebook accounts to enter our giveaway to win one of five free copies. To learn more about Janice and Brooke’s Promise, visit her ​​website, or check her out on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on August 6th, 2021 with Dr. Dayan Goodenowe about the genetics of dementia! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. The practice of genomic counselling and variant interpretation is advancing at an incredible pace. The University of British Columbia offers an online, flexible graduate certificate for genetic professionals who want to keep up. You will learn to apply the latest methods in clinical bioinformatics, variant interpretation, and genomic counselling. It’s an ideal way to earn CEUs while enhancing your genetic counselling practice. Learn more and register on their website.

COVID-19 variant genotyping is explored with the Director of the UC Davis Genome Center and Healthy Davis Together project.

This marks the 150th episode of DNA Today! Our guests to celebrate this landmark episode of DNA Today are Dr. Euan Ashley, a medical geneticist and cardiologist. And Dr. Stephen Quake, a physics professor, bioengineer and pioneer in microfluidics. A Scotland native, Dr. Euan Ashley graduated with degrees in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, and became one of the most cited articles in clinical medicine that year. The team extended the approach in 2011 to a family of four and now routinely applies genome sequencing to the diagnosis of patients at Stanford hospital where Dr. Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2014, Dr Ashley became co-chair of the steering committee of the NIH Undiagnosed Diseases Network. Stephen Quake is a professor of bioengineering and applied physics at Stanford University and is co-President of the Chan Zuckerberg Biohub. He holds a B.S. in Physics and M.S. in Mathematics from Stanford University and a doctorate in Theoretical Physics from the University of Oxford. Dr. Quake has invented many measurement tools for biology, including new DNA sequencing technologies that have enabled rapid analysis of the human genome and microfluidic automation that allows scientists to efficiently isolate individual cells and decipher their genetic code. Dr. Quake is also well known for inventing new diagnostic tools, including the first non-invasive prenatal test for Down syndrome and other aneuploidies. His test is rapidly replacing risky invasive approaches such as amniocentesis, and millions of women each year now benefit from this approach. He was also the fifth person in the world to have their genome sequences and his genome was the subject of clinical annotation by a large team at Stanford Hospital led by Dr. Ashley. On This Episode We Discuss:The first clinical interpretation of a human genomeGenome sequencing technologiesThe cost of sequencing a genome Understanding the genomic codeThe future of precision medicineDr. Ashley’s book, The Genome OdysseyWant to read the Genome Odyssey? Enter to win your own copy! Head over to our Twitter, Instagram, Facebook, and LinkedIn to enter to win a free book!Be sure to follow Dr. Ashley and Dr. Quake on Twitter! How do you keep research articles organized? We have struggled with this for years, but have finally found a solution that is simple and easy. It’s called Paperpile! It radically simplifies the workflow of collecting, managing and writing papers. Paperpile allows you to highlight and annotate papers, manage references, share and collaborate and even cite directly in Google Docs and Microsoft Word. Paperpile’s new mobile apps allows you to sync your library to all your devices so you can read and annotate on your iPad, iPhone, or Android device. Start your free 30 day trial today at paperpile.com with promo code “DNATODAY”. Paperpile costs only $36 per year, but with code “DNATODAY” you save 20%!  Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. Stay tuned for the next new episode of DNA Today on July 2nd, 2021! We’ll be joined by Dr. Richard Michelmore and Dr. Brad Pollock who will be discussing COVID-19 variants. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Sponsoring this cystic fibrosis series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.On the third and final episode of our cystic fibrosis podcast series, our host Kira Dineen is joined by Gunnar Esiason who shares about his experience as a patient with CF. Gunnar is a cystic fibrosis and rare disease patient leader, who is passionate about early stage drug development, patient empowerment and health policy. He is a second-year MBA student at the Tuck School of Business at Dartmouth. He is also working towards a Master of Public Health degree at the Dartmouth Institute for Health Policy and Clinical Practice. His first year course work included a First-Year Project with a health insurance start-up. Prior to Tuck, Gunnar received a BA form Boston College in 2013, worked on an enteral feeding product at a medical nutrition company, and was appointed to the board of directors at the Boomer Esiason Foundation. Gunnar maintains the roles of patient advocate and director of patient outreach at the Boomer Esiason Foundation, named after his NFL quarterback father. He has consulted on clinical trial development, a real world evidence population health study, and a cystic fibrosis-specific mental health and wellness screening tool. On This Episode We Discuss:Gunnar’s diagnosis and journey with CFThe anatomy of a CF care teamCF awareness and treatments around the world Balancing CF with school, work, and relationships How COVID-19 had affected CF patients Connecting and interacting with people in the CF community You can learn more about Gunnar and his story on his website and check out this article reflecting back on Gunnar and Boomer Esiason’s Sports Illustrated cover. Be sure to follow Gunnar on Twitter, Facebook, LinkedIn, and Instagram. Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy!Stay tuned for the 150th DNA Today on June 18th! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

Get a shoutout on the podcast by nominating DNA Today for the Quill Podcast Awards for the “Best Health Podcast”. Share your nomination on social media and tag us. In return, we will thank you personally on the show, you can also comment on our posts on Twitter, Facebook, LinkedIn and Instagram. Nominate in this form! Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.To continue our cystic fibrosis podcast series, Dr. Shuling Guo joins our host Kira Dineen, to discuss drug discovery efforts in cystic fibrosis. She is the VP of Antisense Drug Discovery at Ionis Pharmaceuticals – the leader in RNA-targeted drug discovery and development. Shuling is an Ionis veteran of over a dozen years (first and only industry job).  Shuling received her Ph.D. in Molecular Cancer Biology from Duke University and had her postdoctoral training at HHMI/UCLA. At Ionis, Dr. Guo oversees drug discovery efforts in hematological, metabolic, ocular, pulmonary and renal disease areas as well as research efforts in noncoding RNA field; managing activities from target identification and target validation to the selection of human development candidate. In addition, she is involved in clinical development of antisense therapies. Her achievements include leading the research efforts for transthyretin (familial amyloid polyneuropathy, completed phase 3 clinical trial & under NDA), TMPRSS6 (beta-thalassemia and hereditary hemochromatosis, phase 1 clinical trial), and ENaC (cystic fibrosis, preclinical development). Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. It kicks off on June 2nd! Register today on Sarah Lawrence’s website to level up your resume for applications in the fall. On This Episode We Discuss:Defining cystic fibrosis (CF)How CFTR protein functions in the lung, difference in lung of CF patientsCurrent drugs on the market for CFResearch and development on a drug through Ionis Antisense medicine and how it works in the body Other respiratory diseases that could benefit from this treatment The timeline for FDA-approval and commercial availability of this drugFor more information about Ionis’ new cystic fibrosis drug development (IONIS-ENAC-2.5Rx), check out their press release here. You can learn more about Ionis on their website and follow Dr. Shuling Guo on LinkedIn.  Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy!Stay tuned for the next new episode of DNA Today on June 4th, 2021! We will be joined by Gunnar Esiason, patient advocate, for the third and final episode of our CF series! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development. Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To kick off this series our host Kira Dineen is joined by Bijal P. Trivedi, an award-winning journalist specializing in longform narrative features about biology, medicine, and health. She is the Senior Science Editor at National Geographic. Trivedi has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Bill Gates reviewed Breath from Salt on his blog and recommended it as one of the top five books for 2020. The book was also on the Longlist for the 2021 PEN/E.O. Wilson Literary Science Writing Award.​Trivedi’s writing has been featured in The Best American Science and Nature Writing 2012, National Geographic, Scientific American, Wired, Science, Nature, The Economist, Discover, and New Scientist. Her work has taken her from the Mexico-Guatemala border where she covered the use of genetically modified mosquitoes for fighting the dengue virus to the behind the scenes at Massachusetts General Hospital where she watched trauma surgeons test hypothermia to save pigs with life-threatening injuries to Moscow’s Star City where she blasted off with space tourism entrepreneurs on the “Vomit Comet” for astronaut training. She also edited the NIH Director’s Blog and, prior to that, helped launch the National Geographic News Service in partnership with the New York Times Syndicate, which she wrote for and edited. Her undergraduate fascination with biochemistry and molecular biology at Oberlin College compelled her to pursue a master’s degree in molecular/ cell/developmental biology at UCLA. Her love of writing drew her to journalism rather than to a lab bench—and to a second master’s degree in science journalism from New York University.​Trivedi has focused on long-form feature stories on complex scientific topics from genetic testing and art authentication to the carbon footprint of our diet and genetically modified mosquitoes. Her New Scientist story “Slimming for Slackers” won the 2006 Wistar Institute Science Journalism Award. “Life on Hold,” also written for New Scientist, won the 2005-2006 Michael E. DeBakey Journalism Award. “The Rembrandt Code,” published in Wired, was tagged “Outstanding story on any subject: Print” by the South Asian Journalists Association. Trivedi co-authored “A Guide To Your Genome” that won the 2009 National Institutes of Health “Gold” Plain Language Award. Most recently, her feature “The Wipeout Gene” was selected for The Best American Science and Nature Writing: 2012. Trivedi taught in New York University’s graduate Science, Health and Environmental Reporting Program from 2007-2012.On This Episode We Discuss:Overview of cystic fibrosisMajor cystic fibrosis medical advances and “firsts in medicine”Revolutionary techniques utilized to find the cystic fibrosis gene, CFTROriginal gene therapy trials obstacles Two types of CFTR genetic mutations and the effects on the proteinGenetic registry to speed up clinical trials Drug research and development to treat cystic fibrosisVenture philanthropy to innovatively fund pharmaceutical research and development  Want to read Breath From Salt? Enter our giveaway to win your own copy! Head over to our Twitter, Instagram, and Facebook. Stay tuned for the next installment of DNA Today’s Cystic Fibrosis Podcast Series on May 21st! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also produced with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements. Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway… Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th (at DNApodcast.com under the “Resources” tab) in anticipation for DNA Today on April 25th. Join our celebrations on social media using #CTDNADay! DNA Day Podcast Recommendation: Stream Episode 46 of DNA Today that celebrates DNA Day including the history of the day, activities, and careers in genetics. Our guest on this episode is Jo Bhakdi, the founder and CEO of Quantgene. His work in machine learning, sequencing technology, and DNA extraction procedures defines the cutting edge of genomic diagnostics, early disease detection, and precision medicine.Prior to Quantgene, Jo founded i2X, an investment framework that composes low-risk Venture Capital portfolios across large numbers of technology startups. The i2X platform laid important foundations for advanced analytics in both financial and biotechnology applications, such as the Quantgene machine learning platform.Bhakdi holds a Masters in Economics and Psychology from Tubingen University, one of Germany’s leading academic institutions, with a focus on financial theory and statistics. He kicked off his career at WPP and Omnicom, where he held Strategy and Executive Director positions.On This Episode We Discuss:Overview of whole exome sequencing (WES)Technology for WESWhole exome sequencing (WES) vs whole genome sequencing (WGS) vs gene panelsWhen to order WESDisorders diagnosed through WESTurn around time for WES resultsUS insurance coverage and cost of WESLimitations of WESFuture of WES, possibly replacing newborn screening or whole genome sequencing Learn more about whole exome sequencing here. You can check out Quantgene through their website. Stay tuned for the next new episode of DNA Today on May 7th, which launches our Cystic Fibrosis Series in honor of May being the awareness month. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

Greenwood Genetics Center’s Ray Louie and Kellie Walden join the show to discuss epigenetics. Dr. Ray Louie is an Assistant Director in Greenwood’s Molecular Diagnostic Laboratory. His background is in large scale genetic screening in model organisms and in solid tumor genetics and radiobiology. Dr. Louie is interested in the diagnosis of Mendelian disorders and in the identification of novel genes involved in neurodevelopmental delay and hydrops fetalis.Kellie Walden is Greenwood’s Director of Diagnostic Development and a genetic counselor by training. She oversees areas of growth for the labs including new test offerings and industry contracts. She also continues to be involved in marketing activities for the Diagnostic Lab. Kellie is a member of the National Society of Genetic Counselors.EpiSign is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for recognized genetic conditions. Right now, EpiSign tests for over 40 conditions that have signatures. Version 3 will be launching in the spring with even more conditions! This test was developed by London Health Sciences Centre in Ontario, and our lab at the Greenwood Genetic Center performs the bench work and the data is analyzed by the team in Canada. The National Human Genome Research Institute named EpiSign one of the 10 most significant advances in genomic medicine in 2019!On This Episode We Discuss:Defining epigeneticsEpigenetic disorders (Prader–Willi, Angelman, Beckwith-Wiedemann syndrome)Testing for epigenetic conditions through EpiSignIndications to order epigenetic testingVariant of Uncertain Significance (VUS) clarification with EpiSignCurrent research on epigenetic conditions New versions of EpiSignCalculating biological age with epigenetics Learn more about Greenwood Genetic Center’s EpiSign here. You can also check out their incredibly popular genetic counseling visual aids. Enter our giveaway on Instagram, Twitter, Facebook, and LinkedIn to win a pair of bluetooth, noise canceling headphones from Greenwood. Giveaway ends on April 11th.  Ray and Kellie showcased how complex pediatric genetics can be, so it’s understandable that people are often confused about the role genetics play in health conditions. The genetic counselors over at Advanced Tele-Genetic Counseling (ATGC) specialize in areas of genetics like pediatrics. So if you find yourself having questions about your own genetics, or want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach at AT-GC.com. You can also hear Elizabeth Turner on Episode #143 where she shares more about telehealth and what ATGC has to offer. Stay tuned for the next episode of DNA Today on April 16th, which explores whole exome sequencing with QuantGene’s Jo Bhakdi! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

This episode of DNA Today continues our mini series about telehealth in genetics. Last episode we heard from the founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, who shared her expertise in telehealth. Her company provides a scalable telehealth platform for genetic counseling services, where genetic counselors can help patients navigate through areas of genetics like genetic testing, and ultimately understand their own genetics. So if you want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach out through their website at at-gc.com, again that’s at-gc.com. In part two of our telehealth series, Orion Buske, PhD, joins host Kira Dineen to discuss genomic digital tools. Dr. Buske strives to empower patients, doctors, and researchers through new tools and technologies. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. At various times, he led the technical developments of: PhenomeCentral, the Matchmaker Exchange, PatientKind, and RareConnect. On This Episode We Discuss:Inspiration to start PhenoTipsGenomic Health RecordsBenefits of Digital Tools for patients and providersDigital vs paper pedigreesAuto pedigree builderSpeeding up the diagnostic odyssey Future of genomic digital toolsHear more from PhenoTips and our host Kira Dineen through the PhenoTips Speaker Series. This a monthly live webinar where Kira interviews genetic experts about topics and skills specifically for genetic healthcare providers. All previous installments have been recorded and are available on demand here.  Stay tuned for the next new episode of DNA Today on April 2nd! We will be joined by Greenwood Genetic Center to discuss epigenetics including their unique genetic test, EpiSign. Don’t miss their bluetooth, noise cancelling headphones giveaway on our Instagram, Twitter, Facebook, and LinkedIn. New episodes are released on the first and third Friday of the month (with some bonus episodes like this one!). In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

To kick off our mini series in telehealth genetics fellow genetic counselor, Elizabeth Turner joins our host Kira Dineen. Elizabeth is the cofounder and Chief Executive Officer of Advanced Tele-Genetic Counseling (AT-GC). Elizabeth’s team, one of the first tele-genetic companies to enter the industry, provides comprehensive genetic counseling services via telemedicine. Elizabeth has practiced in the areas of oncology, pediatrics, reproductive health, and general genetics, and holds a current certification from the American Board of Genetic Counseling.Did you know most people are visual learners? That’s why visual aids are critical during genetic counseling appointments. As we explore in this show, genetic concepts can be really complex to understand, which is why the Greenwood Genetic Center created genetic counseling aids. And now their 7th edition is available, including an app for iPads. In telehealth appointments it can be incredibly helpful to share your screen with these visual aids from Greenwood, so download this vital tool for your daily practice here! We receive a lot of emails from listeners interested in genetic careers and we love connecting and providing resources. One of those is Keck Graduate Institute’s genetics programs in Southern California. KGI offers a master’s degree in genetic counseling, and a first-of-its-kind graduate program in genomic data analytics. This two-year master’s program gives students the opportunity to work side-by-side with applied life scientists and future genetic counselors while gaining hands-on experience with the technologies and information that are revolutionizing the future of medicine. Learn more about KGI’s programs by visiting kgi.edu/dnatoday.On This Episode We Discuss:Motivation to start AT-GCInitial hurdles to telehealthCOVID-19’s impact on telehealthTelehealth affecting disparities in genetics Languages AT-GC offer for sessions Specialties in genetic counseling AT-GC provides Scenarios where telehealth is preferable to in person Coordinating samples for genetic testingGenetic counseling telehealth internships and rotations Future of telehealth Learn more about Elizabeth Turner and her company, Advanced Tele-Genetic Counseling (AT-GC) on their website.   Stay tuned for the next new episode of DNA Today dropping next Friday (March 26th)! This will continues our mini series in telehealth genetics. The CEO of PhenoTips, Dr. Orion Buske, will be sharing his expertise on digital tools in genetic counseling. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video so you can watch the show on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

Dr. Barbara Fortini joins our host Kira Dineen, to discuss the growing career opportunities in Genomic Data Analytics. She is the Program Director for the Master of Science in Human Genetics and Genomic Data Analytics program at the Keck Graduate Institute. She also teaches their genetic counseling students. Her research interests focus on colorectal cancer, the third most common cancer in the US. Genome-wide association studies have now identified dozens of common genomic variants linked to small increases in colorectal cancer risk. Her research group seeks to identify the functional variants responsible for the increased cancer risk at GWAS-identified loci and to understand the role of these variants in cancer etiology. Previous work has shown that many functional variants lie in gene enhancer elements, leading to allele-specific gene expression of both known cancer-associated genes and novel genes. By comprehensively characterizing risk loci, her team hopes to identify additional novel genes involved in colorectal cancer and better understand the role of enhancers in gene expression in healthy and cancer cells. On This Episode We Discuss:Career paths in genetics outside of genetic counselingDefining big data in a genetic contextArea of research impacted by data analyticsCareer opportunities in the healthcare industryChallenges in labs and pharma companies addressed by genomic data analyticsGenome wide association studies (GWAS)Colorectal cancer research via GWASGenomic data analytics vs bioinformatics master’s degrees In-demand skills for data analystsPre-requisites to apply to master’s programs, epscally KGI  Advice for students applying to programs Content and skills taught in the data analytics program Employers of alumni of the data analytics program  Check out the article we mention in the episode about what you can do with a degree in data analytics. Here you can find further information about KGI’s genomic data analytics program.  Stay tuned for the next new episode of DNA Today on March 19th, 2021! We will be joined by another one of our sponsors, ATGC, to kick off our telehealth series. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded in video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Biotech titan Dr. Stan Crooke joins host Kira Dineen to celebrate rare disease month! Dr. Crooke was the Founder of IONIS Pharmaceuticals, with extensive experience in the pharmaceutical industry developing more than 20 marketed drugs. He has published nearly 500 scientific publications, edited more than 20 books, and has numerous patents. Dr. Stan Crooke is now the Founder and CEO of n-Lorem Foundation, a new San Diego-based organization with an incredible mission of developing individualized RNA targeted medicines for patients with ultra-rare diseases, and providing those treatments for free, for life. These patients have extremely unique mutations and are often only one of 30 people in the entire world to have the disease. After only one year as a foundation, they’ve already made great progress for the ultra rare community, having received 50 applications from patients with ultra rare genetic mutations. Out of those 50, they have greenlighted treatment plans for nearly 20 patients - greatly exceeding application and acceptance rate expectations. On This Episode We Discuss:Rare diseases vs ultra rare diseasesChallenges treating patients with ultra rare diseases and genetic mutationsStandard process and cost of drug developmentn-Lorem’s new approach to drug development for ultra rare diseases Antisense therapies (ASOs)n-Lorem’s charitable and scalable model n-Lorem’s relationship with IONIS PharmaceuticalsPeople eligible for n-Lorem’s treatmentsHow to contact n-Lorem’s for potential treatment Drugs currently in development at n-LoremInsight on the development of SPINRAZA® for spinal muscular atrophy Learn more about n-Lorem on their website. Check out the UConn Podcast Symposium, our host Kira Dineen will be on the interdisciplinary panel taking place on February 22nd at 4PM EST. You can register to attend for free here. UConn students will be provided a Zoom link to engage in a live Q&A. The panel will also be streamed publicly via Facebook and YouTube.Stay tuned for the next new episode of DNA Today on March 5th, 2021! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

