Genetics

Genetics

By ReachMDMedicine
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Genetics episodes

  • Fibrodysplasia Ossificans Progressiva: Mechanism of Disease

    Fibrodysplasia ossificans progressiva (FOP) is a severely disabling myopathy in which extraskeletal bone forms and accumulates over time within muscles and soft tissues.1,2 Here’s what we know so far about the mechanisms of heterotopic ossification in patients with FOP.

    References:

    1. Kaplan FS et al. Best Pract Res Clin Rheumatol 2008;22:191–205.
    2. Pignolo RJ et al. Orphanet J Rare Dis 2011;6:80.

    © 2025 Ipsen Biopharmaceuticals Inc. All rights reserved. ALLSC-US-001927 | August 2025

    0 min
  • Epigenetic Immune Signatures in Alzheimer’s: Implications for Diagnosis and Therapy
    Guest: David Gate, PhD

    Patients with Alzheimer's disease—especially APOE4 carriers—show distinct epigenetic immune alterations that may influence disease progression, treatment response, and side effect risk. In this episode, Dr. David Gate, an Assistant Professor of Behavioral Neurology at Northwestern University, dives into his research on this subject and explains how chromatin accessibility in proinflammatory genes and T-cell receptor changes link to neurological pathology.

    5 min
  • Redefining Cancer Care with Functional Precision Medicine
    Host: Matt Birnholz, MD
    Guest: Jim Foote, MBA

    Functional precision medicine is reshaping oncology by integrating real-time drug testing, genomic data, and artificial intelligence to guide individualized treatment. Dr. Matt Birnholz sits down with Jim Foote, CEO of First Ascent Biomedical, to explore how this approach delivers clinically actionable insights for relapsed and resistant cancer and empowers oncologists with faster, more targeted decision making.

    0 min
  • The Genetics of Migraine: Advancing Diagnosis and Personalizing Treatment
    Host: Ryan Quigley
    Guest: Lyn R. Griffiths

    Decades of research have transformed our understanding of migraine genetics, from rare monogenic types to complex polygenic forms. Mr. Ryan Quigley is joined by Dr. Lyn Griffiths to explore polygenic risk scores, emerging diagnostic tools, and the promise of personalized medicine in migraine care. Dr. Griffiths is a Distinguished Professor and the Director of the Centre for Genomics and Personalised Health at Queensland University of Technology in Brisbane, Australia.

    8 min
  • Genetics in Psoriasis: Impacts on Risk, Comorbidities, and Care
    Guest: Audrey Bui, DO

    Genetic insights are reshaping how we understand the development and comorbidities of psoriasis, as well as treatment response in patients. Hear Dr. Audrey Bui discuss how genetic variants influence risks for certain conditions, how they may predict response to therapies like methotrexate, ustekinumab, and IL-17 inhibitors, and how integrating genetic markers into clinical care can enable more targeted, effective psoriasis management. Dr. Bui is a recent graduate from Lake Erie College of Osteopathic Medicine and an intern at the University of Central Florida prior to starting her dermatology residency at Hackensack Meridian Health Palisades Medical Center.

    5 min
  • Balancing Benefits and Risks in Emerging Sickle Cell Therapies
    Guest: Yogindra Persuad

    For decades, hydroxyurea has been the cornerstone therapy for sickle cell disease, but new disease-modifying therapies, curative strategies, and gene therapies are expanding options for patients. While these advancing approaches come with some risks, they can help offer symptom relief, reduce complications, and give patients more choices when it comes to managing their sickle cell disease. Hear Dr. Yogindra Persuad, a physician in the Department of Hematology at St. Jude Children’s Research Hospital in Memphis, Tennessee, walk through the history of sickle cell disease treatment and discuss the benefits and risks of these developing therapies.

    0 min
  • Treatment of a Broader Population of Patients With DMD
    Host: Crystal Proud, MD
    Guest: Erika Finanger, MD, MS

    By completing this activity, learners will gain the skills and confidence to determine therapeutic candidacy and conduct appropriate assessments for patients with Duchenne Muscular Dystrophy (DMD) across the age spectrum, including older and non-ambulatory individuals. They will improve their ability to interpret and apply the latest clinical data to real-world scenarios and make informed decisions about treatment and monitoring. Through case-based education, learners will enhance their competence in aligning patients to appropriate therapies and managing long-term care in a rapidly evolving treatment landscape.

    0 min
  • New Frontiers in the Treatment of DMD Across the Age Spectrum
    Host: Crystal Proud, MD
    Guest: John Brandsema, MD
    Guest: Omer Abdul Hamid, MD

    Explore the latest treatment options, age-specific management strategies, and clinical trial data for patients with Duchenne muscular dystrophy (DMD). Through expert-led discussions and real-world patient cases, you’ll gain practical insights to help you confidently navigate today’s ever-evolving treatment landscape and deliver personalized, informed care.

    36 min
  • Transitioning to Adult Care in DMD: Strategies for Long-Term Support
    Guest: Rosaline Quinlivan

    From sustained therapy and emergency planning to psychological support, coordinated care is essential as patients with Duchenne muscular dystrophy (DMD) transition into adulthood. Explore multidisciplinary approaches to optimize function, independence, and quality of life in adults with DMD with Dr. Rosaline Quinlivan, Professor of Neuromuscular Disease at University College London.

    5 min
  • Supporting Adults With DMD: A Guide to Acute and Long-Term Planning
    Guest: Rosaline Quinlivan

    As patients with Duchenne muscular dystrophy (DMD) transition from pediatric to adult care, they may encounter healthcare professionals—from primary care to emergency medicine—without prior experience managing their condition. Explore critical gaps in adult services for DMD and gain practical insights to help deliver timely, informed, and compassionate care with Dr. Rosaline Quinlivan, Professor of Neuromuscular Disease at University College London.

    4 min