DNA Today: A Genetics Podcast

• #331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay

  This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism.    This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   The Actors:   Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.   After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession.    Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.   Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor. Pediatric Mock Session Case Information    Case Details: The patient is a 4 year old male with autism and global developmental delay who presented to genetics with his mother and sister-in-law.   Patient Name: John   Parent Name: Claire   Sister-in-law Name: Joy   Medical History: Pregnancy: Uncomplicated  Non-invasive prenatal screening: low risk for trisomies Ultrasounds were normal Full term via NSVD Exposures: none Developmental milestones: delayed Sitting: 10 months Walking: 2 years Talking: 3 years Can speak in 2-3 word sentences Education Preschool  Therapies OT (2x weekly, 30 min) ST (2x weekly, 30 min) PT (2x weekly, 30 min) Review of Systems ENT - ear infections (3x) Normal physical exam Specialists seen: Neurologist, Audiologist, Developmental Pediatrician    Family History: Ancestry: Irish and German No consanguinity, birth defects, genetic conditions, multiple miscarriages or infant deaths Cousin with autism Pediatric Mock Session Outline   Contracting: Greetings and introductions Reason for referral to genetic counseling Overview of session Address patient questions or concerns   Medical Intake: Pregnancy history, developmental milestones, review of systems, and other relevant medical history   Family History: Construct a pedigree Consanguinity, ID/DD/autism, birth defects, genetic conditions, multiple miscarriages, infant deaths, etc.   Physical Examination Done by the geneticist   Patient Education Overview of genetics Causes of autism spectrum disorder Discussion of multifactorial causes, chromosomal abnormalities, single-gene disorders Discuss appropriate testing options: Chromosomal microarray + Fragile X syndrome testing Whole exome sequencing (WES) Whole genome sequencing if indicated Sample collections blood versus saliva  Possible results Negative, Positive, Variant of Uncertain Significance Incidental findings Secondary findings can be reported for ES and GS  Turnaround time Cost and insurance coverage Shared decision-making Informed consent   Recommendations and next steps Summary of the session Follow up with genetic counseling to discuss test results   Final questions and conclusion of session   Stay tuned for the continuation of our mock genetic counseling session series inspired by a cumulation of cases.    Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com.  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 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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 [email protected]. 

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• #330 Rare Disease Parenting: A 7-Year Diagnostic Odyssey to Wiedemann-Steiner Syndrome

  Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health. Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey.  They share: 🧬 Early signs & the long road to diagnosis 💡 How they processed & adapted to the diagnosis 🤝 Resources & the support that made a difference 📢 Their advocacy work & the power of the WSS community Resources:  Team IMPACT  Uplifting Athletes WSS Foundation  National Organization for Rare Disorders  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 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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 [email protected].

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• #329 Preventive Genomic Medicine: Saving Lives and Healthcare Costs with MyOme

  How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode. Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolutionizing pregnancy care to tracking cancer through blood tests. In 2024, he was named R&D Leader of the Year by R&D World. Now, he’s tackling preventative genomic medicine, showing us how tools like whole genome sequencing (WGS) and polygenic risk scores (PRS) are turning healthcare from reactive to proactive. Dr. Rabinowitz is the co-founder and Executive Chairman of MyOme and has played a key role in developing cutting-edge genomic technologies. His work has shaped the fields of reproductive genetics, cancer diagnostics, and precision medicine. With over 100 patents and publications, including papers in Science and Nature, his impact on healthcare is undeniable. Topics Covered: How whole genome sequencing (WGS) is reshaping healthcare and risk assessment The power of polygenic risk scores (PRS) in cancer prevention and early detection MyOme’s Breast Cancer Polygenic Risk Score (PRS) and its implications for proactive medicine The economic benefits of genomic medicine in early intervention and disease prevention include potentially saving $200 billion annually in healthcare costs Ethical considerations and the importance of inclusivity in genomic research The future of preventive genomic medicine—will WGS become standard care? Will it start with newborns? Resources and Links: Learn more about MyOme and its work in preventive genomic medicine: myome.com 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 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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 [email protected]. 