To kick off rare disease month, author Patti M. Hall joins host Kira Dineen to discuss her memoir Loving Large which chronicles her son’s rare disease diagnostic odyssey. Her life was pitched into an abyss of uncertainty when a golf ball–sized tumour was discovered in her teenage son’s head and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti’s attention shifted fully to her son, away from her relationships as well as her own career and health. Her new normal sees her step into a dozen additional roles, including nurse, researcher, advocate, risk assessor, and promise maker, while she struggles and fails to rebuild her life as a recently divorced woman. When the unthinkable strikes, parents Love LARGE. Now, Patti serves as an advocate for the rare disease community by serving as a member of the Board of Directors for AcromegalyCanada. Enter our giveaway here to win your own copy of Loving Large! For additional entries head over to our Instagram post. This episode is brought to you by Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids (such as cystic fibrosis or fragile X syndrome). Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On This Episode We Discuss:Diagnostic Odyssey “From sore knees to a brain tumor”Symptoms of gigantism Gigantism vs AcromegalyJoining the rare disease communityMother son relationship through diagnosis and treatmentsFiltering medical information for rare disease kidsImpact of a rare disease on siblingsGenetic research for gigantism Sequel to Loving Large Learn more about Patti Hall on her website and stay updated with her writing and advocacy on her Instagram. Her podcast, “Reframe your Life” addresses issues relevant to women beyond career building and child-rearing. Don’t forget to enter our giveaway for a copy of Loving Large here. You can also get extra entries through our Instagram! Continue our rare disease month celebrations with the next new episode of DNA Today on February 19th! You can also hear 20+ rare disease interviews on previous episodes of the show listed here. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

Enter the our “Inheritance” book giveaway on our Instagram, Twitter, and Facebook.Author Dani Shapiro joins host Kira Dineen to discuss her instant New York Times best selling memoir, Inheritance, which is being adapted into a film. Her other books include the memoirs Hourglass, Still Writing, Devotion, and Slow Motion, and five novels including Black & White and Family History. She teaches writing workshops around the world, including Columbia, New York University, and the Sirenland Writers Conference in Italy.Dani is a fellow podcaster in collaboration with iHeartMedia to host Family Secrets. An Apple Top 10 podcast, the series features stories from guests who—like Dani— have uncovered life-altering and long-hidden secrets from their families’ past. Her show is also being adapted to the screen! She lives with her family in Litchfield County, Connecticut.On This Episode We Discuss:Premise of her memoir Inheritance Understanding DTC (Ancestry/23andMe) test results using GEDmatchFirst reaction to finding out her father was not her biological fatherDiscussing non paternity with family and friendsTools and methods to track down her biological fatherApproach to contacting her biological father Egg/sperm donation in the 1960sAltering family health history Advice for those considering DTC testing Don’t forget to enter the book giveaway for a copy of Inheritance! Further details on our Instagram, Twitter, and Facebook.Check out Dani’s iHeartMedia podcast, “Family Secrets”. You can learn more about Dani Shapiro on her website and keep up with her through her Instagram.  Stay tuned for the next new episode of DNA Today on February 5th! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 140 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

To kick off 2021, we have a big announcement! All episodes of the show will now be recorded in video as well as audio. You can watch this episode on our YouTube channel here or search “DNA Today Podcast”. In this episode three genetic counselors share their experience and advice taking the American Genetic Counseling Board exam. Boards Topics Discussed: Structuring material with a study planAreas to focus on including Prenatal, Metabolic, Cancer, Neuro, Cardiac, Quant, and Psych Taking the exam in February vs August Studying while working vs before working Boards Course overall, price, and CEUsResources including “A Guide to Genetic Counseling”, NSGC Practice Guidelines, Top 100 Genetic Diseases, and moreStudy groups including social media (Feb Boards 2021)Study TipsWhen studying the inheritance pattern, think which are on carrier screening to figure out if it’s autosomal recessive Look for the unique findings for less common conditionsLook at difference between types of conditions or similar conditionsInsight on practice exam Perspective on retaking the exam (You are not alone!)The PanelAlly Abbott is an American Board certified Pediatric Genetic Counselor at Phoenix Children’s Hospital. She earned her Bachelor of Arts in Psychology and a minor in Biology from Loyola Marymount University in Los Angeles, CA in 2017. In undergrad, she took a seat as a senator in student government and focused on educating the campus about mental health and the stigma surrounding mental health disorders. She later founded Active Minds at LMU, a club devoted to this purpose. Ally has always loved working with kids and found a passion for children with genetic conditions while working at The Painted Turtle, a nonprofit, free-of-charge, camp for children with serious medical conditions such as skeletal dysplasia, hemophilia, metabolic disorders, and muscular dystrophy. After graduation, she moved to New York and worked in a preschool before earning her Master of Science in Human Genetics from Sarah Lawrence College in Bronxville, NY in 2020. Ally is a Phoenix native and is happy to be back in valley at PCH, where she spent her Sundays in high school volunteering. In her spare time, she likes cozying up with her cat and a good podcast as well as spending time with her family. You can keep up with Ally on her instagram. Dani Kupperman is an American Board certified Cancer Genetic Counselor at Danbury Hospital. She earned her Bachelor of Science in Health Behavior Science and a minor in Business Administration from the University of Delaware in Newark, DE in 2016. During her undergraduate studies, she interned at the Helen F. Graham Cancer Center genetic counseling clinic where she discovered her love of cancer genetics. Dani pursued her Master of Science in Genetic Counseling at Long Island University-Post in Brookville, NY in 2018. In her current role, Dani has enjoyed the pleasure of meeting with patients to help guide them through their decision making process as to whether to pursue genetic testing. She has also expanded her role to include student supervision, research, community education, participation in the hospital’s ethics committee, and is currently starting a Patient and Family Advisory committee to improve patient experience. In her spare time, she enjoys spending time with her family, attending live concerts, and binge watching the television show, “Friends”. Kira Dineen, MS, LCGC, CG(ASCP)CM is a certified prenatal genetic counselor at Maternal Fetal Care, PC in Stamford, CT. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 130 episodes interviewing experts in the field. “DNA Today” recently won the People’s Choice Podcast Awards for the Best 2020 Science and Medicine Podcast. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing genetic experts attended by over 700 genetic counselors around the globe. She writes a monthly blog series, “Explained By A Genetic Counsellor” for Sano Genetics. Kira was selected and currently serves as a member of the National Society of Genetic Counselors’ Digital Ambassador program (#NSGCGenePool). She received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. You can keep up with Kira on Twitter.  For more Genetic Counseling Boards insider info, listen to Episode 126 with Adam Buchanan. He was the President of the American Board of Genetic Counseling in 2020 and shared his insight and advice on the Boards exam including taking the exam in the online format. Stay tuned for the next new episode of DNA Today on January 15th, 2021! New episodes are released on the first and third Friday of the month. In the meantime, you can binge 137 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook, YouTube (now with video podcasts!) and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

This episode we are exploring medical interpreting in genetic counseling and other areas of healthcare. Joining me are Genetic Counselor Nina Harkavy and Interpreter Lorraine Way. Nina is a prenatal genetic counselor at Columbia University. She graduated from the John Hopkins University/ NHGRI genetic counseling training program. Lorraine is a Spanish Instructor, medical interpreter and the President of Language Way, a language service company. She has a master’s in French from Middlebury College where she also studied Spanish. On This Episode We Discuss:Improved counseling experience speaking in SpanishDifference between translation and interpretation How healthcare providers can alter their communication with non-native English speakersTips for working with interpretersStandard for interpretation especially with family membersMaintaining cultural sensitivity when belief systems may impede the decision-making processConcepts that are challenging to interpret into Spanish and ways to phrase differentlyApproaches to check in with patients about their understandingMiscommunications between healthcare providers and interpreters Handling an interpreter who is not accurately interpreting Training to be a professional interpreterQualities to look for when hiring an interpreter Learn more about Lorraine way business through her website, thelanguageway.comImagine a health record system that’s actually designed for genomics, available in 6 different languages, and complete with pedigree drawing, diagnostic insights and more. Well stop imagining and start using, because PhenoTips is nothing like your EHR, it’s the world’s first Genomic Health record system that captures family history seamlessly, regardless of the language patients are comfortable with. Because clear communication is the root of supportive care. Visit phenotips.com to learn more. Check out our sponsor at PhenoTips.com to learn more. Also sponsoring this episode is Genobank, the first anonymous DNA storage and sharing platform that is completely controlled by you with blockchain technology. Here’s the really cool aspect about Genobank, you can choose who you are sharing your DNA with including researchers. You can be a partner in research by choosing specific institutions who can use your DNA in their research projects. Genobank has officially launch at genobank.io, where you can learn more and purchase a kit. Stay tuned for the next new episode of DNA Today the first week of January. New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Our profession has evolved over the last 50 years from a small dedicated group of genetic counselors to over 5,000 individuals in the United States, with sister organizations in Canada, Europe and Australia. Just as the field of genetics has evolved over the last 40 years, so has the National Society of Genetic Counselors (NSGC) and genetic counselors. In this podcast episode, Linda Robinson joins host Kira Dineen to highlight what hot topics, historical accomplishments, challenges, barriers and opportunities during the last 50 years of genetic counseling. Linda Robinson is a retired genetic counselor. She worked primarily prenatal and cancer roles at UCLA , University of Texas Southwestern Medical Center and the California Department of Health. Linda retired as the Assistant Director of Cancer Genetics at The University of Texas Southwestern Medical Center and is currently a consultant grant writer there. She has a long list of publications, grants and awards. Linda has been a very active member of the National Society of Genetic Counselors (NSGC) on countless committees, currently she is in the Late Career SIG. On This Episode We Discuss:Importance of Genetic Counseling History Roots of Genetic Counseling at Sarah Lawrence in 1969Need for the ProfessionCoining Term “Genetic Counselor” and Runner Up Titles The First Genetic Counseling Jobs, Speciality and TestsNational Society of Genetic Counselors (NSGC) Foundation Evolution in Last 50 Years: Challenges, Technology Advancements, Licensure etc. NSGC Online TimelineCurrent Number of Genetic Counselors and Programs Future of Genetic CounselingDon’t forget to check out NSGC’s interactive timeline here! Stay tuned for the last DNA Today of the year on December 25th, 2020. New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

The National Society of Genetic Counselors (NSGC) hosted its annual conference virtually this past weekend with a new record for attendance. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. Thanks to our sponsor for this episode, PhenoTips. Imagine a health record system designed specifically for genomics. Cause let’s be honest, electronic health records are not built for genetics. Now you can stop imagining and start using, because PhenoTips is just this! PhenoTips is the world’s first complete Genomic Health record system with pedigree drawing, standardized symptom capture, diagnostic insights and more, all in one place. Check them out at PhenoTips.com. TimestampsAishwarya Arjunan 1:30-24:20Rebekah Hutchins 25:17-38:50Courtney Studwell 38:50-53:05Ashlyn Enokian 53:05-56:05Presentations Recapped/RecommendedDrawing the line with ECS: When does expanded carrier screening turn into excessive carrier screening? Live Tweet Threads by DNA Today and Aishwarya Arjunan More Than Just Raising Our Voices: Confronting Injustices in Patient Care Beyond common aneuploidies: Expanding existing chromosome testing technologies and subsequent prenatal care  Live Tweet Thread by DNA TodayTransfer of Mosaic Embryos following PGT-A: Updates, Ethics, and Implications Live Tweets by DNA Today (1, 2, 3, 4, 5, 6, 7)2020 Janus Lecture: Ovarian Cancer: A Model for Progress in GeneticsPariah or Pioneer? Stories of Expansion Into New and Emerging Genetic Counselor RolesMastering the Art of Advocacy through Media Relations The PanelAishwarya Arjunan, MS, MPH, CGC, CPH graduated with degrees in genetic counseling and public health genetics from the University of Pittsburgh in 2013 and was certified by the American Board of Genetic Counseling in 2014. She currently works at Myriad Women's Health (formerly Counsyl), a women's health genetic testing and genetic counseling company, as the Clinical Product Manager for the Foresight Carrier Screen. Prior to joining Counsyl/Myriad, Aishwarya was a clinical genetic counselor at the Sarnoff Center for Jewish Genetics and Ann & Robert H Lurie Children’s Hospital in the Department of Genetics, Birth Defects, and Metabolism. Within the Northwestern Genetic Counseling Program, Aishwarya is a core faculty member and serves as a thesis advisor/committee member and has participated in the Admissions Committee and Internet Resources Task Force. Aishwarya is actively involved with the National Society of Genetic Counselors (NSGC) as the 2019 co-chair of the Diversity and Inclusion Task Force and incoming Director At Large for the NSGC Board of Directors. She is also involved locally with the Illinois Society of Genetic Professionals (ISGP) and is a past-president of ISGP. At NSGC 2020 she was honored with the Leader in Cultural Advocacy Award. You can follow Aishwarya on Twitter. Rebekah Hutchins, MS, GC is a perinatal genetic counselor. Currently, she practices at Northside Hospital in Atlanta, Georgia and previously in Hawaii Pacific Health in Honolulu, Hawaii. She received her M.S. in Human Genetics from Sarah Lawrence College’s Joan H. Marks Program. Rebekah has always been passionate about social justice and identifying, dissecting and combating health disparities in marginalized communities. Now as a healthcare professional she identifies innovative ways to bridge those gaps in her work. During her time at Sarah Lawrence College, she developed a cultural competency course for genetic counselors which she has presented twice. You can follow Rebekah on Twitter. Courtney Studwell, MS, CGC, MB(ASCP)CM is a licensed certified genetic counselor at Brigham and Women's Hospital, Boston and is also certified as a Technologist in Molecular Biology through the American Society for Clinical Pathology (ASCP). She counsels patients in the CFMRG and participates in the development and management of genetic testing platforms in the CAMD. She earned her master's degree in Genetic Counseling from Boston University School of Medicine and undergraduate degree in Diagnostic Genetic Sciences from University of Connecticut. You can follow Courtney on Twitter. Ashlyn Enokian, MS, GC is a prenatal genetic counselor at High Risk Pregnancy Center in Las Vegas, NV. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Ashlyn was previously a genetics graphic design intern at My Gene Counsel. Her professional interests include prenatal, ART/fertility, education, and strategies to increase diversity in the field. She earned her B.S. in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Followed by her M.S. in Human Genetics from Sarah Lawrence College’s Joan H. Marks Program. You can follow Ashlyn on Twitter. Kira Dineen, MS, LCGC, CG(ASCP)CM is a certified prenatal genetic counselor at Maternal Fetal Care, PC in Stamford, CT. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 130 episodes interviewing experts in the field. “DNA Today” recently won the People’s Choice Podcast Awards for the Best 2020 Science and Medicine Podcast. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing genetic experts attend by over 700 genetic counselors around the globe. She writes a monthly blog series, “Explained By A Genetic Counsellor” for Sano Genetics. Kira was selected and currently serves as a member of the National Society of Genetic Counselors’ Digital Ambassador program (#NSGCGenePool). She received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. You can follow Kira on Twitter. PosterPresentations Conference Tips (Virtual & In-Person)Exhibit hall for networking, free genetics apparel, job board, professional and fun photos.Wear layers because lecture halls are freezing.Lunch sessions are free and sponsored by labs. Prioritize select sessions to attend live, there is too much to do everything and you can watch later on demand until it expires January 15th. Attend a Special Interest Group (SIG), you don’t have to be a member.Follow and join conversations on Twitter (#NSGC20 and #gcchat)Students, job hunt utilizing the job board (in the middle of the exhibit hall) and hand out your resume. If there is a meet up with a specific company/hospital you are interested in working with/at, then go check it out!ResourcesBe sure to check out all these resources mentioned during the episode. JGC Task Force ReportAll the special issuesSign up for the Focus GroupsStay tuned for the next new episode of DNA Today on December 4th. New episodes are released on the first and third Friday of the month (except this week, thanks for waiting!). In the meantime, you can binge over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. 

