Couverture de DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

De : 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.

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Épisodes
  • #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR

    #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR
    Oct 16 2026
    CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics. In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations. From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient. Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment. Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model. This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation. Episode Discussion Topics: The 2018 announcement of the world’s first CRISPR-edited babies in ChinaWhy He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlashThe difference between editing embryos and germline cells versus editing somatic cells in a patientWhat the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technologyHow the field of CRISPR medicine has evolved since 2018How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular diseaseUsing CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterolThe development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery diseaseThe possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatmentsHow cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiencyWhat CPS1 deficiency is and why it can become life-threatening shortly after birthHow Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatmentWhy KJ’s specific genetic variant was a candidate for base editingHow base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNADeveloping a gene-editing therapy specifically for a single patientDelivering the gene editor to liver cells using lipid nanoparticlesWhy the liver is an especially promising target for in vivo gene-editing therapiesThe collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possibleNavigating FDA review for a therapy that had never previously been given to a humanWhy KJ received multiple doses of the therapyEarly signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medicationWhy researchers are careful not to describe KJ’s treatment as a cureThe importance of long-term monitoring for both effectiveness and potential safety concernsEvaluating off-target editing and other potential risks of personalized gene-editing therapiesWhether creating an individual therapy for a single patient can realistically become scalableMoving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variantsHow regulatory frameworks may need to evolve for personalized genetic medicinesWhich other rare genetic diseases could potentially benefit from this approachWhat Baby KJ’s story could mean for the future of precision medicine and gene editing About Dr. Kiran Musunuru Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center ...
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    30 min
  • #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
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