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DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

By: 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 over a decade, 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 2020, 2021, and 2022 Science and Medicine Podcast Award Winner***

Learn more (and stream all 380+ 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.

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Episodes
  • #387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System

    #387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System
    Mar 27 2026
    In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape. Shoutout to the lead organizer Anthony Zuo for putting this conference together. The Panel (in order of appearance) David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency. Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome. Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful. Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast. Topics Discussed The Burden of Expertise A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer. Navigating the Emergency Room David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort. The Battle with Insurance and Systems Kate shares a heartbreaking story of "Systemic Trauma": The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch.The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier." The Power of Community and Storytelling Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change. Relevant Resources: Jill Gassman Zullo’s book Brokenly Beautiful Jonathan Cappiello’s podcast 1 of 20 podcast Kate Tokarski’s poem I Was 'That Mom' National Organization for Rare Disorders (NORD)Undiagnosed Disease Network (UDN)Genetic and Rare Diseases Information Center (GARD) Relevant Rare Disease Patient Advocacy Stories on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    1 hr and 8 mins
  • #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs

    #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
    Mar 20 2026
    What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties. Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care. In This Episode, We Discuss Building a Medical HomeWhat a “medical home” means for children with achondroplasiaCommon concerns families raise after a new diagnosis, beyond heightSupporting families early while planning for long-term care Co-Morbidities & Clinical ComplicationsKey conditions clinicians should monitor in infants and children, including:Foramen magnum stenosisHydrocephalusSleep apneaENT issues like recurrent ear infections and hearing loss Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs How chronic pain presents and is managed across childhood and adulthood Living With AchondroplasiaHow medical needs evolve from childhood into adolescence and adulthoodThe role of fatigue, mobility limitations, and accessibility in daily lifeBalancing medical care with childhood independence and normalcyUnder-recognized burdens that significantly affect patients and families Multidisciplinary Care in PracticeWhat a full skeletal dysplasia care team looks likeHow palliative care supports symptom management, decision-making, and quality of lifeCoordinating care across specialties like orthopedics, neurosurgery, ENT, and audiologyPreventing communication breakdowns between providersHelping families navigate complex choices around interventions and surgeries Looking AheadGaps in current care models for achondroplasiaHow emerging treatments are changing long-term planning conversationsKey takeaways for providers who may only occasionally care for patients with achondroplasia Our Guest Dr. Ricki Carroll: Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee. Achondroplasia Resources: Little People of America (LPA) Dwarf Athletic Association of America (DAAA) International Achondroplasia Forum Achondroplasia GeneReviews Achondroplasia Growth ChartsIreland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 Relevant Skeletal Dysplasia DNA Today Episodes: #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer #301 Dwarfism with Colleen Gioffreda #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia ...
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    42 mins
  • #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

    #385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
    Mar 14 2026
    To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing. Our episode is broken into three segments… Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris SandsIllumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia LoureiroAmbry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger Relevant Resources: Baylor Genetics Segment Resources: Baylor Genetics Announces Enhanced Whole Genome Sequencing TestBaylor Genetics’ Enhanced Whole Genome Sequencing Technologies AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay Illumina Segment Resources: Genomewide Sequencing Ontario Project Illumina’s Emedgene variant interpretation software Illumina’s Grand Rounds in Genomic Medicine Genome Aggregation Database (gnomAD) Ambry Genetics Segment Resources: Ambry Genetics’ Patient for Life website and white paperAmbry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access” Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project #231 ChatGPT and AI In Genetics with Daniel Uribe #285 AI To Enhance Variant Curation with Daniel Uribe #297 Exome Reanalysis with Ambry Genetics #303 RNA Analysis with Ambry Genetics #325 Revolutionizing Variant Curation with MAVEs #334 ACMG 2025 Recap #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey Upcoming Conferences: In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026… Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego Podcast Movement in September in New York City American Society of Human Genetics (ASHG) in October in MontrealNational Society of Genetic Counselors (NSGC) in November in Baltimore Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    45 mins
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