Please keep our 2020 Best Science and Medicine Podcast Award momentum going and vote for “DNA Today” for Podcast Magazine’s “Hot 50” Podcasts! You can take 60 seconds to vote here now.Dr. Kat Arney is our guest in this episode of DNA Today. She is a fellow genetics podcaster! She is an award-winning science writer, author, presenter, broadcaster, and public speaker. Her voice will probably be familiar to you as she has appeared on radio and TV around the world including BBC Radio 4, the Naked Scientists and Naked Genetics podcasts, and more recently as the host of the Genetics Unzipped podcast. She has written for outlets including the Times Educational Supplement, BBC Science Focus, the Daily Mail, Wired, BBC Online, The Guardian, and New Scientist. Dr. Arney has authored three popular science books: “Herding Hemingway’s Cats: Understanding How Our Genes Work”, “How to Code a Human” and her new book, “Rebel Cell: Cancer, Evolution, and the New Science of Life's Oldest Betrayal”. Enter our giveaway to win a copy of the book on our Twitter, Instagram, and Facebook.On This Episode We Discuss:Cancer from an evolutionary lensEvolutionary origins of cancer at the start of multicellular lifeCancer identified through DNA from fossilized skeletonsCancer in other species, species without cancerCorrelations between cancer development and species relationshipConservation of cancer genesPeter Nowell’s 40 year old paper, “The Clonal Evolution of Tumor Cell Populations”Definition of a cancerous cellEV-001 reveals the complexity of cancer developmentOverestimate of of cancer after the development of GleevecCancer evolutionary perspective adding in precision medicineSearch “Genetics Unzipped” in your podcast player to hear Dr. Arney’s show. This is a crossover episode as our host Kira Dineen, was also a guest on Genetics Unzipped in September, where she was interviewed about prenatal genetic counseling. Check out the episode titled, “Podcast Rare Genetic Disorder and Pregnancy—Navigating an ’Emotionally Challenging’ Journey.”Learn more about the book at RebelCellBook.com and keep up with Kat on Twitter, @Kat_Arney and @geneticsunzip.In 2016, Elizabeth Turner saw a need to increase access to genetic counseling. This was the inspiration for her to start Advanced Tele-Genetic Counseling. Now during a pandemic there has never been a better time to book a telehealth genetic counseling consult! Cancer genetics is one of many areas that AT-GC specializes in. Their team of genetic counselors are specifically trained to help understand, interpret, and navigate complex genomic information. All genomes have a story to tell. If you are ready to learn yours head over to AT-GC.com to book your appointment with a genetic counselor today.We receive a lot of emails from listeners interested in genetic careers and we love connecting and providing resources. One of those is Keck Graduate Institute’s genetics programs in Southern California. KGI offers a master’s degree in genetic counseling, but for those of you looking for something slightly different - KGI also has a first-of-its-kind graduate program in genomic data analytics. This two-year master’s program gives students the opportunity to work side-by-side with applied life scientists and future genetic counselors while gaining hands-on experience with the technologies and information that are revolutionizing the future of medicine. Learn more about the program by visiting kgi.edu/dnatoday.Stay tuned for the next new episodes of DNA Today released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.Don’t forget to vote for “DNA Today” for Podcast Magazine’s “Hot 50” Podcasts! You can take 60 seconds to vote here now.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

This episode is the last installment of our 7 part direct-consumer genetic testing series. Joining for this episode is guest Melanie Hardy, Assistant Director of JScreen Genetic Counseling Services, which is part of Emory University School of Medicine. Melanie has been an active member in The National Society of Genetic Counselors and the American Board of Genetic Counseling, including chairing multiple committees, workgroups and programs. She has also served on capstone committees for genetic counseling students at multiple universities.On This Episode We Discuss:Number of conditions on carrier screeningDifferent methods of carrier screeningConditions more common in people of Ashkenazi Jewish descentConditions where carriers can have symptomsLimitations of carrier screeningConditions identified on newborn screeningPotential differences between saliva and blood sampleIf carrier screening should be repeatedGenetic counseling session about carrier resultsReproductive options for carriersDuring this COVID-19 pandemic many patients and healthcare providers have turned to telehealth services. One of the first genetic counseling companies in this space was Advanced Tele-Genetic Counseling in 2016. AT-GC was conceptualized and grown by genetic counselors so that patients like you could access a genetic counselor no matter where you live. Their services are more important than ever to reduce your exposure during the pandemic. Learn more and book your appointment today with a board certified genetic counselor at AT-GC.com.Learn more about JScreen on their website, JScreen.org. Stay tuned for the next new episode of DNA Today on November 6th, 2020! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Exciting Announcement: This week “DNA Today” won the Best 2020 Science and Medicine Podcast in The 15th Annual Podcast Awards! This is thanks to each and every listener who nominated and voted for the show. THANK YOU for being such loyal listeners for the past 8 years. We’ve been nominated for four years, and it’s incredible to win this year! For those that aren’t familiar, The Podcast Awards are the longest running podcast awards event open to shows worldwide, this year there was 250,000 people who nominated shows.Michael Schnall-Levin joins host Kira Dineen on this episode to explore genetic testing technology including next-gen sequencing, single cell sequencing and bioinformatics. This episode is part 6 of our ongoing direct-consumer genetic testing series, check out our previous episodes for other deep dives into DTC topics.Michael is the Senior Vice President President of Product, Research and Development and Founding Scientist at 10x Genomics. Before joining 10x Genomics, Michael was an NSF postdoctoral fellow with Eric Lander at the Broad Institute where he worked on developing novel applications of DNA sequencing technologies. Prior to that, Michael worked at Foundation Medicine, where he developed some of the early algorithms to accurately detect mutations in patient tumor samples. Michael earned his PhD in Mathematics from MIT with Bonnie Berger, where he was both a Hertz fellow and NDSEG fellow, and his BA in Physics from Harvard College.On This Episode We Discuss:Steps to Sequence DNA/RNASanger and Next Gen SequencingSingle Cell SequencingProcess, Accuracy, AdvantagesUltiziting in Cancer, ImmunotherapyBioinformaticsFuture of Genetic TestingLearn more about 10X Genomics on their website, Twitter and Facebook.Picture Genetics is our sponsor for this DTC genetic testing series and offers a unique DNA testing service. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your Picture Genetics go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.Stay tuned for the next new episode of DNA Today on October 23th where we continue our direct-to-consumer genetic testing podcast series! New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode is part of our ongoing direct-consumer genetic testing series. Joining the show is an award-winning journalist, Libby Copeland. Copeland, who writes about culture, science and human behavior, is the author of a new book, “The Lost Family: How DNA Testing is Upending Who We Are,” which explores the personal, familial and ethical implications of recreational DNA testing. Copeland was a reporter and editor at The Washington Post for eleven years, has been a media fellow and guest lecturer, and has made numerous appearances on television and radio. Enter our giveaway to win a copy of Libby Copeland’s book, “The Lost Family” on our Twitter, Instagram, and Facebook.Also be sure to enter our mentor session giveaway with our host Kira Dineen who will be meet with the winner in an hour zoom call to discuss applying to genetic counseling schools including essays and resumes.On This Episode We Discuss:DTCs Topics explored in “The Lost Family”Approach and implications of Yaniv Erlich’s 2013 groundbreaking study identifying “anonymous” male DNA donation to researchAncestry information revealed through the Y chromosomeCompanies that offer Y and mitochondrial DNA testingPrevious genetic database techniques to catch criminalsDatabases and techniques used to catch the Golden State KillerHow CODIS works for law enforcementCompanies with the largest databasesChanges to GEDmatches policy after catching the Golden State KillerLaw/protections to prevent law enforcement from using genetic genealogical databasesThe relationship between FamilyTreeDNA and the FBIStatus of DTC genetic testing companies opt in/out policiesThe amount of the American American population that could be identified from the DTC databasesPicture Genetics is our sponsor for this DTC genetic testing series and offers a unique DNA testing service. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your Picture Genetics go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow.Stay tuned for the next new episode of DNA Today on October 2nd, 2020 where we continue our DTC genetic testing series! New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook and Youtube, including our book giveaway! Questions/inquiries can be sent to info@DNApodcast.com.

As part of this episode, 23andMe giving away a free DNA kit! To enter, go to DNA Today’s Twitter/Facebook (@DNApodcast) and Instagram (@DNAradio) and look for the post of a picture of a 23andMe kit with the simple instructions to enter. Don’t miss your chance to win this free DNA kit!Anne Greb, MS, CGC joins the show to share her expertise on direct-to-consumer genetic testing as part of our ongoing series on DNA Today. She is a genetic counselor and serves as lead of the medical education team at 23andMe. In this role, she is responsible for developing educational initiatives that equip healthcare professionals to better integrate personalized genetic information into the everyday care of their patients. Previously Anne was the program director of 3 genetic counseling programs, Wayne State University, Long Island University and Sarah Lawrence College. She also directed the medical genetics course taken by first year medical students at Wayne State University.On This Episode We Discuss:Consumers’ motivations to pursue direct-to-consumer (DTC) genetic testingPotential integration of DTCs into routine medical careAccuracy of DTCs (Ambry Paper)BRCA testing of 3 variantsRecommendations on Utilizing ResultsEducating Consumers on Result ImplicationsAdvice for Genetic Counselors with Patients Presenting DTCsExtra Information from Raw Data23andMe ResearchProtection of Consumers’ DataFuture of 23andMeAre you looking for COVID-19 testing? Our sponsor of this DTC genetic testing series is Picture Genetics, who is now offering FDA-authorized test kits. And you don’t have to leave the house, the kits are shipped directly to your home. Ordering takes only a few minutes by answering some questions about any exposures or symptoms you may have had. You can order your kit directly at picturegenetics.com.For more information about 23andMe you can check out their website, follow on Twitter, and like on Facebook/Instagram. Healthcare providers can also visit 23andMe.com/medical for further information. Don’t forget to enter our giveaway on Twitter, Facebook and Instagram!Stay tuned for the next new episode of DNA Today next month which continues our DTC genetic testing series! New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Picture Genetics Kit Giveaway! Enter to win your own free kit on our Twitter, Instagram, and Facebook.Guests for this episode are from Fulgent Genetics (offering Picture Genetic kits), which is the sponsor of this new Direct To Consumer Genetic Testing Series. Jessica Shiles is a genetic counselor and Dr. Samuel Strom is the lab director.Jessica serves as Fulgent’s Clinical Genetics Marketing Specialist. Her main role is to provide clinical training and expertise to help develop marketing material that is used to educate, support, and inform the patients and providers Fulgent serves. With Jessica’s strong passion for patient advocacy, she also leads Fulgent’s community outreach. She is a fellow Sarah Lawrence College’s alumni where she received her Masters of Science in Human Genetics.Previously Dr. Strom was an assistant professor at the UCLA David Geffen School of Medicine where he pioneered interpreting genomics results in the context of clinical diagnostic testing for rare inherited diseases and cancer. At Fulgent, he is continuing to forward this new science at an industrial scale. He is also an accomplished researcher in the fields of neurogenetics, ophthalmic genetics, and molecular diagnostics, with publications in top journals such as Science, JAMA, Genetics in Medicine, and Human Molecular Genetics.On This Episode We Discuss:Overview of Picture Genetics’ approach to DTCs (including genetic counseling)Difference between DTC genotyping and sequencingConditions on carrier screening (Picture Parenting)Ideal time for carrier screeningNewborn testing for healthy vs sick babiesNewborn testing vs newborn screeningConditions on newborn testing (Picture Newborn)Value of newborn testing after negative carrier screeningACMG59 qualification of conditions (Picture Wellness)Purpose of ordering testing on the ACMG59 genesCOVID-19 DTC testing, including FDA approvalThere is one correction during the episode, Jessica mentioned ACMG when she meant to say ACOG.As a DNA Today listener you can order your kits with code “DNATODAY” for a 25% discount and free shipping. Order at picturegenetics.com and the kit will be delivered right to your home! Thanks for Picture Genetics for sponsoring this DTC series. Don’t forget to enter our Picture Genetics Kit Giveaway on our Twitter, Instagram, and Facebook.Stay tuned for the next new episode of DNA Today on September 4th, 2020! New episodes are released on the first Friday of the month with some bonus episodes thrown in there. In the meantime, you can listen to over 125 other episodes on Apple Podcasts, Spotify, or streaming on the website. Questions/inquiries can be sent to info@DNApodcast.com.

Dr. Adam Rutherford is our guest for this second installment of our Direct-To-Consumer Genetic Testing series. He is a geneticist, author, and broadcaster. Dr. Rutherford has a PhD in Genetics, a degree in evolutionary biology, and is an honorary Research Fellow at UCLA. He was an audio-visual content editor for the journal Nature for a decade, and is a frequent contributor to the newspaper The Guardian. On radio, he is the presenter of BBC Radio 4’s flagship science program, Inside Science, as well as many documentaries. On TV, he has presented multiple BBC series including The Beauty of Anatomy, The Gene Code, and award winners Playing God and The Cell. Dr. Rutherford has also been a scientific advisor to films including Biophilia Live, World War Z, The Secret Service and Ex Machina (2015). He has authored multiple books including, “A Brief History of Everyone Who Ever Lived” and the book we will be discussing today, “How to Argue With a Racist: What Our Genes Do (and Don't) Say About Human Difference” which is being released this August! Enter our giveaway for a copy of his book on our Twitter, Instagram, and Facebook.On This Episode We Discuss:How genetics is woven into the history of raceDiscrepancy of papertrails and ancestry reports from DTCs between European and non-European descentWhat DTC companies can do to address this racial disparityHow genetics of ethnicity contradict Dawkins’ “tyranny of the discontinuous mind” conceptHow is it possible to not be genetically related to an ancestorWhat we can learn by comparing the genomes of African and African-American peopleHow consumer ancestry genetic testing affects how we think about our genetic differencesOlympics reveal of the limitation genetic predispositionDTCs contribution to racial reificationSponsoring this episode is Advanced Tele-Genetic Counseling (AT-GC) which provides virtual appointments to meet with a certified genetic counselor. These one-on-one conversations can help you understand how your own genetics may play a role in your health. Access to healthcare should not be dependent on where you live, which is why ATGC was founded! You can schedule your telehealth appointment directly on their website.As mentioned in the episode, you can signup here for the next free Phenotips Speaker Series on August 12th at 12pmET. Our host Kira Dineen will be interviewing Ellen Matloff about “The Evolving Role of Genetic Counselors in Precision Medicine”.Stay tuned for the next new episode of DNA Today on August 21st! New episodes are released on the first and third Friday of the month. In the meantime, you can binge 125 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. And don’t forget to enter the giveaway! If you can’t wait to see if you've won, head over to Amazon to order your copy. Questions/inquiries can be sent to info@DNApodcast.com.

Last chance to nominate DNA Today in the Podcast Awards for the best Science and Medicine. Please take a few minutes to support the show!This episode kicks off our Direct-To-Consumer (DTCs) Genetic Testing Series! Check out our previous episodes about DTCs including episode 116, 105, 91, 80, and 56.Over this brand new series, we are going to be interviewing a whole bunch of experts including authors Adam Rutherford and Libby Copeland about their new books exploring DTCs and we get to hear directly from companies like Fulgent Genetics, JScreen, and 23andMe. So much more to come over the next few months!This series is sponsored by Picture Genetics, who is now offering FDA-authorized COVID-19 test kits. And you don’t have to leave the house, the kits are shipped directly to your home. Ordering takes only a few minutes at picturegenetics.com. Use code “DNATODAY” for 25% and free shipping on all other kits!To start off this series, we are joined by Jeanette McCarthy, MPH, PhD, who is a UC Berkeley trained genetic epidemiologist with current faculty positions at UCSF and Duke. Her interests are in educating stakeholders in the area of precision medicine, including healthcare providers and consumers. In 2014, Dr. McCarthy helped launch the first consumer-facing magazine in this field, Genome, where she served as the founding Editor-in-Chief. Dr. McCarthy is also the founder of Precision Medicine Advisors, where she develops and delivers workshops and online courses related to genetic testing.On This Episode We Discuss:Top companies in the DTC genetic testing industryDifferences between patient initiated, physician initiated, and/or medical/clinical gradeLesser known areas of testing including pharmacogenomicsRole of FDA regulationLearn more from Dr. Jeanette McCarthy on PrecisionMedicineAdvisors.com. Check out this blog post we mentioned during the episode where Dr. McCarthy explains how the genetic testing industry has developed and some of the recent industry trends and factors impacting its growth.Join host Kira Dineen live on Zoom in the Phenotips Speakers Series on July 27th 12pmET! Kira will be hosting the first installment by interviewing Advanced Tele-Genetic Counseling’s Founder Elizabeth Turner about “Adapting to Virtual Care in Genetic Counseling”. Register for free here.Stay tuned for the next new episode of DNA Today’s DTC series on August 7th with Dr. Adam Rutherford where we discuss his book How To Argue With A Racist: What Our Genes Do (And Don’t) Say About Human Difference. New episodes are released on the first and third Friday of the month. In the meantime, you can binge 125 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Answering your listener submitted questions about the American genetic counseling board exam is the ABGC President, Adam Buchanan, MS, MPH, CGC!Aside from this role at American Board of Genetic Counseling, Adam is an associate professor, genetic counselor and Director of the Geisinger Genomic Medicine Institute. Previously, he was a research associate at Duke Cancer Institute. His clinical expertise includes intimate knowledge of recommended risk management for hereditary cancer syndromes. He is co-leading Geisinger’s MyCode genomic screening program for medically actionable genomic results, and is helping to develop a health services research portfolio on patient-participant, family, and system outcomes of this program.This episode is sponsored by PhenoTips. If you are still drawing pedigrees by hand, you are overdue for an upgrade! PhenoTips provides a free digital pedigree drawing tool. Not only is it intuitive and easy-to-use, it’s 2.5 times faster than your pen and paper. And we all know time is very valuable in the clinic. Give it a try at phenotips.com/signup.On This Episode We Discuss:Timeframe for the boardsStructure of the examStudy resourcesContent on the examStrategy to approach questionsPercentage passing rate (Is there one?)Results and CGC statusAccommodating for COVID-19 (Possible Remote Test Taking)Inclusivity boards price and questionsUpdate: As teased by Adam in this episode, ABGC officially announce the boards exam is also being offered with remote proctoring in August 2020. Read more on their website here.Learn more on ABGC’s website, here is the content outline that was referred to throughout this interview. Here is the practice exam for purchase ($55) to access your strengths and weaknesses. Here is a page to learn more about the scoring of the exam and here is a page to see specific passing rates over the last few years.During the interview we also reference #ABGCListens tweetchat, which you can read here on Twitter. For other genetic counseling conversation read and participate in #gcchat on Twitter. You can also follow Adam directly on Twitter.Next episode of DNA Today is launching the brand new Direct-To-Consumer Genetic Testing series on July 17th! This series will be sponsored by Fulgent Genetics. New episodes are released on the first and third Friday of the month with some bonus episodes thrown in there. In the meantime, you can listen to over 125 other episodes on Apple Podcasts, Spotify, or streaming on the website including the previous series about infertility.See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

PodcastAwards.comSelect “DNA Today: A Genetics Podcast” in the Science & Medicine CategoryIt’s that time of year again, the Podcast Awards Nominations opened today (July 1st, 2020)! So I need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. Also don’t forget to check off that you would like to participate in the voting round, we will need your support then as well.The show has been nominated in 2015, 2016, and 2019, so let’s go for a fourth nomination and a win this year! This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to go nominate DNA Today in the Science & Medicine Category.If you nominate us and share it on social media, tag us and we will repost it. AND we will give you a shoutout on the podcast/radio show.Thank you to all our listeners who have supported us for years and to all the new listeners who have recently tuned in. We look forward to many more years of genetics podcasting ahead of us!

