DNA Today: A Genetics Podcast Podcast Por Kira Dineen Gene Pool Media arte de portada

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 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.

DNA Today, LLC 2012-2026 Ciencia Ciencias Biológicas
Episodios
  • #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 m
  • #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 m
  • #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

    #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
    Mar 6 2026
    Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing.Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss.Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care.Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq.Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant?Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time.When Results Are Inconclusive: How to handle unexpected or unclear RNA findings.Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice.Implementation Barriers: Challenges to scaling multi-omic testing in routine labs.Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade. Resources & Links: Learn more about Baylor Genetics hereBaylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing CasesAAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical ReportBaylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental DelaysDr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention”Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282.Undiagnosed Disease Network Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 380 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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    26 m
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