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• #328 Breakthrough Biotech: CAR-Ts for Solid Tumors & Engineered Bacteria for Rare Diseases

  This week, I attended BIO’s CEO and Investor Conference in New York City—one of the largest investor gatherings in the biotech industry. The conference, organized by BIO (Biotechnology Innovation Organization), brings together institutional investors, industry analysts, and senior executives to discuss the latest biotech advancements and investment opportunities. At the conference, I attended insightful panel discussions and company presentations where biotech CEOs shared their latest breakthroughs, research progress, and investment potential. After their presentations, I had the chance to sit down with two biotech leaders to dive deeper into their work: Dr. Premal Patel of Cellinfinity Bio and Dr. Travis Whitfill of Azitra. Guest Bios: Dr. Premal Patel A physician-scientist with 15 years of experience in medical oncology drug development, Dr. Patel has worked with major biotech companies like Genentech, Pfizer, and Juno Therapeutics. He specializes in CAR-T therapy, a groundbreaking approach to engineering immune cells to fight cancer. Now, as CEO of Cellinfinity Bio, he’s focused on tackling one of cancer treatment’s biggest challenges: using CAR-T to treat solid tumors. Dr. Travis Whitfill A serial biotech entrepreneur and venture capitalist, Dr. Whitfill co-founded Azitra, a company pioneering the use of synthetic biology to engineer skin bacteria for treating rare genetic skin diseases. He has led multiple biotech startups, served on the boards of several healthcare companies, and was named to Forbes’ 30 Under 30 (Healthcare) list in 2018. Interview Highlights: Dr. Premal Patel – CAR-T Therapy for Solid Tumors CAR-T cell therapy has revolutionized blood cancer treatment, but treating solid tumors remains a major challenge. Dr. Patel explains how Cellinfinity Bio is re-engineering T cells to overcome the barriers posed by solid tumors, making them more effective at infiltrating and attacking cancer cells. His team’s gene engineering approach aims to make CAR-T therapy more accessible and affordable, potentially bringing costs down to the range of antibody-based treatments. The ultimate goal: a game-changing, in-body T-cell reprogramming approach that could expand access to CAR-T therapies globally. Dr. Travis Whitfill – Engineering Skin Bacteria for Rare Diseases Azitra is developing synthetic biology solutions for rare genetic skin diseases, like Netherton syndrome, which currently has no FDA-approved treatments. Their novel therapy aims to treat skin rashes in cancer patients taking EGFR inhibitor drugs, reducing the need for high-dose antibiotics and steroids. Genetically modified bacteria (Staphylococcus epidermidis) are used to deliver missing proteins directly to the skin, a groundbreaking approach in dermatology and rare disease treatment. By integrating precision genetic engineering with synthetic amino acid control, Azitra ensures the therapy is both effective and safe. Resources & Links: Learn more about BIO’s CEO & Investor Conference here Explore Cellinfinity Bio’s CAR-T research here Discover Azitra’s work in synthetic biology here 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 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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 [email protected]. 

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• #327 How Patient Advocacy is Changing Rare Disease Research

  February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman! Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body presentation of ADCY5-related movement disorder. Since then, Gay has transformed her personal experience into global action, building a rare disease community that has directly influenced research and treatment options. Her efforts have bridged the gap between patients, families, researchers, and industry stakeholders, leading to groundbreaking advancements in genetic testing, patient data sharing, and treatment development. Gay now works at GeneDx, where she continues to empower families through genetic testing and data-driven research. On This Episode We Discuss: - Raising a child with an undiagnosed rare disease – The emotional and practical challenges of a 15-year diagnostic journey - The power of community in rare disease research – How ADCY5.org changed the research landscape - Genetic testing and patient data – Why it’s crucial for rare disease families and how to leverage it - Life after diagnosis – How Lilly manages symptoms and what treatments have been most effective - How YOU can support the rare disease community – Advocacy, awareness, and action If you are in the San Diego area, join Gay Grossman, Effie Parks and other rare disease advocates at their event downtown on Feb 28th (aka Rare Disease Day), more info here. If you are not in San Diego, find an event more local to you here.    Speaking of Effie Parks, be sure to check out her podcast Once Upon A Gene, and stick around until the end to hear her son Ford’s adorable laugh. Effie was on Episode #203 of DNA Today and our host Kira Dineen was a guest on her podcast in Episode #143.    During this episode we also mentioned another parent of a kid with a rare disease that includes sleep disturbances. Scotti Taylor shared about her daughter’s Smith Magenis Syndrome on Episode #293.    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 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is 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 [email protected]. 

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