Podcast Award Nominations begin July 1st, 2020! Please help DNA Today receive a fourth nomination (and hopefully a win this year!) by visiting PodcastAwards.com and selecting “DNA Today” in the Science and Medicine category. We can only receive a nomination if YOU nominate the show!This episode concludes DNA Today’s 7 part infertility series. The first episode kicked off with Lauren Isley who shared about fertility genetic counseling. The next two episodes featured a couple who went through reciprocal IVF to have their daughters (part 1 and 2). Filmmakers of fertility movie ANYA joined the show next. Dr. Kara Goldman followed discussing diagnostic fertility testing. Last episode, Genetic Counselor Jennifer Eccles explained the science behind PGT for polygenic conditions.This seventh and final infertility installment explores controversies surrounding fertility with genetic counselor and genetics podcast host, Nick Charles. He is the lead laboratory and quality control counselor at CooperSurgical, a preimplantation genetic testing lab. Prior to working in a laboratory position, he was a prenatal and reproductive genetic counselor at Rutgers-Robert Wood Johnson Medical School, counseling patients with high-risk pregnancies and/or fertility issues in the Maternal Fetal Medicine practice. He earned his bachelor’s degree in pre-med biology from the University of Scranton and his master’s in human genetics and genetic counseling from Sarah Lawrence College.This episode is also one of our crossovers with another genetics podcast. So be sure to hear the other half of our conversation on Nick’s show, Gene Therapy Podcast. Roles are flipped on his show where Nick interviews Kira about how to utilize social media to learn about genetic counseling, and to network and build a career.Sponsoring this episode is Advanced Tele-Genetic Counseling (AT-GC) which provides virtual appointments to meet with a certified genetic counselor. These one-on-one conversations can help you understand how your own genetics may play a role in your health including fertility. Access to healthcare should not be dependent on where you live, which is why ATGC was founded! You can schedule your telehealth appointment directly on their website.On This Episode We Discuss:Preimplantation Genetic Testing (PGT)Appropriate situations and where the line begins to blurMedical guidelines and recommendationsMosaic Embryos:Potential health concernsRegulations around implantationSituations to select and implantSuccess rate of pregnanciesCurrent and future researchDon’t forget to hear the other half of our conversation on Nick’s show, Gene Therapy Podcast. Just search Gene Therapy podcast in our podcast player or listen on his website. Keep up with the show by following on Twitter and Instagram.Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Friday of the month (with some bonus episodes thrown in there like this one)! In the meantime, you can listen to 125 episodes on Apple Podcasts, Spotify, or streaming on the website.See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode continues DNA Today’s series about infertility. Over the last five episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2. The following episode the filmmakers of ANYA, a science fiction film about fertility. Last episode, Dr. Kara Goldman shared her experience in diagnostic fertility testing.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Jennifer Eccles joins the show to discuss PGT-P, preimplantation genetic testing for polygenic conditions. She is the Head of Genetic Counseling at Genomic Prediction Clinical Laboratory. Jennifer has over 20 years of experience in reproductive clinical genetics at institutions like Columbia, Beth Israel Medical Center, and BioReference Laboratories. As a licensed and certified genetic counselor, Jennifer has spent her career discussing genetic testing with individuals and couples at various stages along the path to parenthood. In her current role, Jennifer provides genetic counseling services along with authoring clinical and marketing content. Jennifer's publication history is focused on the patient-facing aspect of genetics and clinical testing. She is also a fellow graduate of Sarah Lawrence’s Human Genetics program.On This Episode We Discuss:Types of PGTPGT-P for Polygenic ConditionsScreening vs Diagnostic TestingList of Polygenic Conditions ScreenedPolygenic Risk ScoresPGT-P StepsCost and InsuranceGenetic CounselingLearn more about Genomic Prediction and their PGT-P on their website genomicprediction.com and follow them on Twitter, Instagram, Facebook, and LinkedIn.Stay tuned for the next and final episode of the DNA Today Infertility series! New episodes are released on the first and third Friday of the month. In the meantime, you can binge 123 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

DNA Today stands in solidarity with BLM and in doing so we wanted to share a few resources with you listeners where you can educate yourself by listening to Black voices in our genetics community. You can support BLM through donations to ActBlue here.Dr. Janina Jeff was a guest back on episode 117 where she shared her new podcast, “In Those Genes”, that uses genetics to uncover the lost identities of african descended americans through the lens of black culture. Please, listen and support her show along with other black podcasts like American Origin Stories, She Too STEM, PhDivas among many others.We also wanted to bring awareness to the Minority Genetic Professionals Network. This group supports minority medical genetic providers and trainees to increase the diversity in our profession and to serve minority communities. MGP also provides resources on how to support non-white patients and co-workers. You can also follow them on Twitter and Instagram.Learn more through Twitter accounts like @DecolonizeDNA and @BlackAFinSTEM, articles in AJMG and AACC.This episode continues DNA Today’s series about infertility. Over the last four episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2. The following episode the filmmakers of ANYA, a science fiction film about fertility.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.This episode Dr. Kara Goldman shares her experience in diagnostic fertility testing. She is the Medical Director of Fertility Preservation at Northwestern Fertility Reproductive Medicine. Dr. Goldman received her MD from Loyola University Chicago Stritch School of Medicine, completed OB/GYN residency at Northwestern University, and trained in Reproductive Endocrinology and Infertility at New York University where she went on to join the faculty.On This Episode We Discuss:When to pursue fertility testingWhich tests are the first orderedHormones that are measured and importance of timingCommon causes of infertilityFertility implications of balanced translocation carriersFertility preservationYou can stay updated with Dr. Goldman on her Twitter account, @karagoldmanmd.Stay tuned for the next new episode of DNA Today on June 19th! New episodes are released on the first and third Friday of every month. In the meantime, you can listen to over 100 other episodes on Apple Podcasts, Spotify, or streaming on the website.See what else we are up to on Twitter, Instagram, Facebook, Youtube, and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode continues DNA Today’s series about infertility. Over the last few episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.It’s been so interesting to hear different perspectives about fertility as it impacts so many people’s lives. Currently 7.3 million Americans are facing infertility! I hope you all have learned a lot alongside us. Be sure to go back and listen to all the fertility episodes if you are interested!On this next installment of the fertility series two guests join the show, documentarian Jacob Okada and anthropologist Carylanna Taylor, PhD who wrote and produced ANYA, a fictional film about fertility. Through their company, First Encounter Productions, Carylanna and Jacob are committed to creating complex characters and compelling stories informed by anthropology, science, and current events. ANYA has had international screenings and was featured as a "Science and Diversity in Film" on Forbes.On This Episode We Discuss:ANYA Film SynopsisInspiration for ANYAKeeping up with Genetic Technology and NewsScientifically Accurate Script WritingProper Lab Equipment FeaturesFeatured Genetic TechnologyPCR, Sequencing, UCSC Genome Browser, CRISPRInclusivity in Science Fiction FilmsForbes had a fantastic feature of ANYA exploring the diversity in the film. Dr. Ruth McCole, who was a scientist on the set, wrote up her experience here. Rotten Tomatoes gives ANYA a 93%. To explore more about First Encounter Productions you can visit their website. For more information about ANYA and to watch it go to anyamovie.com.Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Friday of the month. See what else we are up to on Twitter, Instagram, Facebook, Spotify and Apple/iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode is part of DNA Today’s ongoing infertility series. The series was launched hearing from Genetic Counselor Lauren Isley, she shared about artificial reproductive technologies and infertility genetic counseling.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Last episode we heard from Katie and Christina Bailey. They were sharing their journey to parenthood through reciprocal In Vitro Fertilization (IVF). We continue this conversation on this episode, so if you haven’t heard the first part of our discussion, you are going to want to listen to the previous episode where Christina and Katie Bailey talk about the beginning of their story with IVF.The Baileys have a large following of nearly 100,000 on Instagram, so you can check them out @BabyBaileyMamaDrama.On This Episode We Discuss:Conceiving a Second TimeGenetic Testing During PregnancyTalking to Kids About Their ConceptionDirect-To-Consumer Genetic Testing Finding Biological RelativesDecision to Make Family’s Story PublicCost of IVFFuture Kids and NamesAdvice for People Going Through Fertility TreatmentsIf you are interested in more details about the cost, the Baileys provided a breakdown here. The Bailey’s story was also summed up here. Join nearly 100,000 others in following them on Instagram and Youtube both at @BabyBaileyMamaDrama. You can also check out their blog, babybaileymamadrama.wordpress.com.DNA Today’s infertility series continues on the next episode! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Celebrate Match Day with DNA Today on Friday, April 24th at 7pmET (4pmPT) on Zoom.We want to wish you congrats and share our advice for navigating grad school. Previous guests from last year’s Match Day episode from Sarah Lawrence College’s Class of 2020 will be hosting including Karl Krahn, Maria van Noordenne, Ashlyn Enokian, and Kira Dineen. We’ll also be doing a QnA, so bring your questions!In the meantime, you can revisit our episode (#101) to hear tips from the hosts on how to prepare and what to expect during your first year.All are welcome to attending including current applicants (matched and not matched), prospective/future applicants, and listeners of the show!

This episode continues the DNA Today’s series about infertility. If you haven’t yet heard the episode with Genetic Counselor Lauren Isley, I highly recommend you go back and listen to learn more about the artificial reproductive technologies and the genetic counseling side. It’s a great preview into this episode.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Currently 7.3 million Americans are facing infertility, and this series is bringing awareness to infertility along with teaching the science and genetic side. On this episode, we are going to hear personal perspectives. Joining me are Katie and Christina Bailey. They share their journey to parenthood through reciprocal In Vitro Fertilization (IVF). Christina and Katie have a large following of nearly 100,000 on Instagram, so you can check them out @BabyBaileyMamaDrama. This is part 1 of our conversation, for part 2, you will have to tune into the next episode to hear where the Bailey are today.On This Episode We Discuss:Deciding on Path to ParenthoodEducating Friends and FamilyChoosing a Sperm DonorHormones for IVFTechniques to Fertilize EggsConsidering Embryo AdoptionTo hear about the rest of the Bailey’s IVF journey you will have to tune into the next episode of DNA Today! In the meantime, join nearly 100,000 others in following them on Instagram and Youtube both at @BabyBaileyMamaDrama. You can also check out their blog, babybaileymamadrama.wordpress.com.Don’t forget to hear the rest our our conversation in the next episode of DNA Today! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode is kicking off a series about infertility. The launch of this series is coinciding with infertility awareness week, April 19-25th, 2020. Over the next few episodes of DNA Today, we will be talking to experts in fertility these include genetic counselors, a couple who went through IVF, even filmmakers who produced a science fiction movie about fertility.Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.Currently 7.3 million Americans are facing infertility, and we wanted to bring awareness to this, but also education by having these conversations to learn about the science and genetic side, but also the patient side and hearing how infertility has impacted people’s lives and hearing their perspective. So many excited guests coming up!The first guest to launch this series is Lauren Isley, who is a genetic counselor that specializes in fertility and assisted reproductive technologies, known as ART for short. She is a Clinical Science Liaison at Generate Life Sciences (Formerly California Cryobank Life Sciences), a company that provides reproductive tissue and donor gamete services as well as newborn stem cell storage. Lauren is the Chair Elect of the Genetic Counseling Professional Group of the American Society of Reproductive Medicine (ASRM) and former chair of the ART/Infertility SIG of NSGC. Lauren has a Bachelor’s Degree in Biology from the University of Missouri. She went on to earn her Masters of Science in genetic counseling from Wayne State University.On This Episode We Discuss:Roles of a Genetic Counselor in FertilityFertility Technology OptionsCarrier ScreeningIn Vitro Fertilization (IVF)Types of Preimplantation Genetic Testing (PGT M, SR, A)Information and Limits of PGTsEgg and Sperm Freezing/DonatingDirect-to-Consumer (DTC) genetic testing impact on gamete donationNext episode we will be continuing this infertility series. Again infertility awareness week is April 19-25th, 2020. You can learn more by going to RESOLVE: The National Infertility Association. They are a non-profit organization dedicated to ensuring that all people challenged in their family building journey reach resolution through being empowered by knowledge, supported by community, united by advocacy, and inspired to act. Their website is resolve.org.You can also check out this blog post from the National Society of Genetic Counselors, “How Genetics Affects Infertility and Miscarriage”.Stay tuned for the next new episode of DNA Today’s infertility series on April 17th, 2020. New episodes are released on the first Friday of the month with some bonus episodes thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Zaki Sabet joins the show to discuss issues in the diagnostic process of hematologic cancers. Zaki has been with Precipio since co-founding the company in 2011 and currently serves as the Chief Operating Officer. He holds over 15 years of experience in laboratory management spanning all fields of reference laboratory operations primarily focusing on cancer diagnostics, which is the focus of our conversation on this episode. Prior to Precipio, Zaki has served as a consultant with the College of American Pathologists (CAP) for many years as well as several diagnostic companies in setting up their specialized cancer testing operations. Zaki holds a Bachelor of Science degree in Biomedical Engineering from the New Jersey Institute of Technology.On This Episode We Discuss:Background on Hematologic Cancers including SubtypesFrequency of Hematologic CancersPrevalence of MisdiagnosisDiagnostic Odyssey for PatientsMisdiagnosis Impact on Treatment and Disease CourseImpact of Physician’s Clinical Suspicions on Lab Tests OrderedCurrent Lab Tests to DiagnosePrecipio’s Solution to Reducing Misdiagnosis with IV-CellLearn more about Precipio on their website. You can also follow them on Twitter, LinkedIn and Facebook.Check out Picture Genetics, a clinical grade DNA testing service where physicians and genetic counselors are involved. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports, live chats, emails and even genetic counseling. To order your Picture Genetics go to PictureGenetics.com use code “DNATODAY” for 25% off and free-shipping!Stay tuned for the next episode of DNA Today on April 6th, 2020 which kicks off the fertility series! New episodes are released on the first Friday of the month with some bonus episodes thrown in there. In the meantime, you can listen to over 100 other episodes on Apple Podcasts, Spotify, or streaming on the website.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode continues the crossover series with other podcasts. Joining the show is Dr. Janina Jeff, who is a Human Geneticist and the first African American to graduate with a PhD in Human Genetics from Vanderbilt University. She is currently a Senior Scientist at Illumina, a biotech company that creates technology for companies such as Ancestry.com and 23&Me. Her research career was focused on population genetics, specifically studying admixed populations (descendants with African ancestry) and discovering population specific genetic risk factors of common disease. Her podcast, “In Those Genes”, is a hip-hop inspired show that uses genetics to uncover the lost identities of African Americans.On This Episode We Discuss:Inspiration to pursue genetics careerDiversity advancing researchUnique aspects of African genomesDisparity of health and medicine in Non-European populationsAncestry’s Horrendeous Advertisement Romantizing SlaveryDr. Jeff’s 46 Chromosomes and a Mule ArticleReal Cost of Direct-to-Consumer Genetic TestingBecoming the Primary Shareholders of our Genetic InformationDr. Jeff’s TEDtalk“In Those Genes” PodcastDr. Janina Jeff won Spotify’s “Sounds Up Bootcamp” which helped to launch her new podcast, “In Those Genes” available on Spotify, Apple and all major podcasting apps. Or you can go straight to their website, Twitter, or Instagram (@inthosegenes).Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

By the end of 2020, roughly 100 million people will have taken an at-home DNA test, according to MIT Technology Review. To put that into perspective, that’s more than the combined populations of Texas, California and Florida! In this podcast episode we explore considerations of direct-to-consumer genetic testing.Guests joining the episodes are from DNA ALLY, the matchmaker between direct-to-consumer genetic test consumers and genetic counselors. Nargol Faravashi, is the Co-Founder of DNA ALLY with a background in genetics and business. She had over 20 years of experience in launching clinical products for genomic companies along with an extensive background in business and marketing.Christin Coffeen has been a licensed certified genetic counselor for almost 20 years. She has a background in cancer and prenatal genetic counseling in the clinical setting as well as extensive industry background in medical affairs. She is also a member of DNA ALLY’s board of advisors.On This Episode We Discuss:Comprehensiveness of direct to consumer (DTCs) genetic testing testsTypes of information from genetic testing includingBRCA1/2 testingAlzheimer’s diseaseCarrier status for conditions like Cystic FibrosisPossibility of genetic testing becoming routine testingHealthcare provider’s ability to counsel patients on DTCsRead more on DNA ALLY’s Blog PostDNA ALLY’s solution to the overwhelming demand of counseling on DTCsOpportunities for genetic counselorsLearn more about DNA ALLY on their website and receive 15% off with promo code “DNAToday” on your direct-to-consumer genetic testing session with a genetic counselor.Stay tuned for the next new episode of DNA Today on March 6th with Dr. Janina Jeff talking about her brand new genetics podcast, In Those Genes! New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 100 other episodes on Apple Podcasts, Spotify, or streaming on the website.Don’t forget to check back in April for the launch of the first ever series on the show about fertility! Its launch is timed to coincide with infertility awareness week, April 23–29. I’ll be speaking with voices in fertility to explore topics like personal journeys, IVF, conceiving via a donor, media portrayal, genetic counseling, and fertility testing. Sponsoring the series is LetsGetChecked, check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Dr. Daria Julkowska joins the show for Rare Disease Month as the Coordinator of the European Joint Program on Rare Diseases. This organization was newly established in January 2019. Daria is of Polish origin but she has lived and worked in France for the last 18 years. She has a PhD in molecular biology and is involved in rare diseases research and management for the last ten years.The European Joint Program on Rare Diseases represents 89 partners across the EU and beyond. Internally, the partners include research funders, research institutions and infrastructures, hospitals and of course patient organizations. The program is financed by the EU and the states participating in the project.On This Episode We Discuss:Motivation to Start the OrganizationGoals for the Rare Disease CommunityCountries RepresentedRare Disease Visual PlatformAdvancing Rare Disease ResearchOngoing Research ProjectsFunding for ResearchCombating Exorbitant Costs of Treatments (Ex: Spinraza)Rare Disease Day/Month InvolvementHappy Rare Disease Month! If you are in the US you can get involved by going to the National Organization for Rare Disorders’ website, rarediseases.org. You can find ways to get active on social media and in person events. Learn more about The European Joint Program on Rare Diseases by visiting their website.Want to hear more from the rare disease community? Check out all the 20 rare disease episodes of DNA Today here! Recent episodes include #102 Seth Rotberg on Huntington Disease, #98 Lydia Seiders on Aplastic Anemia, and #95 Kieger Family on Familial Adenomatous Polyposis.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Genetic Counselor Matt Burgess join the first episode of 2020 to talk about Australian genetic counseling and being a clinical science liaison. He built one of Australia’s most successful genetic counseling private practices in Melbourne. Matt provided versatile genetic counseling services using a broad scope of knowledge including hereditary cancer, neurogenetics, prenatal genetics, adult, pediatric and cardiac genetics. He earned a graduate degree in genetic counseling from the University of Newcastle and a Masters of Applied Positive Psychology at The University of Melbourne. He is currently a Clinical Science Liaison at Baylor Genetics. Matt also hosts another genetics podcast, “Demystifying Genetics”, which makes this is episode part of my crossover series with other genetic podcasts.On This Episode We Discuss:Australian Genetic CounselingNumber of Genetic Counselors and ProgramsMain Areas of PracticeHealthcare System Compared to the United StatesPrivate v. Public Health FacilitiesInsurance and Hospital StructuresCertification ProcessPrivate PracticesRequirements to See A Genetic CounselorIndustry SpecialityRole of a Clinical Science LiaisonThe Advantage of a Clinical BackgroundHow to Support Sales EducationStay tuned for the next new episode of DNA Today! New episodes are released on the first Friday of the month with some bonus episode thrown in there. In the meantime, you can listen to 113 other episodes on Apple Podcasts, Spotify, or streaming on the website.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode is part of the crossover series with other podcasts, today’s episode is a crossover with “Advancing Dentistry” also hosted by Kira Dineen. Lauren Winter joins host Kira Dineen on this episode exploring the genetics of dentistry. They are both genetic counseling graduate students, Lauren attends the University of Pittsburgh and Kira attends Sarah Lawrence College. Lauren is a Research Assistant involved in the COHRA2/COHRA Smile Projects at the Center for Craniofacial and Dental Genetics. Lauren and Kira discuss this project and dental genetics in general.On This Episode We Discuss….Role of Genetics in Oral HealthPotential Uses of Genetic Testing in DentistryFactors Contributing to Oral Health Disparities in AppalachiaData Collecting and Analysis of Human Genetics, Oral Microbiome, Oral pH etc.Participant Requirements and Advantages to a Longitudinal ApproachRelationships Between Genetic Factors, Dental Caries/Cavities and BMIPotential Ways for Dentistry and Genetics to MergeLearn more about Lauren’s experience in her role as a graduate research assistant at the Center for Craniofacial and Dental Genetics in this blog post. Stay updated by following the CCDC on Facebook and Lauren on Twitter.Want to learn more about dentistry? Be sure to check out “Advancing Dentistry” podcast on Apple, Spotify, and AdDent.com. You can also follow on Twitter, Facebook, Instagram and LinkedIn. If you are a dentist or part of a dental team take a look through AdDent’s dental instruments and use code “ADPOD15” for 15% off in the store.Stay tuned for the next new episode of DNA Today released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

