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DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

Di: Kira Dineen Gene Pool Media
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Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For 14 years, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)***

Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.


This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.

DNA Today, LLC 2012-2026 Scienza Scienze biologiche
Episodi
  • #415: Achondroplasia Treatment Advances with Dr. Ravi Savarirayan

    #415: Achondroplasia Treatment Advances with Dr. Ravi Savarirayan
    Oct 9 2026
    Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States. In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology. In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use. This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families. We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies. Thank you to BridgeBio for sponsoring this episode. Episode Discussion Topics How the achondroplasia treatment landscape has evolved in the last seven yearsHow achondroplasia affects more than heightHow current and investigational therapies target FGFR3 signaling in different waysWhat annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trialsKey findings from the Phase 3 PROPEL 3 study of investigational infigratinibWhat researchers can and cannot yet predict about final adult height based on current dataWhy body proportionality may be an important clinical and functional outcomeHow researchers are evaluating potential effects on mobility, reach, independence, and daily activitiesThe long-term safety questions that remain when treatment begins in childhoodWhy results from separate achondroplasia trials should not be compared directlyHow families and healthcare providers can weigh treatment benefits, risks, administration, and personal goalsWhat is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling Our Guest: Dr. Ravi Savarirayan Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA). Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow. Resources BridgeBio Achondroplasia Program Learn more about achondroplasia, FGFR3 biology, and BridgeBio’s clinical development program evaluating infigratinib.BridgeBio Achondroplasia Clinical Trials Information about the PROPEL clinical trials for infigratinib. “Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia” The article that Dr. Ravi mentioned in the episode that was published June 28, 2026 in The New England Journal of Medicine. Little People of America A nonprofit organization offering community, education, advocacy, events, and resources for people with dwarfism and their families. Relevant DNA Today Podcast Episodes Episode 401: The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan Dr. Savarirayan first appearance on the show where he explains how the first approved precision treatment for achondroplasia works and discusses international consensus recommendations for counseling families, initiating treatment, monitoring outcomes, and considering when ...
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    2 min
  • #414 How To Find Genetics Professionals Worldwide: The Global Genetics Directory

    #414 How To Find Genetics Professionals Worldwide: The Global Genetics Directory
    Oct 2 2026
    When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide. In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource. We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world. Episode Discussion Topics Why finding genetics professionals in other countries can be challengingHow Monisha’s experiences in India and the United States shaped her perspective on global accessWhen international connections are especially important for patient care and cascade testingWhat genetics professionals around the world said they needed from a global directoryHow NSGC’s Audrey Heimler Special Projects Award supported the projectHow registration, credential verification, and directory searches workWhy eligibility is limited to credentialed genetics and genomics professionalsHow the directory accommodates differences in professional titles, credentials, and scopes of practiceWhy membership is freeThe benefits of a closed, peer-to-peer, and consent-based modelHow patients seeking care abroad can work with their current providersThe team’s vision for expanding the directory and strengthening international collaboration About Monisha Sebastin Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research. Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory. The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.” Resources & Links Global Genetics DirectoryTo email directly, contact@globalgeneticsdirectory.com National Society of Genetic Counselors (NSGC)NSGC’s Audrey Heimler Special Projects AwardFind A Genetic Counselor Directory Relevant DNA Today Podcast Episodes #109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures.#110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination.#114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region.#212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic counselors.#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels — Learn how genetic counseling is practiced and taught in South Africa, including barriers to expanding services and differences between its public and private healthcare systems.#259 NSGC 2023 Recap and Reflections with Catherine Mayo — Catherine Mayo returns to the show to discuss major themes and takeaways from the genetic counseling profession’s annual conference.#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci — Meet the Global Genetics Directory’s web developer and site architect and hear how computer vision can support the diagnosis of genetic conditions.#286 Qatar Genome Program with Dr. Said Ismail — Explore the Middle East’s largest population-based genome initiative and its work to improve the representation of Qatari and Arab populations in genomic research.#311 Mock Cancer Genetic Counseling Session with Catherine Mayo — Hear Catherine Mayo ...
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    28 min
  • #413 PKU Beyond the Diet: Food, Mental Health, and Daily Life

    #413 PKU Beyond the Diet: Food, Mental Health, and Daily Life
    Sep 25 2026
    For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel. This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker. This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future. In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food. Joining us are a mother and daughter who have experienced that journey together: Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU. Lillian Isabella is a playwright, actor, advocate, and former National PKU Alliance board member who lives with PKU. She is also Dr. Brown’s daughter. Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. Episode Discussion Topics What a “low-protein diet” actually requires for someone living with PKUHow protein and phenylalanine tolerance are determined and monitored over timeThe work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foodsDr. Brown’s experience learning to treat feeding her newborn as a form of medical careRaising two daughters with PKU and balancing dietary management with everyday family lifeLillian’s relationship with PKU formula and medical shakes throughout different stages of lifeHow elevated phenylalanine levels can affect focus, energy, mood, and daily functioningNavigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situationsWhen Lillian first became aware that she ate differently from her peersHow constant food monitoring can influence a person’s emotional relationship with eatingPKU-related frustration, burnout, anxiety, guilt, and resentmentHow language used by clinicians can shape a child’s identity and relationship with their conditionTransitioning from parent-managed PKU care to greater independence in adolescence and adulthoodReturning to metabolic care after time awayLillian’s experience turning her lived experience with PKU into advocacyAdvice for parents who have just learned their baby has PKUHow guidance and support may change through early childhood, adolescence, and adulthoodDr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier Resources & Links When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer BrownPKU / PhenylketonuriaPhenylalanine hydroxylase deficiency ACT SheetThe Newborn Screening Information Center (NBSIC)Recommended Uniform Screening Panel, or RUSPRUSP overview for familiesACMG Newborn Screening ACT Sheets and AlgorithmsBaby’s First Test: Newborn Screening InformationNational PKU Alliance Relevant DNA Today Podcast Episode Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future. Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, explore our library of over 400 episodes on Apple Podcasts, Spotify, DNAToday.com, or wherever you listen to podcasts. Just search “DNA Today.” Prefer to watch? The video version of this episode is available on our YouTube channel and DNAToday.com. Select episodes are filmed in person, including some at the iconic NBCUniversal studios. Discover more podcasts exploring genetics, genomics, medicine, and science from our network, Gene Pool Media: The Science Podcast Network. DNA Today is hosted and executive produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Liv Davidson is our Social Media Lead and Eric Knaus is our Digital Marketing and Automation Lead. Follow us at @DNATodayPodcast on all platforms including Instagram, X, BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions, partnership inquiries, and guest pitches can be sent to info@DNAToday.com.
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    36 min
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