On this episode, we explore the pediatric speciality of genetic counseling. Guest Sam Toy is a pediatric genetic counselor at the Washington University School of Medicine in St. Louis. She earned her BS in Biology and MS in Professional Biology from Indiana University. She went on to earn her MS in genetic counseling from Indiana State University.On This Episode We Discuss:The role of a pediatric genetic counselorOutline of a genetic counseling sessionUnique aspects of pediatric genetic counselingGenetic testing whole genome/exome vs specific genesGenetic testing results’ give a diagnosis, change medical management, and insurance coveragePsychosocial aspects of counselingTransitioning from grad school to being a genetic counselor full timeApplication deadlines are approaching for genetic counseling grad schools, if you are working on your applications check out episode 87 which features tips from genetic counseling students on applications. Then episode 97 has advice on the other half of the application process (interviews, ranks, and match) once January/February rolls around.Next week is Thanksgiving in the US, and that means it’s National Family Health History Day, so if you have an opportunity with family this holiday ask them about health history, it’s the best genetic test we have!Variant classification and interpretation have become important skills for genetic counselors. But it takes so long! Even if it’s just a VUS you want to double check. To make it streamlined check out franklin.genoox.com/DNAToday. You can access so much information about a variant including relevant publications, automated ACMG classifications, annotations and phenotypes/disease. Best part? It’s free! All this data about one variant is compiled at your fingertips. No more sifting through PubMed! Join the future of variant interpretation.Stay tuned for the next new episode of DNA Today on December 6th, 2019. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

The National Society of Genetic Counselors celebrated 40 years at this year’s annual conference! In 2019, we surpassed having 5,000 genetic counselors in the US/Canada! We now have 45 genetic counseling graduate programs in the US and 40 more international.In this podcast episode we recap highlights from the sessions and tips for new attendees next year. Below are some of our talking points and resources we mentioned in the episode. Also check out #NSGC19 on Twitter to read more insight from the conference.Should All Women With Breast Cancer Be Offered Genetic Testing?Panel: Dr Mark Robson from MSK, Dr Peter Beitsch from the Dallas Surgical Group, Sue Friedman founder of FORCE.Moderators: Dr. Lisa Madlensky from UC San Diego and Dr. David Euhus from Johns HopkinsMain points of the talk included…Clinical utilityInformed consent vs informed assentResearch vs diagnosticConcordant vs discordant resultsAccessibility and information givingProvider education and utilization of genetic counseling skillsetNCCN GuidelinesEmerging Therapies for Adult-Onset Neurologic Diseases: Possibilities, Pitfalls And Patient ImpactDr. Sonia VallabhPrion Alliance’s WebsiteWIRED’s article, “One Couple’s Tireless Crusade to Stop a Genetic Killer”The Guardian’s article, “The Lawyer Who Became A Scientist To Find A Cure For Her Fatal Disease.”Enabling The Beautiful Uncertainty of Life: My Journey With PGT-MLee Cooper, JDLee’s article in STAT News, “Genetic Testing Plus IVF Can Sidestep Genetic Disease And Reduce The Need For High-Priced Therapies.”The Institute For Genetic Disease PreventionIn Utero Stem Cell Transplantation: Historical Context, Present State And The Future Of Fetal Molecular TherapiesBillie Rachael Lianoglou, MS, UCSF Center for Maternal-Fetal Precision MedicineTIME Magazine Feature, “Scientists Are Developing New Ways to Treat Disease With Cells, Not Drugs.”Clinical Trial for Alpha Thalassemia MajorUCSF Center for Maternal-Fetal Precision Medicine’s WebsiteHot Topics In Teratology: Zika, Marijuana, and Maternal Therapies For Genetic DiseaseVictoria Wagner, MS, CGC, Myla Ashfaq, CGC, Jennifer Lemons, CGC all from McGovern Medical School at the University of Texas HealthCDC’s Zika General Resources and Pregnancy ResourcesMother To Baby (DNA Today Interview with MTB)Marijuana in Pregnancy Fact SheetConference TipsExhibit hall for networking, free genetics apparel, job board, professional and fun photos.Wear layers because lecture halls are freezing.Lunch sessions are free and sponsored by labs.Prioritize select sessions, there is too much to do everything.Attend a Special Interest Group (SIG), you don’t have to be a member.Follow and join conversations on Twitter (#NSGC19 and #gcchat)Students, job hunt utilizing the job board (in the middle of the exhibit hall) and hand out your resume. If there is a meet up with a specific company/hospital you are interested in working with/at, then go check it out!The PanelMichael Peneycad is a second year graduate student at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College, originally from Grand Rapids, Michigan. He earned his B.S. in Cell & Molecular Biology from the University of Michigan and spent time as adjunct faculty at Grand Valley State University before relocating to New York City in 2014. Michael has been involved in many industries including entertainment, events, automotive, and health care in his time before entering graduate school, working with companies such as Spectrum Health Medical Group, Mazda, Jaguar/Land Rover, Chanel, Google, and Target. Michael has also spent years performing in musicals, commercials, and voice-overs during the time between his academic studies. His professional interests include cancer genetics, patient and provider education, and public health initiatives. You can follow Michael on Twitter and Instagram. Go Blue!Ashlyn Enokian is a second year genetic counseling student from Brighton, Michigan. She earned her BS in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Ashlyn was previously a genetic graphic design intern at My Gene Counsel. Her professional interests include fertility, neurogenetics, and strategies to increase diversity in the field. She acts as a student representative of Sarah Lawrence College’s Class of 2020. You can follow Ashlyn on Twitter..Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015, 2016 and 2019 Podcast Awards. She also hosts other healthcare podcasts including Working For Health, Advancing Dentistry, and Insight Says: A Mental Health Podcast. Kira is a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her in Bachelor's of Science degree in Diagnostic Genetics with a Cytogenetics concentration at the University of Connecticut, and has a certification as a Cytogenetic Technologist. Along with Ashlyn, she is a student representation in Sarah Lawrence College’s Genetic Counseling Class of 2020.Want to learn more about Sarah Lawrence College’s Genetic Counseling Program? Come to our open house this Friday (November 15th) from 6-8pmET.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

It’s been 22 years since THE genetic thriller was released…. Gattaca. How has the film aged with genetic technology, society, ethics, and more? Find out in this episode!If it’s been a while since you’ve seen the film, refresh yourself with the plot summary below.Vincent Freeman (Ethan Hawke) has always fantasized about traveling into outer space, but is grounded by his status as a genetically inferior "in-valid." He decides to fight his fate by purchasing the genes of Jerome Morrow (Jude Law), a laboratory-engineered "valid." He assumes Jerome's DNA identity and joins the Gattaca space program, where he falls in love with Irene (Uma Thurman). An investigation into the death of a Gattaca officer (Gore Vidal) complicates Vincent's plans.On This Episode We Discuss Ethical Questions Like...How has our understanding and appreciation of the film changed throughout our careers?Do you think the way Vincent exfoliates and environment would stand up to our current technology?How accurate did the film predict fertility technologies like PDG?What is the true goal of genetic perfection? What is the cost?What types of polygenic risk scores are being offered today?How well can laws really prevent genetic discrimination?How much can you protect your own genetic information?How accurate is the film in regard to the society effects of the “haves” and “have nots”?What was the alternative ending of Gattaca? What does it warn society?Do you have more thoughts about Gattaca? We want to hear from you, tweet @DNApodcast to share your insight! Too long for a tweet? Email in at info@DNApodcast.com.Stay tuned for the next new episode of DNA Today in early November where I will be b joined by a few guests to discuss the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first Friday of the month. Often I’ll have a second episode later in the month. See what else I am up to on Twitter, Instagram, Facebook and LinkedIn. Questions/inquiries can be sent to info@DNApodcast.com.

Shenela Lakhani is the Director of Genetic Counseling and Clinical Engagement for the Center of Neurogenetics at Weill Cornell Medical College, in New York City. In this role she studies the genetics of neurodevelopmental disorders and neurological disease of aging and adulthood.Before this role, she was the first certified genetic counselor in Qatar, a country in the Middle East. Shenela established the profession in the country and promoted genetics within the Middle East by speaking at international conferences. In Qatar she helped to establish high-risk breast cancer screening guidelines and a high-risk gastrointestinal clinic while contributing to local testing and screening guidelines.On this episode we explore what it was like to be the first certified genetic counselor in a country and how she was able to start the profession there and make an impact in public health in Qatar.On This Episode We Discuss:Inspiration and Motivation to Move Across the WorldChallenges of Starting Genetic Counseling in A New CountryCommon Genetic Disorders in QatarGenetic Stigma and Public Perspective of HealthcareGenetic Carrier and Newborn Testing in QatarAdaptations to Counseling in A Different CountryLearn more about Shenela Lakhani on her LinkedIn Profile and Weill Cornell’s Center for Neurogenetics website.Stay tuned for the next new episode of DNA Today on October 24th, 2019. In this special installment my peers Ale Cantu and Catherine Mayo join me to celebrate the 22nd anniversary of the genetics film Gattaca by discussing its relevance today in the field.New episodes are released on the first and third Fridays of the month. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

On this episode Dr. Becky Winslow, a Doctor of Clinical Pharmacy, shares her insight about pharmacogenomics. She is a Clinical Pharmacogenetics Implementation Consortium Member, a Registered Pharmacogenomics Education Provider and a pharmacogenomics implementation specialist as the owner of inGENEious RX, LLC.On This Episode We Discuss:Pharmacogenomics vs PharmacogeneticsCurrent Understanding of PharmacogenomicsTesting AvailableGeneral Population TestingAreas of Healthcare UltizedPrecision Medicine Approach to PrescriptionsMental Health, Cancer etc.Roadblock to Widespread UsePhysicians Ability to Translate Test ResultsGenetic Counselors Potential RoleFuture of PharmacogenomicsCheck out the first truly anonymous direct to consumer genetic testing company, Secret Sequence. The founders joined me on episode 105 to share about the company and what they offer consumers. For $25 off two or more DNA kits use promo code, “DNAToday” at secretsequence.com. See what else they are up to on Instagram, Facebook, and Twitter. Have questions for them? Give them a ring at 833-Secret3.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

The genetic podcast crossover series continues with Grey Genetics’ Patient Stories! Host Eleanor Griffith returns as a guest to offer listeners a peek inside her genetic counseling company behind the podcast.Eleanor Griffith is a board certified genetic counselor and the founder of Grey Genetics, a genetic counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and a Course Instructor at Sarah Lawrence where she also received her master’s.Eleanor’s previous appearance was on episode 71 of the show back in 2017. She shared her insight on how to have a competitive genetic counseling graduate school application. There are also 2 other episodes of this show (87 and 97) where myself and a panel of other grad school students discuss the application process including the match system, which was brand new for my class.On This Episode We Discuss:Grey Genetics’ Genetic Counseling ServicesGenetic Counseling Specialities OfferedProcess from the Patient Perspective.Requirements, Insurance, Self-PayGenetic Counselor State Licensure for TelehealthBe sure to check out Grey Genetics’ podcast, Patient Stories. Stay updated on Twitter and Instagram. Meet the Grey Genetics network! Learn more about Grey Genetics in this Medium piece.Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

This episode launches a new series within the show: crossover episodes! I’m teaming up with other genetics podcast to invite hosts of other shows to join me on DNA Today and sometimes I’ll be a guest on their show as well.Kicking off this new series is Dr. Patrick Short, the CEO of Sano Genetics. He is experienced in genomics research with a focus on large-scale genome sequencing projects and rare disorders. Previously he was at the Wellcome Trust Sanger Institute and the University of Cambridge in England. We explore current understandings of genetics of autism and Sano Genetics’s studies.On This Episode We Discuss:Sano Genetics’ for Patients, Consumers and ResearchersEligible Participants For Sano Genetics' StudiesUnderlying Autism and Mathematical AbilityCurrent Understanding of Autism GeneticsGenetic Testing for AutismUniversity of Cambridge’s Autism Research StudiesLargest Study of Psychological Sex Differences and Autistic TraitsThis episode is one part of our conversation, to hear the other half of our conversation check out their podcast, “The Genetics Podcast”. On that episode, Dr. Patrick Short interviews me about genetic counseling and cytogenetics.Stay tuned for the next new episode of DNA Today next week on Friday September 6th. New episodes are released on the first Friday of the month with some bonus episode thrown in there, like this one!See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.This summer I was interviewed on a few podcasts including In EyeSight talking about impact social media’s impact on the rare diseases community and on Dr. Mara Karpel’s Your Golden Years sharing about genetic counseling and testing.

This episode launches Secret Sequence as the new sponsor for the show! Joining me on the episode are the founding team of Secret Sequence, Jason Corbiere and Austin Maier.On This Episode We Discuss Genetic Privacy:- Secret Sequence’s Genetic Testing Kits- Data Security of Genetic Tests- Major Data Breaches- GEDmatch’s Role in Identifying the Golden State Killer- Genetic Information Nondiscrimination Act of 2008 (GINA)- Data Privacy Responsibility of Genetic Testing Companies (DTC and medical grade)- Continued Explosion of Direct To Consumer Genetic Testing (100 million consumers by 2021)- Kira’s Experience with Secret Sequence Genetic Testing KitsFor $25 off two or more kits use promo code, “DNAToday” at secretsequence.com. See what else they are up to on Instagram, Facebook, and Twitter. Have questions for them? Give them a ring at 833-Secret3.Stay tuned for the next new episode of DNA Today or go back and listen to over 100 other episodes! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

TLDR: Nominate “DNA Today” in the Podcast Awards’ Science & Medicine Category before July 31st. I have a big favor to ask from each of you. You may have heard in my last episode, the Podcast Award nomination season has begun! It’s a people’s choice type of award. So, I need listeners like you to nominate the show in the Science and Medicine category. DNA Today was nominated back in 2015 and 2016. And it would be such an honor to be nominated again.In order to be in the running though, I need 2 minutes of your time. It’s very simple, here are the steps!PodcastAwards.comClick Blue Button “Nominations Now Open” (or click this direct link)Sign up (name, email, password)Enter the verification code from your emailScroll down to Science and Medicine Category on the leftSelect “DNA Today: A Genetics Podcast”Nominate any other of your favorite showsClick “Save Nominations”Post on social media that you nominated DNA Today and tag me for a retweet/share and follow back!Nominations close on July 31st, 2019. But don’t forget! If you enjoy the show or it has help you learn about genetics this is a great way to give back by just taking 2 minutes to nominate the show. It really helps to increase visibility so other people can also benefit from learning through the show.Thanks in advance! I really appreciate the support from all you lovely listeners.

Listeners, I have a big favor to ask from all of you. The Podcast Award nomination season has begun! It’s a people’s choice type of award. In order to be in the running I need listeners like you to nominate the show. DNA Today was nominated back in 2015 and 2016. It would be such an honor to be nominated again.In order to be in the running though, I need 2 minutes of your time. It’s very simple…Go to PodcastAwards.com and enter “DNA Today” for the Science and Medicine category. That’s it!Now this closes July 31st, 2019. Don’t forget, if you can please go nominate the show if you enjoy listening! It really helps to increase visibility so other people can also benefit from learning through the show. Thanks in advance! I really appreciate the support for the show.The Camden Opioid Research Initiative has a three pronged approach as outlined below.1) A biobank for blood and brain samples taken from people who have died from overdose as well as family members who are interested in donating.2) A prospective clinical study of chronic pain patients to determine the interplay between genetic and biological risk factors for opioid addiction.3) A clinical study of people currently being treated for opioid addiction to investigate what treatments work best for different genetic makeups.Three scientists from the project join me:Dr. Stefan Zajic, the scientific lead on the project.Dr. Kaitlan Baston, the director of Addiction Medicine at Cooper University Health Care.Dr. Russ Buono, a Professor of Biomedical Sciences at Cooper Medical School of Rowan University.On This Episode We Discuss:-Types of Genetic Testing for Opioid Susceptibility-Non-Genetic Factors to Opioid Dependence-Brain Biobank of Opioid User Tissues-Brain Differences of Opioid Users-Potential Uses of Opioid Genetic ResearchStay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. With a few bonus episodes here and there. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira Dineen at info@DNApodcast.com.

On This Episode We Discuss:Services WatershedDNA OffersMotivation Behind Writing “The DNA Guide for Adoptees”Differences in Genealogical Research for Adoptees Compared to General PopulationPreparing to Meet New Biological Family MembersAdvice for DNA Testing Adoptee Related SearchesDNA Testing for Children/Minors to Find Biological RelativesInsight for Adoptee’s Seeking Medical Information via DNA TestingNon-DNA Methods to Search for Lost Biological RelativesMy Heritage’s DNA Quest Project for AdopteesListen to episode #80 with My Heritage’s Rafi Mendelsohn to learn more.Since recording this project has expanded to offer more free kits!Resources for the Adoptee/Donor CommunityFacebook Groups: DNA Detectives and Adoption Search and ReunionAdopteeRightsLaw.comLook out for our “The DNA Guide For Adoptees” book giveaway in the next couple days on social media (links below)!Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira Dineen at info@DNApodcast.com.

Seth Rotberg, a rare disease patient advocate and motivational speaker, joins the show to share his perspective on Huntington Disease (HD).From 2011 – 2015, Seth served on the boards for the HDSA National Youth Alliance (NYA) and HDSA Massachusetts Chapter to continue his efforts in the HD community. He became the President of the HDSA NYA in 2012 and HDSA Massachusetts Chapter in 2013, where he led a group of dedicated volunteers to plan and execute fundraising and educational events.Seth is still an active member of the Huntington Disease community and currently sits on the Board of Trustees for the Huntington’s Disease Youth Organization (HDYO). As a member of the working board, he connects young people to the proper social, emotional, and educational resources needed when coping with HD. His hope is to be a mentor for young people who face adversity by sharing how taking control of his HD journey has given him opportunity, fulfillment, and hope.On This Episode We Discuss:-How Huntington Disease Affects the Body and Mind-Seth’s Journey with Huntington Disease-Seth’s Family’ History and Experience with Huntington Disease-Genetic Testing Process and Seth’s Advice-Importance of a Support System-Inspiration Behind Seth Becoming a Patient AdvocateTo read and hear more from Seth check out his website, follow him on Twitter, watch his TED Talk and listen to his own podcast, Rare Unplugged.Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Happy Genetic Counseling Match Day! Today we are celebrating the genetic counseling graduate program match day by discussing how to prepare and what to expect during the first year. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round.In a way this is a follow up episode from the application process discussions. If you are thinking about or planning on applying to genetic counseling grad schools check out those episodes. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. In episode 97, the panel discussed the second portion of the application cycle: interviews, ranking, and matching.On This Episode We Discuss:Classes to Take to Fulfill Prerequisites before EnrollingManaging the FinancesLoans, Financial Aid, Budgeting, and JobsExtra Steps for International StudentsHealthcare, Visa, MovingFinding Housing and RoommatesFirst Year ClassesRotationsDisability and Genetic CounselingThesisStudent Mentor ProgramThe PanelKarl Krahn is a first year genetic counseling student at Sarah Lawrence College. He earned his BS in Biology from the University of the Fraser Valley in Abbotsford, British Columbia, Canada at the end of 2017. During his undergraduate career, Karl performed research in bioethics at UFV and research on food systems in Nairobi, Kenya at Aga Khan University. He volunteered at a genetic counseling office and was a mentor for his community’s youth mentorship program. His professional interests include, oncology, variant research, and, his personal favourite, the murky waters of how athletic performance is intertwined with genetics.Maria van Noordenne is from British Columbia, Canada. She earned her BS in Psychology (with a Biology focus) and a minor in Statistics, as well as her MS in Cognition and Brain Sciences from University of Victoria in 2017. She spent time her time volunteering at a transition house crisis line and at medical genetics in Victoria General Hospital. She also worked as a crisis counselor at a youth shelter in addition to contracting research projects, including a few months in Nunavut, Canada. She is excited to be completing her first year of genetic counseling at Sarah Lawrence College.Ashlyn Enokian is a first year genetic counseling student from Brighton, Michigan. She earned her BS in Biology and a minor in Criminal Justice from Grand Valley State University in 2017. Her journey into the field of genetic counseling began with advocacy work through Crisis Text Line and Help Pregnancy Crisis Aid. She worked as a genetic counseling assistant in cancer genetics at Saint Joseph Mercy Hospital, pediatric genetics at the University of Michigan, and laboratory genetics at Progenity, Inc. Her professional interests include fertility, neurogenetics, and strategies to increase diversity in the field. She acts as a student representative of Sarah Lawrence College’s Class of 2020 and is a genetics graphic design intern at My Gene Counsel.Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her in Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut, and has a certification as a cytogenetic technologist. Along with Ashlyn, she is a student representation in Sarah Lawrence College’s Genetic Counseling Class of 2020.Interested in getting in contact with a current student at a specific school? Shoot us an email (info@DNApodcast.com) and we will work our networks to connect you. Don’t hesitate, we love networking with fellow future genetic counselors!Stay tuned for the next new episode of DNA Today on May 3rd, 2019 with patient advocate and motivational speaker Seth Rotberg who shares his experience with Huntington Disease in honor of awareness month. New episodes are released on the first Fridays of the month and sometimes there are bonus episodes, like this one, on other Fridays! See what else I am up to on Twitter, Instagram, Facebook and iTunes. All questions, comments, and inquiries can be sent to info@DNApodcast.com.

This show is a landmark episode, number 100! I want to sincerely thank all you listeners, new and old, for tuning in. It’s been such a fantastic experience over the last 7 years to share news and interviews with you all and learn along with you. I hope you’ve enjoyed listening to the shows as much as I have have enjoyed recording and producing them.Author Carl Zimmer joins me to discuss new and old hereditary concepts. He writes the Matter column for the New York Times and has contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm: E. coli and the New Science of Life, and his latest, She Has Her Mother’s Laugh: The Powers, Perversions, and Potential of Heredity which we discuss on this episode. She Has Her Mother’s Laugh has been named the 2018 science book of the year by the Guardian and Amazon. It was also included in 2018 book lists on The New York Times, Publishers Weekly, Kirkus Review, Mental Floss, Science Friday among others.On This Episode We Discuss:Early History of our Understanding of HereditaryEver Changing Definition of HereditaryTypes of Hereditary including Vertical vs. HorizontalPercentage of Shared DNA (or lack thereof) between RelativesHuman Interest in AncestryLearn more about Carl Zimmer on his website and stay updated with his writing by following him on Twitter and Facebook. You can also check out his book, She Has Her Mother’s Laugh on Amazon as well as the book he mentioned, “The Tangled Tree: A Radical New History of Life” by David Quammen.If you are interested in joining a genetic counseling book club check out Book Zebras! Their April book is Resurrection Lily by Amy Byer Shainman who I interviewed back in episode 25 of the show.If you enjoy this show, you might also be interested in the other healthcare podcasts I host and produce, Advancing Dentistry Podcast and Insight Says: A Mental Health Podcast. They are both monthly podcast where I interview experts in their respective fields.Stay tuned for the next new episode of DNA Today on May 3rd, 2019. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Two leaders from the Coriell Institute for Medical Research join the show to discuss biobanking. Nahid Turan, Chief Laboratory Officer, and Alissa Resch, Chief Scientific Officer, lead separate aspects of the Institute scientific efforts.Coriell is known for its impact in the world of biobanking. If you’ve ordered biological materials in the past for research, there’s a good chance you’ve ordered from them before. In its 65 year history, Coriell has partnered with many federal, private and nonprofit organizations, offering expertise in the collection, processing, storage and distribution of biological materials, and in the process built one of the most diverse and important collections of biomaterials in the world. It’s because of their collection that endeavors like the Human Genome Project were possible and that the science of personalized medicine thrives today.On This Episode We Discuss:Definition of Biobanking and ProcessSample Tissue and Species TypesNumber of SamplesDisease RepresentationApproach to Finding Specific SamplesResearch Access and ShipmentOrganizations, Institutions and Projects SuppliedIncluding the Human Genome Project and the 1,000 Genomes Project!Managing Big Bio DataTo learn more about Coriell head over to their website, specifically their biobanking page. Stay updated with their latest news by following them on Twitter.Stay tuned for the next new episode on April 5th, 2019. This will be the 100th episode of DNA Today! To celebrate I interview Carl Zimmer, a popular science writer for the New York Times and has also contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize Among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm and his latest, She Has Her Mother’s Laugh which we will be discussing on next month’s episode. So tune back in on April 5th to hear the interview!New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Any questions/inquiries are welcome and can be sent to info@DNApodcast.com.

To celebrate and honor Rare Disease Awareness month (February) Lydia Seiders joins me on the show. She is a volunteer Maryland State Ambassador for NORD, the National Organization for Rare Disorders, through NORD’s advocacy arm the Rare Action Network. Her daughter was diagnosed with aplastic anemia, a form of bone marrow failure. This motivated Lydia to become an Ambassador for NORD. In this role, she leads about 200 network members across the state to raise awareness for approximately 600,000 patients affected by a rare disorder. Lydia leads educational initiatives and develops state-based campaigns to increase patient awareness. She partners with advocates nationwide to act on policy impacting the rare disease community.Lydia also works closely with the Aplastic Anemia and MDS International Foundation and the national bone marrow registry - Be the Match. She assists patients and families globally obtain reputable resources for bone marrow failure. Most recently she began collaborating with RARE Revolution Magazine, a dedicated free rare disease publication. She will help to share in the direction of the Rare Revolution movement.On This Episode We Discuss:Her daughter, known as #EmmaStrong, diagnosis of aplastic anemiaDiagnostic journeyAplastic anemia symptoms and causeNIH’s role in Emma’s treatmentCurrent research for aplastic anemiaLydia’s role as a state ambassador for NORDEducational initiatives and campaigns for the rare disease communityNORD’s resources for parents and caregiversAdvice for parents and caregivers of a loved one with a rare diseaseResources Mentioned During The Show:National Organization for Rare Disorders (RareDiseases.org)RareAction.orgWhen signing up, their system will link you to your state’s RAN by your zip codeThe Aplastic Anemia and MDS International FoundationMaryland’s Rare Action Network Facebook PageRAN is active in all 50 states, listeners can find their state to get involvedBe The Match (Emma’s Page)Learn how to join the bone marrow registryLearn more about Emma in this blog post part 1, part 2 and part 3. Stay updated with Lydia by following her on Twitter and connecting with her on LinkedIn.Don’t forget to raise awareness this month (and every month) for rare diseases, especially on Rare Disease Day which is on Thursday, February 28th 2019.Stay tuned for the next new episode of DNA Today on March 1st. New episodes are released on the first Friday of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries for my guest, Lydia Seiders, or myself can be sent to info@DNApodcast.com.Don’t hesitate, we love hearing from listeners.

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful!On This Episode We Discuss:Overall Application TimelineSchools Applied vs Interviews Invites ReceivedPreparation Strategies for InterviewsA Typically Interview Day ScheduleTypes of Interview QuestionsMethods to Keep Track of Schools/InterviewsHow the Match System WorksFactors Used to Assess and Rank ProgramsReasons for Our Number 1 PickMatch OutcomesThe PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast. Kira is the Communications Lead at My Gene Counsel, a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her acceptance into the Master of Genetic Counselling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counselling to Prince George, and serving the northern communities of British Columbia.Stay tuned for the next new episode of DNA Today on February 1st. As announced last month, the updated 2019 release schedule is new episodes on the first Friday of every month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Don’t forget to check out the first part of this conversation in episode 87 where we discuss how to gather the experience and classes to have a competitive application.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you! Don’t hesitate, we love networking with fellow future genetic counselors. We look forward to seeing some of you at your interviews!

Jim Cavan, CEO and President of Backpack Health is featured on this episode. He has great passion for helping healthcare companies tackle systemic problems, and 20 years of executive health research and startup leadership experience. The development of Backpack Health is the result of several key goals of his, including improved access to and control of medical information, and less obtrusive collection of research data.Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. The Backpack Health mission is to empower patients by making it easy for them to access, own and control all their health information to support better health for themselves, their loved ones and their communities. Just like a real backpack, the portable, multimodal, multilingual app allows users to carry around what matters most – their personalized, comprehensive medical information and documents – in one central location. Backpack Health also provides a platform for organizations to engage patients, collect up-to-date data and build communities around the globe.On This Episode We Discuss:How Backpack Health StartedJim’s Role at Backpack HealthBackpack Health’s Services for Patients and CaregiversSpecific Groups to BenefitLanguages and Countries CoveredHow Users Can Access and Edit Their InformationData Security and SharingBackpack Health’s Role In ResearchPatient Advocacy and ResourcesLearn more on Backpack Health’s website and stay updated with them on Twitter, Facebook, and Instagram.Stay tuned for the next new episode of DNA Today on January 4th, 2019. This episode is part 2 of the discussion about the genetic counseling graduate school application process. In part 1 on episode #87 we discussed preparing for applications, how to apply to programs, and general advice. We also surveyed over 50 incoming students to capture more insight. I will be joined by the same panel of guest who are fellow genetic counseling students and we pick up where we left off by discussing the second half of the application process: interview, rank, and match.The show will be shifting to a new release schedule for 2019 by releasing episodes on a monthly basis on the first Friday of every month.See what else I am up to on Twitter, Instagram, Facebook and iTunes. As always it’s great to hear from listeners, so feel free to send your questions and inquiries to info@DNApodcast.com.

Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis.Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer.This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants.Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation.Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine.Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person.You can also buy the book directly on Amazon. Learn more about the Keiger family on Laura’s website. Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram.Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health, Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys.New episodes are released on the first and third Fridays of the month. Can’t wait? There are 94 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria. He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria.This Episode We Discuss:The Premise of Legend of SumeriaInspiration to Start the Graphic NovelAutoimmunity on the Molecular/Genetic LevelConveying Scientific ConceptsThe Current and Future Science Behind Legend of SumeriaGenetic PrivacyFuture of Gene TherapyBioethical Issues Raised in Legend of SumeriaTeam Behind the Graphic NovelBe sure to check out the graphic novel on their stunning website. Follow them on Twitter and Instagram. Don’t forget to enter the giveaway on their Instagram by commenting on the latest picture what you found interesting on this episode. The first five to follow and comment will win a complementary copy of Legend of Sumeria!Stay tuned for the next new episode of DNA Today in two weeks. The date to be determined as the normal release date overlaps with the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first and third Fridays of the month. Can’t wait? There are over 90 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers.Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader.Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. She serves as a Medical Advisor for Team Telomere.Dr. Suneet Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He is currently an Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal's research and clinical work is focused on the mechanisms and treatment of genetic blood disorders. He leads a multi-center bone marrow transplant clinical trial for dyskeratosis congenita, and his lab is working on new therapeutic approaches for telomere diseases. He also serves as a Medical Advisor for Team Telomere.This Episode We DiscussKatie’s Son’s Diagnostic JourneyDyskeratosis Congenita and Telomere Biology DisorderPrevalenceSymptomsAge of OnsetAssociated GenesDiagnosis ProcessTreatmentsLatest ResearchHow Team Telomere Helps Affected FamiliesBecoming a Bone Marrow Donor > BeTheMatch.orgStay tuned for the next new episode of DNA Today on November 2nd, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are over 90 episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&M University and the University of Pittsburgh Center for Pain Research.This Episode We DiscussThe Role Genetics Plays in our Experience of PainWhy People have Differences in Pain ResponsesGenes and Pathways Involved in PainEnvironment Factors Affecting Pain SusceptibilitySomatic vs. Visceral Pain BehaviorsPain Mechanisms Behind Inflammatory Bowel Disease (IBD)Animals Models Used and Translating Findings to Human PainOpportunities for Integrating Genetic Analysis into Precision Healthcare InitiativesTo learn more about Dr. Erin Young, check out her profile on UCONN’s InCHIP and School of Nursing website. Dive more into her research explore painresearch.uconn.edu and read one of her publications on the topics we discussed, “Genetic Basis of Pain Variability: Recent Advances”. To stay updated with Dr. Young, check out her LinkedIn and Twitter profiles.Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 90 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Ellen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine.Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health.As genetic testing became more common and also more complex, she has served as the senior author on several publications since 2010, all documenting errors in the interpretation of genetic test results, from all over the US and Canada. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. These tools are scalable, affordable, are available to the consumer immediately, and on their own device, and - importantly - when your genetic test results are reclassified, or medical management recommendations change, you receive a text message or email.Disclaimer, I (host Kira Dineen) also work for Ellen at My Gene Counsel as the Communications Lead.On This Episode We Discuss:Defining direct-to-consumer (DTC) testsTypes are available to consumersDifference between medical grade and DTC genetic testsAccuracy of DTC genetic testsWhat to know before choosing a DTC testExamples of when a DTC test may be more appropriate than a medical grade test and vice versaWhy healthcare providers can’t afford to ignore DTC anymorePotential implications of sending a sample to a DTC companyBenefits of signing up for My Gene CounselCheck out My Gene Counsel’s website, Twitter, Facebook and LinkedIn pages for more information.Stay tuned for the next new episode of DNA Today on October 19th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC). She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical & Business Development for Geisinger National Precision Health.This Episode We Discuss:Elevator Pitch of Genetic CounselingRamos’ Career BackgroundGoal of NSGCRamos’ role as President of NSGCBiggest Challenges in the Genetic Counseling Field2018 NSGC Professional Status SurveyExecutive Summary Available to Public94% of GCs who took part in NSGC’s 2018 professional status survey reported being satisfied with the profession.An average full-time GC earns a salary of $88,000 USD.There are over 4,600 certified GCs in North America, this is an increase of 95% compared to the number just 10 years ago in 2008.There are 43 accredited graduate level training programs in North America.Growth rate of the career between 2016-2026 is 29%, the average for all occupations is 7%.2017 NSGC Member Benefits, Needs and Satisfaction SurveyAnnual NSGC Conference, November 2018 in Atlanta, (See you there!)Resources NSGC ProvidesFindAGeneticCounselor.comAboutGeneticCounselors.comGenetic Counselor and You Webinar SeriesNSGC Podcast Series: Leading Voices in Genetic CounselingNSGC Digital Ambassadors (aka The Gene Pool)Twitter List with all of us listedFor updates from Erica Ramos, follow her on Twitter. And explore some of the resources above that NSGC provides the public.Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 89 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at info@DNApodcast.com.

Dr. Andrew Ury is the CEO and Founder of ActX, one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner. He is also the co-founder of one of the leading practice-based research networks, PPrNet. Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School.This Episode We Discuss:Definition of Electronic Health Records (EHRs)EHRs History, Evolution and FutureDr. Ury’s Perspective as a Founder of the TechnologyCurrent EHR Methods and SystemsActX’s Role in Integrating EHRs in Genomic Decision SupportDirect-To-Consumer (DTC) Genetic TestingFocused vs Broad ScreeningFDA Regulation on DTC Genetic TestingPharmacogenomics and TestingFuture Predictions of Integrated Personalized Medicine and Patients’ RoleWant to learn more about ActX? Check out their website, Facebook page, and Twitter account.Stay tuned for the next new episode of DNA Today on September 21st. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 88 other episodes to explore in the meantime.See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Ira S. Pastor is the CEO of Bioquark, a life sciences company, developing proprietary combinatorial biologics for the regeneration and repair of human organs and tissues. Ira has over 30 years of pharmaceutical experience. He serves as a board member at multiple companies and organizations including RengerAge, the Reanima Project, The World Academy of Medical Science and the World Economic Forum’s Human Enhancement.This Episode We Discuss…Regeneration and repair of human organs and tissuesNatural regenerative capability of humansEffect of agePotential role of telomeraseBioquark’s area of focus in regenerationConditions that could potentially benefit from regeneration researchGenetics role in regenerationResearch on animals regenerative abilitiesGrowing organs outside the human body and its impact on the organ donor systemSomatic reversion and how it differs from other gene therapiesLearn more on Bioquark’s website and stay updated by following them on Facebook.Stay tuned for the next new episode of DNA Today on September 7th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching.We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful!The Incoming Genetic Counseling Student PanelKira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She is the Communications Lead at My Gene Counsel, a digital genetic counseling company. Kira is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. Kira is excited to be in Sarah Lawrence College’s Genetic Counseling Class of 2020.Brynna Nguyenton will be a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi.Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach.Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her recent acceptance into the Master of Genetic Counseling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counseling to Prince George, and serving the northern communities of British Columbia.On This Episode We Discuss:Overall Application TimelineCost of our Application ProcessesPreparation for Applications & Helpful ResourcesPrerequisites, Extracurricular Activities & Recommended ExperiencesFinding Genetic Counselors to ShadowWriting the Personal StatementsLetters of Recommendation: How Many to Request & Who To AskDifferences Applying as an International Student (Outside US)Deciding Schools: Features to Focus on & Number to Apply toStay tuned for the next new episode of DNA Today on August 17th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes.Questions/inquiries about the application process for the four of us can be sent to info@DNApodcast.com. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you!

Dr. Michael Fossel is the world’s foremost expert on the clinical use of telomerase for age-related diseases. In 1996, he wrote the first book on the telomerase theory of aging, Reversing Human Aging, and has published the sole medical textbook on the topic. Most recently he published The Telomerase Revolution which was named one of the five best science books of the year by the Wall Street Journal.Dr. Fossel earned his PhD and MD from Stanford University, where he taught neurobiology and research methods. He has lectured at the National Institutes of Health and the Smithsonian Institution and has appeared on Good Morning America, CNN, BBC, and NPR among others. He is currently working to bring telomerase to human trials for Alzheimer's disease with his company, Telocyte.On This Episode We Discuss…Telomere theory of agingAge related diseases telomerase potentially prevent/treatTelomerase product effects on cancer preventionCommon misconceptions of agingChanging public perspective on the potential of reversing agingRole of family history in longevityRecent aging/telomerase researchCRISPR’s use with telomeraseScientifically validation of current anti-aging productsLearn more on Michael Fossel’s website. I also recommend his book, The Telomerase Revolution.Stay tuned for the next new episode of DNA Today on August 3rd, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist, matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria.On This Episode We Discuss:Skype A ScientistEffect ways to communicate scienceDifferences between squid species, which ones Sarah works withSquid research goalsThe symbiosis relationship between the squid and bacteriaSquid’s blood, microbiome, and immune systemSarah’s inspiration to pursue a squid research careerAdvice/resources for students interested researchSarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and really everything cephalopod related. She also has a Tumblr, Youtube page and website for even more information.Stay tuned for the next new episode of DNA Today on July 20th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future.J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller.Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health.On This Episode We Discuss:The genetics thriller novel Biohack and the bioethical issues it raisesPotential scientific advances with CRISPR technologyThe bioethical implications of those advancementsWhich countries these advances are most likely to occurThe bioethical debate change between PGD embryo selection and CRISPR edited embryo, prior to in vitro fertilizationPotential restrictions on which genes can be manipulated, disease related vs physical traitsWant to delve further into the bioethics of CRISPR? Check out this article from guest Dr. Katie Hasson about designer DNA not being just for designer babies. Another interesting article that complements our discussion in the podcast is Nathaniel Comfort’s “Can We Cure Genetic Diseases Without Slipping Into Eugenics?” Intrigued by our conversation about a child having three biological parents (this is not science fiction) Leah Lowthrop wrote articles about the impact in the fertility industry and the slippery slope this technique could become. Genetics and Society has many more articles to explore!If you are one of the first ten people to sign up for JD’s J.D.’s Best of Indie email list you will receive a free copy of the “Biohack” ebook plus the Hacked Celebrity Files, a full-color PDF outlining Hollywood celebrities and historical figures targeted by the biotech company in the novel. Can’t wait to see if you have won? Buy the book on Amazon for $1 or read it for free through amazon Kindle Unlimited.Be sure to give both J.D. Lasica and Genetics and Society a follow on Twitter.Stay tuned for the next new episode of DNA Today on July 6th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more”.Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing.On This Episode We Discuss:Hereditary component of Alzheimer's DiseasePrevalence of Alzheimer’s Disease in the populations and how many people affectedTreatment options for people with Alzheimer’s DiseaseGenome Cure Organization’s efforts to make a difference in the Alzheimer’s DiseaseRecent research published about Alzheimer'sThe process of researching new treatments and a potential cureLength of phasesFunding requiredKey players/institutions in the researchCurrent clinical trialsWays the public can get involvedLearn more about Genome Cure Organization on their website and Instagram.Stay tuned for the next new episode of DNA Today on June 15th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases.On This Episode We Discuss:Whole genome sequencing (WGS) vs exome sequencingQualifications for patient to receive WGSNext steps after a “negative WGS”Value of WGS for patients not seeking a diagnosisHero fund to help families afford testingPredictions of the future use of WGSGenetic counselors role at the clinicApproach to explain testing to patientsNext steps for an untreatable/incurable diagnosisInteresting case studiesIncidental and secondary findings from WGSDr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare undiagnosed or misdiagnosed disease, and are considering genetic testing - specifically, whole genome sequencing.Carol Aiken is a certified medical practice administrator with the Professional Association of Healthcare Office Management (PAHCOM). She has over 30 years of medical practice administration experience across multiple physician practice specialties and hospitals.Meagan Cochran is a board-certified genetic counselor with clinical experience in pediatrics, adult medicine and genomics. As one of the genetic counselors at Smith Family Clinic she works with patients and families to understand the role of genomic medicine in healthcare and help them to incorporate this new information into their decision making processes.Follow Smith Family Clinic on Twitter, Facebook, Instagram, and visit their website for more information.Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions.On This Episode We Discuss…Deciding to pursue genetic testing and resultsQualifications for having a strong family history of ovarian, breast and/or prostate cancerThe risk of passing on a BRCA mutation to a childMales inheriting gene mutationsGenetic counseling process and experienceCancer development risk level for people who have BRCA gene mutationsBeyond BRCA, additional gene mutations that increases one’s risk for developing cancerOptions for preventing and monitoring cancerRecovering from breast cancerSupport systems availableGetting involved in the patient advocacy communityBRCA community terms (previvor, mutantvivor, etc.)Advice to those with family history of cancer and those who have a BRCA mutationCheck out Irina’s Instagram, Facebook page, and Facebook group for women in the hereditary breast and ovarian cancer community with mutations (BRCA etc.). She also shares her journey on her website’s blog.Stay tuned for the next new episode of DNA Today on May 18th, 2018.New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage. MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest, is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits. Learn more on MyHeritage's blog.  On This Episode We Discuss:-How the project started-Who is eligible and how to apply for this free testing-What is required for the testing-The timeline of the project-The number of people who find their biological relatives through MyHeritage-Information provided in the MyHeritage results-New updates and innovations from My Heritage Don’t forget that April 25th is DNA Day! Check out my episode all about the history of the day and other fun facts.Stay tuned for the next new episode of DNA Today on May 4th, 2018 where I will be interviewing patient advocate Irina Brook about her BRCA2 mutation and hereditary breast cancer.New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta. On this episode we discuss…The number of microbes in inside us and how they help usFactors/technology that impacted the start of this new fieldDifferences between studying the human microbiome and genomeTechniques/technologies used to study the microbiomeHuman Microbiome ProjectHealthy microbiomesFactors that affect microbiomesVariations between people’s microbiomesMicrobiome researchRole of a bioinformatics analyst in microbiome research Learn more about the microbiome through the University of Utah’s free interactive modules. You can follow Bibaswan on Twitter @bibaswanghoshal  and read his blog at worldofbiba.wordpress.com. Check out the books Bibaswan recommends during the episode: Brain Maker by Dr. David Perlmutter and I Contain Multitudes by Dr. Ed Yong. Stay tuned for the next new episode of DNA Today on April 20th, 2018 where I will be interviewing Rafi Mendelsohn about a free DNA test for adoptees and biological families to be reunited. It's offered through April through MyHeritage's DNA Quest. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com

 My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.  On this episode, we discuss…Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTipsHow clinicians/researchers use electronic health records Future of electronic health records in healthcareImportance of open-source databases Research on Diffuse Intrinsic Pontine Glioma (DIPG) You can follow Dr. Pawel Buczkowicz (@pbuczkowicz) and Gene42 (@gene42inc) on Twitter. Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram(@DNAradio), Facebook (@DNApodcast) and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research."This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state. A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases.   A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader! Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode.  There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself. Jean Kelley also spoke as a patient advocate. Her son Brian has a rare neurological disease called Adrenoleukodystrophy (ALD) for which she started an organization, Brian’s Hope. She shares more during her interview in this episode. Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. It takes 2.5 billion dollars and 12 years to develop a drug, so we need to give tax credits to companies so they have incentive to come to Connecticut for their research, which then helps the state. It’s fantastic that an event like this can bring legislators into the conversation so we can take action to help families with rare diseases. For more information about Rare Disease please visit NORD’s rarediseases.org and check out the other episodes about rare diseases including previous Rare Disease Days.

To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute. There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative. She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC). Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syndromes (SADS) Foundation on their important advocacy work, research, and medical education programs.  On this episode, we discuss…..Roles of a cardiovascular genetic counselorInherited cardiovascular diseasesFamilial HypercholesterolemiaLong QT SyndromeRed flags for an inherited cardiovascular disorder in a family historyGenetic testing including the cascade screening methodPreventative treatments for patients with a positive testingImportance of testing childrenNotifying at-risk relatives of patients  To learn more from Amy, follow her on Twitter and read a few of her blog posts below: Am I at Risk for Heart Disease?Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About Curious about the patient perspective in cardiac genetic testing process with a genetic counselor? One of her patients also wrote about his genetic testing experience guided by Amy. Stay updated on new episodes and activities of DNA Today via Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.

We are kicking off Rare Disease Month, which leads up to Rare Disease Day (February 28th, 2018). My guest is Eden Lord, Co-Founder and CEO of My City Med. The company is an online health and medical resource site that allows patients to search for a doctor and read reviews, and also connect with non-profit resources and online community support groups. On the show, Eden explains how both patients and physicians can benefit from My City Med’s services and resources. She also provides insight into creating MobiMedQR.com a service that allows patients/caregivers to create a medical profile accessible through QR codes. My City Med and MobiMedQR were inspired by her own family’s needs to navigate the healthcare system. Eden is a mom to kids with rare diseases and during the episode, she shares her role as a caregiver and the journey her family has been through. She is also an advocate pursuing legislation to advance rare disease research. Attend a Rare Disease Day 2018 event! If you are in Connecticut, join me at the two events. The first is Quinnipiac University’s event on their North Haven Campus on 2/27 at 1 pm or an event in Hartford on 2/28 at 8:30 am in the Legislative Office Building. Not in Connecticut? Find a local Rare Disease Day event here.

After having a family history of Huntington's Disease, Antonio Maltese was pre-symptomatically genetically diagnosed with the disease himself. This diagnosis has motivated Antonio to become a fierce patient advocate with big plans to change the future of people with Huntington’s disease. Huntington’s Disease is progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. This neurodegenerative disease is caused by an excess of CAG repeats in the Huntingtin gene (HTT). Unaffected people have this DNA sequence repeated 10 to 35 times. Those that may be affected have 35-39 repeats and those with over 40 repeats will develop Huntington’s Disease. This disease is inherited in an autosomal dominant pattern, meaning if a parent has Huntington’s Disease their child has a 50% chance of inheriting the disease. Antonio shares about his paternal grandmother who had Huntington's Disease and why he decided to pursue genetic testing. The biggest breakthrough in neurodegenerative diseases for 50 years recently occurred, 46 patients had their Huntington genes silenced at the University College London as part of a research study. Antonio I and discuss the impact this could have on Huntington's Disease and other neurodegenerative diseases. Antonio shares the resources he has benefited from including HDBuzz and the blogs where he has collected his research for others: huntingtonsinitiative.blogspot.com and chuffed.org. Don't forget to follow the show on Instagram, Twitter, and Facebook!

Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results. In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting. Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how much research is needed to support a classification and what a patient can do with this information. Variants of Unknown Significance (VUS) can pose a challenge when interpreting this data.If you would like to hear/read more from Jenna, check out her Twitter and LinkedIn page. She also welcomes student contact and can be found on FindAGeneticCounselor.com along with many other genetic counselors for both students and patients.

Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX.  This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital, Harvard Medical School, which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program. Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN). If you are interested in finding a genetic counselor as a patient or student, go to findageneticcounselor.com or aboutgeneticcounselor.com to learn more about the field. Stay updated with Megan on Twitter and LinkedIn. And don’t forget to follow my new account on Instagram, @DNAradio.

Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics, a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, where she also received her M.S. in Human Genetics We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, counseling), and letters of recommendation. She provides an overview of what a typical interview day looks like at Sarah Lawrence and more information on what the Sarah Lawrence genetic counseling program specifically provides students. She also talks about her background as an English major, why she pursued genetic counseling and continues to love the profession. Here’s a complete list of all the accredited genetic counseling graduate programs in North America. Students can also find genetic counselors to job shadow and interview at FindAGeneticCounselor.com. Stay updated on Eleanor’s private practice on Instagram, Twitter and Facebook. And don’t forget to follow my new account on Instagram, @DNAradio.

Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases. Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines. If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram. 

“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin. James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases. Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing. Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications. An announcement/reminder that the first Genetic Counseling Awareness day will be on November 9th. Follow activities with #IAmAGeneticCounselor and on National Society of Genetic Counselor’s website.

Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer. The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd. Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter.

Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”. To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook.

Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.

Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.

Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too!

Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing.

Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders, http://www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte Keith is a Clinical Cytogeneticist from Edinburgh, Scotland. She works for the South East Scotland Genetics Service, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.

Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on  pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine. 

Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering.

Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care.

Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact.

Patient advocate, Georgia Hurst, shares about the hereditary cancer syndrome that she has, Lynch syndrome. It is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. Georgia shares about her journey with Lynch syndrome from genetic counseling and genetic testing to find her mutation to risk reducing surgeries and how it has altered her life. New research and treatments in the hereditary cancer syndrome community is also Genetic counselors are important in guiding patients through genetic testing. Genetic counselors are valuable resources for helping patient learn about what hereditary cancer syndromes they may have and information for risk reducing surgeries. We highlight the difference between people practicing genetic counseling and certified genetic counselors. Georgia Hurst is a Lynch Syndrome Advocate, with her roles as Founder and Executive Director of the nonprofit, IHaveLynchSyndrome.com, a fantastic resource for people to learn about Lynch syndrome and read personal blog posts by Georgia on her experiences. Georgia has Lynch syndrome which is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. She is a stakeholder in the National Academy of Sciences: Genomics and Population Health Action Collaborative. Her mission is to educate doctors and the public around the globe about Lynch syndrome.

Genetic counselor Brianne Kirkpatrick discuss family health history in honor of November being it’s awareness month, what the public should know about direct-to-consumer tests, how ancestry genetic testing works, and insight on running a private practice. Brianne Kirkpatrick, is a licensed and certified genetic counselor with more than 11 years of experience. She is a member of the National Society of Genetic Counselors, International Society of Genetic Genealogy, and the National Genealogical Society. She has her own private practice, WatershedDNA, where she offers clients her expertise in medical genetics and counseling to provide support and information to those seeking DNA testing for genealogy and health purposes. Brianne received her Bachelor’s in Biology and Religious Studies at Indiana University followed by a Master’s in Genetic Counseling at Northwestern University.

Sharon Begley presented at UCONN about the invention and evolution of the CRISPR-CAS9 technology. After the event she joins me on the show to discuss how CRISPR technology is making huge advances in research with HIV/AIDS, sickle cell disease and more. We discuss how CRISPR compares to other genetic editing technologies and why it has become so universal. Sharon Begley, is a science communicator and is the senior science writer at STAT, the life sciences publication of the Boston Globe. Sharon Begley was previously the senior health and science correspondent at Reuters, the science editor and the science columnist at Newsweek, and a contributing writer at the magazine and its website, The Daily Beast. She is the co-author of the book, The Emotional Life of Your Brain. Another UCONN event is discussed in this episode, Environment, Epigenetics and Cancer: How to Cultivate the Connections. I highlight points from Dr. Mary Beth Terry’s keynote presentation, “Breast Cancer Susceptibility: Rethinking the role of the environment and methods to improve risk assessment” including risk factors for breast cancer and the models used to calculate this risk. Panelist at the event who accompanied Dr. Terry on stage are Dr. Gary Lee Ginsberg, a toxicologist for the CT Dept of Public Health, Ellen Matloff, a certified genetic counselor and President of My Gene Counsel, and Dr. Christina Stevenson, an oncologist at UConn Health. Panel Moderators: Dr. Robert Henning, CPH-NEW Investigator and Dr. Judy Brown, Director Diagnostic Genetic Sciences Program and Health Care Genetics Professional Science Master's Degree Program. I discuss the major topics brought up by the audience along with the panelist responses.

Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel will discuss advances in risk assessment, implications of scientific discoveries, epigenetic biomarkers and technological advances in screening, diagnosis and treatment of cancer as well as provide feedback about the public and patient perspective. Gene Editing: The CRISPR Revolution October 26th, 2016 at 6pm in the Dodd Research Center f UCONN Storrs, CT. Keynote speaker, Sharon Begley, the the senior science writer at STAT, the life sciences publication of the Boston Globe will be discussing the invention and evolution of the CRISPR-CAS9 technology. It seems as if the possibilities for CRISPR are endless: drought–resistant crops, disease resistant livestock, new drugs and a cure for cancer. How does this technology work? What are some of the current explorations of the gene editing technology? What are the limitations and the risks of its use? What ethical conversations need to be had by science, the public, policymakers? Prader-Willi Syndrome: New Epigenetic Findings and Potential Routes to Therap November 4th, 2016 at 2pm in the Henry B.C. Low, M.D. Learning Auditorium at UCONN Health in Farmington, CT. The keynote speaker will be Marc Lalande, Ph.D., Health Net Professor and Chairman from the Department of Genetics and Genome Sciences, UConn Health.

Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers (1-860-679-6199 for CT), her role as a genetic counselor, her expertise of the impact of the Zika Virus on pregnancy, the recommendation of flu shots for pregnant women, the effect of drugs on pregnancy, and October being Pregnancy and Infant Loss Awareness Month. Ginger also offers her insight into becoming a genetic counselor.  Ginger Nichols is a certified genetic counselor. She currently works for MotherToBaby CT, which is housed at UCONN Health in the Human Genetics department. Previously she worked in cytogenetic laboratories, taught undergraduate biology/genetics, and counseled adults with Down syndrome and other genetic disorders. She received her bachelor’s in Biology and Sociology at Juniata College followed by a Master’s in Medical Genetics at the University of Cincinnati. If you want to find a genetic counselor in your area, please go to nsgc.org, there you can find a search feature that allows you to locate a genetic counselor near you or genetic counselors that offer phone session. To learn more about the field check out NSGC's new website, aboutgeneticcounselors.com. 

September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month.  "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and she has made it her mission to fight for CMT. To check out the Hereditary Neuropathy Foundation’s Patient-Centered Charcot-Marie-Tooth Summit you can visit the webpage.  Follow Bernadette and the Hereditary Neuropathy Foundation on social media to stay updated on Twitter (@BernsLife13 and @CMTNeuropathy), Facebook (@BernsLife and  @Bernadettecmtmovie).

Nevena Hristozova joins me on the show all the way from Brussels! She is in the field of research working with chaperones - stress related proteins, in plants under unfavorable environmental conditions. Nevena maps the molecular interactions of those proteins and their client proteins. We discuss the relationship between chaperons and plants, different types of stress related proteins, chaperons in humans and GMOs. She started her education in Biotechnology in her home country of Bulgaria, then moved to Helsinki for a master's degree in Natural resources, and is now last year PhD student in the Flemish Institute for Biotechnology in Brussels. Nevena's been working on molecular mechanisms of plant resistance and protection against pathogens and environmental conditions. You can check out her blog and follow her on Twitter at @NHristozova.

Dr. Fan explains what plasmids are, highlights cool genes that are inserted into plasmids and how Addgene's plasmid repository works.

Prenatal genetic counselor Brittany Gancarz talks about the field of genetic counseling, busts a few genetic counseling myths and announces a new genetic counseling program in Connecticut! She shares her expertise on genetic testing, what patients can expect during a prenatal genetic counseling appointment, and gives advice to students who are pursuing genetic counseling. Brittany Gancarz graduated from Sarah Lawrence College with a master’s of science degree in Human Genetics. She is a genetic counselor and a clinical instructor in UCONN Health’s Genetics and Developmental Biology department.

Dr. Ellen Elliott discusses her research of lncRNAs in TH2 cells and asthma. One of the technologies she uses to study this is CRISPR, a genetic editing technology. CRISPR has hit the mainstream media fast, it was recently featured on the cover of TIME magazine. Dr. Elliott also gives us a sneak peak at Jackson Laboratory’s new blog series. Dr. Ellen Elliott is a Postdoctoral Associate in Adam Williams’ lab at the gorgeous Jackson Laboratory Genomic Medicine in Farmington, CT. Dr. Elliott is studying the function of long non-coding RNAs in TH2 cells and asthma. Her results will hopefully generate lncRNAs that could be used as therapeutic targets or in diagnostic tests. Dr. Elliott graduated from Indiana University with a BS in Biology and a BS in Neuroscience. After she graduated from the University of Pennsylvania with a PhD in Cell and Molecular Biology.

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Sharon Turcotte did research on lncRNAs with Williams Lab at the Jackson Laboratory for Genomic Medicine. She teaches us what a lncRNA is, its function in gene expression, diseases lncRNAs have been associated with, using the CRISPR-Cas system and her advice for students joining the biotech industry. If you want to learn more about RNAs, check out the database RNAcentral.org. You can also read more information about Williams Lab.

National DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. NHGRI began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. Check out NIH's director, Francis Collin's AMA on Reddit, the Harry Potter and the Genetics of Wizarding webinar and the tweetchat #DNADay16 archives. To celebrate on the show, I talk about what DNA is, the history of humans discovering new aspects of DNA, the fun events you can take part in and careers that all relate to DNA. Any questions about DNA Day and it’s events can be direct to dnaday@nih.gov. You can learn more on their website, https://www.genome.gov/10506367/national-dna-day/.

The Hole in the Wall Gang Camp is dedicated to providing “a different kind of healing” to seriously ill children and their families throughout the Northeast, free of charge. It’s a community that celebrates the fun, friendship and spirit of childhood, where every kid can “raise a little hell.” Former camper and current camp counselor, Ester Wasserman shares the magic of camp, how it was founded, what it offers campers and her own experience through the years.

CRISPR is a genetic editing technology that will change the future of genetics. In the past 3 years it has been used in labs throughout the world. It has the potential to fix point mutations and larger mutations in our genome. Diseases caused by point mutations include Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sachs disease. More complex conditions such as cancer, HIV or autism could be cured if the RNA gene editing is developed further. On March 16th, 2016, it was published that RNA was successfully targeted for the first time. This is just the beginning of CRISPR. Listen to hear how CRISPR works and how it was discovered. Get the inside scoop on the current research, ethics, politics, and patents.

March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25!

Jackson Laboratories held The Bioscience Career Forum II: Women in Biosciences on March 11, 2016 at it's newest location on UCONN Health’s campus in Farmington, CT. The Forum centered on recruiting and retaining women in the biosciences. Women leaders in the bioscience industry discussed what it takes to enter Connecticut's most rapidly developing sector. Topics included equalizing the the gender gap in the biosciences, vital skill acquisition and training, the importance of networking and finally, how to land job. Speakers included.... Ellen Matloff is the former director of Yale's Cancer Genetic Counseling program and current CEO and president of My Gene Counsel. Her keynote address focused on society’s impact on girls and women pursuing careers in the biosciences. Dr. Albert Cheng, Assistant Professor, JAX-GM, presented on CRISPR –Cas9 Genome Editing Technologies. A panel of women in the bioscience field discussed being a women in the field and answered students questions. Dr. Susan Mockus, Manager, Clinical Analytics and Curation, The Jackson Laboratory for Genomic Medicine Dr. Espy Anguiano, Senior Manager, Genome Technologies Operations, The Jackson Laboratory for Genomic Medicine Dr. Kimberly Dodge-Kafka, Associate Professor, Department of Cell Biology, UConn Health Dr. Barbara Kream, Professor of Medicine and Genetics & Genome Sciences, and Associate Dean of the Graduate School, UConn Health Moderator: Melanie Sinche, M.Ed., NCC, Director of Education, The Jackson Laboratory for Genomic Medicine.

February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd. Join the rare disease tweetchat March 1st, 2016 at 1pm ET using the hashtag, #abcDRBchat.

Dr. Caroline Dealy returns to the show to discuss the UCONN-TIP (Technology Intern Program). She is the founder and director of the program. UCONN-TIP pairs UConn students with university start-up companies for mentored research internships in business or STEM. She shares what kind of research experience can students anticipate and how it can help in your career. You can read more about the program and apply. Submit your application soon, the deadline is March 7th, 2016!

On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum, that only shows up at a rate of one in a million in the general population however on the Navajo Reservation they live on where the frequency is 1 in 20,000.

In his book, Misha Angist takes you through his experience as the fourth subject in the Personal Genome Project, George Church’s ambitious plan to sequence the entire genomic catalog: every participant’s twenty thousand–plus genes and the rest of his or her six billion base pairs. He shares his thought process on deciding to be a participant and contemplates the advantages and disadvantages. This journey takes you through Angist discovering his variants and what disease he was at a higher risk for.

Rebecca Skloot, best-selling author, has published an article, "Your Cells. Their Research. Your Permission?", in it she urges the public to voice their opinions whether permission should be required by scientists to use people's cells for research. She poses the following questions for the public to comment on on a government website, but do it fast because it closes January 6th, 2016. “Should scientists have to ask permission to use all leftover clinical samples? Would you say yes? Is broad general consent enough, or do you want options for more control? Why? Should this apply to both tissues and genetic information, anonymous or not? And what if this slowed scientific progress?” Need more information to form your opinion? Check out this one page summary and videos from the Department of Health and Human Services.

I recap the UCONN BRCA event I MCed. It featured a panel of experts including a Certified Genetic Counselor (Robin Schwartz, featured below), members of the department of Public Health Genomics Advisory, Physicians and Cancer survivors. There was an interactive presentation about family history tool, education, and cancer genomics best practices. There was a discussion with medical personnel and patients about identifying risk factors for hereditary breast and ovarian cancer, genetic testing, how to find qualified genetic personnel, sharing a BRCA diagnosis, and ethical issues surrounding genetic testing.

It’s October and that means it National Awareness for many cancers, disorders and diseases. I discuss some of these giving a 101 lesson on the diseases such as breast cancer and liver cancer. Don't forget to attend the BRCA event, "Understanding Risk for Breast and Ovarian Cancers: A Discussion for Students as Consumers & Future Healthcare Provider". It is happening here at UCONN Storrs!

UCONN hosted a free event honoring Henrietta Lacks on September 24th, 2015 at The Jorgensen Center for the Performing Arts. The bestselling author of the book, The Immortal Life Of Henrietta Lacks, Rebecca Skloot presented as well as members of the Lacks family. This episode recaps the event and features an interview with descendents of Henrietta Lacks, Kimberly Lacks, granddaughter, and Veronica Spencer, great-granddaughter.

What are syndromes that elevates one’s risk for developing cancer? There are many different conditions, this episode highlights Cowden’s Syndrome, Lynch Syndrome and Li-Fraumeni Syndrome. I cover information such as what the syndrome is, how it increases risk of cancer, how prevalent it is, how it is inherited, and what genes are involved.

Dr. Caroline Dealy of UCONN Health gives an inside scoop about her research on the development of the human skeleton. This regenerative research involves human embryonic and induced pluripotent stem cell. Dr. Dealy explains the role of genetics in these stem cells. She shares her insight on these incredible potential medical treatments for people that have lost limbs. We also discuss her role as the director of the Skeletal, Biology and Regeneration Graduate Program and what she is teaching her students in anticipation of how this field is changing.

Robin Schwartz shares her experience as a hereditary cancer genetic counselor. As a genetic counselor for over 30 years she has seen many changes in the field and provides an inside scoop. She provides information to patients who are interested in genetic counseling and how patients can prepare for a genetic counseling meeting. We discuss red flags for hereditary cancer, genetic testing, and how insurance coverage works with the cost of these services. Check out nsgc.org, mentioned by Robin Schwartz, to learn more about genetic counselors.

10 women who made major contributions to the fields of microbiology and genetics are recognized. Rosalind Franklin provided key evidence for the structure of DNA. Nettie Stevens supported her hypothesis that a fetus’s sex was determined by chromosomes, not environment. Barbara McClintock discovered mobile genetic elements. Salome Gluecksohn Waelsch founded the field of developmental genetics. Esther Lederberg discovered the lambda phage, worked on the F fertility factor, and, developed the method of replica plating. One theme throughout this episode is how little credit these women recieved for their work.

A review of a Precision Medicine Initiative presentation at Jackson Laboratory Genomic Medicine in Farmington, CT. by Dr. Jo Handelsman. Also on July 10th the 21st Century Cures Act passed in the House of Representatives, the advantages and disadvantages are explored if this is passed in the Senate.

Maddie Shaw is an active advocate with the Immune Deficiency Foundation and has a Primary Immune Deficiency Disorder (PI). She is also the Founder & Leader of Maddie’s Herd. Maddie's Herd raises awareness and research funds ($22,000 so far of her $50,000 goal!) for the ImmunoDeficiency Foundation (IDF) as 1000s of Americans are battling immunodeficiency disorders through prolonged diagnosis. Maddie is teaching doctors to "Think Zebra" when they hear hoofs. Like Maddie's Herd on Facebook to stay up to date. Don't forget to get your very own Maddie's Herd T-shirt and bracelet, both of which Ed Sheeran owns, he even wore his bracelet while playing on stage!

Dr. Klassen shares his research with fungus-growing ant symbiosis to understand how microbial interaction evolves. He explains how relevant genetics is in his research as well as other research he has done involving gene fragmentation, phylogenetic analysis and drafting genome sequences. We discuss how genome sequencing works and how the technology has advanced in the last 10 years. The device we refer to in the episode is seen below! He explains what students can expect in his spring 2015 Microbial Genomics course (MCB 3895-004). Dr. Klassen is an Assistant Professor at UCONN. He received his PhD in Microbiology and Biotechnology, University of Alberta and his Postdoctoral Study in the Department of Bacteriology, University of Wisconsin-Madison. He has his own lab in UCONN Storrs campus, Klassen Laboratory. Learn more on jonathanklassenlab.com and follow their activities on Twitter @KlassenLab.

Plugging Away at Leaks in the Public Health Dike: Infectious Disease - Ebola and the Rest. This event was sponsored by the UCONN Student Chapter of the American Society for Microbiology and featured 2 speakers. Dr. Richard Melchreit is the Healthcare Associated Infections Program Coordinator at the CT Department of Public Health. He discussed the hosts of infectious disease challenges facing public health today. He discussed the concerns and pandemic influenza, outbreaks for foodborne disease; healthcare associated infections; and antimicrobial-resistant pathogens (such as MRSA, drug-resistant TB and CRE) Dr. Randal Nelson, DVM, CT State Public Health Veterinarian expanded upon Dr. Melchreit’s ideas as well as talked about zoonoses. Dr. Rob Knight from Pediatrics and Computer Science and Engineering of University of California presented on the Dynamics of the Human Microbiome. I share a few points he made during his presentation that shows just how powerful the microbiome in all of us.

Georgia Hurst (@ShewithLynch), Amy Byer Shainman (@BRCAresponder), and Ellen Matloff (@MyGeneCounsel) are involved in raising awareness for Hereditary Cancer by holding the #Hcchats (@Hc_chat) on Twitter. You can catch the next Tweetchat April 29th at 9pm ET with special guest Dr. Sharon Bober (@DrSharonBober), an expert in sex after Oophorectomy or Hysterectomy. Georgia Hurst shares her and her family's experience having Lynch Syndrome and how she started her non-profit, IHaveLynchSyndrome.com. Amy Byer Shainman describes her documentary, Pink and Blue, and being a BRCA1 positive previvor. Ellen T. Matloff is the President and CEO of MyGeneCounsel and shares her insight on the importance of understanding genetic testing and genetic counseling and we all weigh in on Angelina Jolie's impact on both.

News stories include a very bizarre story about Gabriele D’Annunzio, a dead national war hero whose DNA was reconstructed. New advances in treatments for the most common form of muscular dystrophy, myotonic dystrophy. The last story is about a biotech company, GenomeNext, that has achieved analyzing genomes at the speed of 1,000 per day.

The 100,000 Genomes Project has commenced. Genomics England is heading the project which has plans to sequence 100,000 whole genomes from NHS patients by 2017. This project aims to bring benefit to patients, create an ethical and transparent programme based on consent to enable new scientific discovery and medical insights and kickstart the development of a UK genomics industry.

Presentations at the Rare Disease Day 2015 are recapped. Presentors include Dr. Anton Alerte, Juliet and Tara Lynn, Dr. Caroline Dealy and Ethan Talbot. Check out joshuafrase.org, Favafoundation.org, and rarediseases.org for more information.

Attend the Rare Diseases Awareness Event 2015 at UCONN Health Center on February 25th. Sophia Walker explains the celebration of individuals who have rare diseases and the many researchers and physicians who are fighting to find cures for these conditions. Listen to patients, doctors, and students share their experiences and learn about rare diseases! Everyone is welcome and the free event is geared towards the general public. Email sowalker@uchc.edu for any questions. Visit rarediseaseday.us, rarediseaseday.org and rarediseases.org for more information.

This episode features an interview with Noel Lloyd who is the communications manager from the Alliance for Aging Research. The Alliance for Aging Research is the leading nonprofit organization dedicated to accelerating the pace of scientific discoveries and their application to vastly improve the universal human experience of aging and health. Noel explains how the Alliance advances science and enhances lives through education campaigns and working with legislation. You can read the blog post Noel references about Obama's Precision Medicine Initiative that I discussed last episode of DNA Today along with the 21st Century Cures Initiative blog post. Check out the nonprofit on their website, agingresearch.org, and follow their activties on Twitter @aging_research.

President Barack Obama proposed the Precision Medicine Initiative. It has a $215 million investment in the President’s 2016 Budget. This initiative focuses on the making major advances in personalized medicine. This means tailoring the treatments based on specific characteristics of individuals, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor.

Researchers have identified a genetic mutation accountable for a metabolic disease among Inuits in northern Canada. New research has provided new insight into fragile X syndrome, learn more about the syndrome at fragileX.org. January is National Birth Defect Month! I go over the CDC's top 10 most common birth deffects in the US. Prevention of birth defects is presented.

All about genes! New study finds gene variants may be a contributor to PTSD. New genes have also been discovered to be linked to triple-negative breast cancer. Scientists have successfully used light to trigger REM sleep in mice.

First news story is about research on how genetics can affect the brain and therefore behavior. Another study has been published regarding the mechanism that regulates dopamine levels in the brain, which all comes down to one gene. Last news story is about DNA traveling into space.

A study finds meditating cancer patients are able to affect the makeup of their DNA, hear how they are able to do this. Learn about the Klinefelter Syndrome, which is the presence of an extra X chromosome in males.

A lesson on what epigenetics is. A news story reveals that long-term endurance training alters the epigenetic pattern of the human skeletal muscle. Dr. Brian Chadwick, Assistant Professor of Biological Science at Florida State University, presented his research of X chromosome inactivation at UCONN and I give the highlights and share how it relates to epigenetics.

A plant has more foreign DNA, than its own DNA, how is that possible? A new DNA reading device was developed that is a thousands of times smaller than width of a single human hair. How might his change personalized medicine? The effects of caffenine on embryos are explored.

The event, The Drama of DNA is recapped. It was an enactment of genetic testing sessions and interactive discussion of fictional and real-life drama in the world of genetics. In the news, scientists discover new gene for devastating form of epilepsy. The event and news story both focus on whole genome sequencing.

Dr. Charles Lee, the scientific director at JAX Genomic Medicine, skyped my genetics class today, so I recap what he shared including the question of mine he answered. Members of the UCONN Genetic Engineering Team join the show. They discuss attending the International Genetically Engineered Machine annual competition. This competition gives students a chance to modify an organism that can help society solve some of the problems facing us today. Join them at their meetings 7pm in the UCONN Student Union room 322. Any questions can be directed to jeffrey.o'brien@uconn.edu or brian.liang@uconn.edu.

A summary of Cornell University's Dr. Andrew Grimson's "The Messenger's Tale: Decoding the 3'UTR" presentation at UCONN starts the show. Highlights from Cleveland Clinic's Medical Innovation Summit are innovations in cancer therapy. New research supports the idea that specific groups of microbes living in our gut could be protective against obesity - and that their abundance is influenced by our genes. A new study finds people with a variant in the CETP gene may survive the longest.

Dr. Rachel O’Neill is the Director of the Center for Genome Innovation. She is also a professor and head of Genetics and Genomics in the Department of Molecular and Cell Biology at the University of Connecticut. We discuss her laboratory which researches molecular genetic and cytogenetics techniques to study centromere determinance. Dr. O'Neill shares her findings in DNA contamination and species-specific placental development and evolution. She gives insight on how UCONN and Jackson Laboratory is contributing to genetics. Learn more about Dr. Rachel O'Neill and her laboratory on her website, Roneill.lab.uconn.edu.

A recap of the pigeon genetics presentation from Mike Shapiro kicks off the show. An interview with Denise Anamani, the Academic Coordinator of Laboratory Education for the students in the Diagnostic Genetic Sciences Program at University of Connecticut. News stories include the epigenetic impact of binge drinking and the number of genes found to be associated with height.

This episode is dedicated to gene therapy. A lesson kicks off the show on gene therapy followed by a presentation of both sides of the debate whether this gene therapy is ethical and worth pursuing as a treatment. Two news stories show the advancements of gene therapy today in research. Discovered a gene mutation that causes rare premature aging disease called dyskeratosis congenita. Long-term treatment success using gene therapy to correct a lethal metabolic disorder has been reached.

The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month.

News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored.

Search Links edit widget html Tweets Did you know the tumor suppressor #gene, #TP53 is seen in about 50% of #cancers? Did you know it's estimated that 30% of all existing global data is #healthcare related? #bigdata What does role does #genetics play in stress and #heartconditions? I explore the research published: https://t.co/ze3H6LBvHf Biology + computers = #bioinformations. Check out what the field consist of in this podcast episode: https://t.co/983UwN8539 Live NOW > http://t.co/8cwVrcvMQs How many gene #genes are associated with #height? Find out on this #podcast episode: http://t.co/xLU3uoVjYu #TBT 1 year ago > The Grand Opening of @jacksonlab for #Genomic Medicine. My show review of the initial conference: http://t.co/xWKu596ibZ What is the effects of #caffeine on #embryos? I explore on this episode of #DNA today? http://t.co/nlhBXEjNRU Older Follow @DNApodcast post new entry #6 JACKSON LABORATORIES FOR GENOMIC MEDICINE OPENING 10/13/14 DateMONDAY, OCTOBER 13, 2014 AT 01:44PM modify remove organize post follow up The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagJACKSON LABORTARIES IN CategoryFULL EPISODE, CategoryWHUS #5 NEW METHOD OF DNA ANALYSIS 10/6/14 DateMONDAY, OCTOBER 6, 2014 AT 02:26PM modify remove organize post follow up News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagHUNTINGTON’S DISEASE IN CategoryFULL EPISODE, CategoryWHUS #4 SCHIZOPHRENIA, 8 DISORDERS 9/29/14 DateMONDAY, SEPTEMBER 29, 2014 AT 03:33PM modify remove organize post follow up Dr. John Malone, a professor at UCONN in the Department of Molecular and Cell Biology, presented his research for students which I recap. I plug the grand opening of Jackson Laboratories in Farmington, CT, Jackson Laboratory for Genomic Medicine on October, 8th 2014. Major news story is the new research that Schizophrenia has been revealed to be 8 genetically distinct disorders. Background information on Gregor Mendel is shared. The genetic disorder of the week is Cystic Fibrosis which is explained on the show.

Researchers may have found a gene that has the power to slow the aging process by targeting specific genes. A method to keep stem cells in their pluripotent state for longer was also discovered. Scientists have claim to idenitify the gene that causes Emery-Dreifuss muscular dystrophy which is an incurable muscle-wasting disease. Feature genetists of the week are the duo James Watson and Francis Crick. Genetic disorder of the week is Down Syndrome.

A new inherited neuromuscular disorder has been discovered. Rosalind Franklin's contribution to the discovery of the structure of DNA is explored, her role may be bigger than you think. A lesson of personalized medicine is taught covering the basics of the concept.

News stories are covered with the most major being the announcement of Google Baseline, a projected aimmed to understand the genetics behind a healthy person. The first International Genetic Genealogy Conference took place August 15-17. A mutated gene has been discovered that allows humans to survive at a high altitude.