エピソード

  • Living with Spinal Muscular Atrophy: Genetic Testing, Therapy, and More

    Living with Spinal Muscular Atrophy: Genetic Testing, Therapy, and More
    2026/01/30
    Andrew Cherico, a student at the University of Central Florida, Orlando, FL, discusses his experience living with spinal muscular atrophy (SMA), the impacts of available treatments, and how the condition intersects with his passion for sports journalism. He is joined by John W. Day, MD, PhD, Professor of Neurology and Pediatrics, Director, Division of Neuromuscular Medicine at Stanford University School of Medicine, and Co-Director of Stanford’s Neuro IGNITE Center, Stanford, CA, who describes the importance of genetic testing, the landscape of available SMA treatments, and the significance of the newly approved one-time gene therapy Itvisma (onasemnogene abeparvovec-brve; Novartis, East Hanover, NJ).
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    36 分
  • Emma’s Journey: A Mother’s Hope in the Face of Dravet Syndrome

    Emma’s Journey: A Mother’s Hope in the Face of Dravet Syndrome
    2025/11/13
    In this episode, Nicole Watson shares her daughter Emma’s powerful journey living with Dravet syndrome, a rare and severe form of epilepsy. From the early days of uncertainty and searching for answers to finding the right care and treatment, Nicole opens up about resilience, hope, and the lessons learned along the way. Her story offers heartfelt insight for families, caregivers, and healthcare professionals alike.
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    19 分
  • Redefining the Doctor-Patient Partnership: What a Physician-Patient Can Teach Us About Parkinson Disease Care

    Redefining the Doctor-Patient Partnership: What a Physician-Patient Can Teach Us About Parkinson Disease Care
    2025/10/17
    How can neurologists partner with their patients living with Parkinson disease? Kathleen Blake, MD, MPH, Santa Fe, NM, Vice Chair of the Parkinson's Foundation People with Parkinson’s Advisory Council, discusses Parkinson disease care from her unique perspective as both a patient and former physician.
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    13 分
  • Mastering Migraine

    Mastering Migraine
    2025/05/07
    Melody Barthelemy, a human resources specialist, details her experiences living with migraine, including strategies for tracking episodes and thriving with a busy career. She is joined by Dawn C. Buse, PhD, Clinical Professor, Albert Einstein College of Medicine, New York, NY, who discusses recent research in the field.
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    25 分
  • The Importance of Early Diagnosis and Treatment of Alzheimer Disease

    The Importance of Early Diagnosis and Treatment of Alzheimer Disease
    2025/01/22
    Linda Shows, a semi-retired nurse who lives with mild cognitive impairment, and her physician, Wendell Helveston, MD, Hattiesburg Clinic, Hattiesburg, MS, discuss the importance of early diagnosis and treatment in Alzheimer disease, including other factors that can help patients thrive when living with this condition.
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    21 分
  • Rehabilitation after Traumatic Brain Injury (TBI)

    Rehabilitation after Traumatic Brain Injury (TBI)
    2024/12/19
    After an attack leading to multiple surgeries and a traumatic brain injury, survivor Kel Mabatah developed a rehabilitation scholarship that enables TBI patients to continue therapy after insurance runs out. Kel is joined by Alfreida Melvin, mother of Dontel, who is a recipient of the scholarship from the “Kel Strong” Mabatah Foundation. https://www.kelstrongfoundation.com/
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    24 分
  • Redefining Life with Friedreich Ataxia

    Redefining Life with Friedreich Ataxia
    2024/11/20
    We speak with neuromuscular disease expert David Lynch, MD, PhD, attending neurologist in the Division of Neurology at Children's Hospital of Philadelphia and director of the Friedreich Ataxia Program, about the emerging treatment landscape for Friedeich Ataxia as well as Kiersten Riggs, who discusses the events leading to her Friedrich Ataxia diagnosis and how she has adapted to life with Friedrich ataxia.
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    12 分
  • Young-Onset ALS: Diagnosis and Research

    Young-Onset ALS: Diagnosis and Research
    2024/11/08
    In this episode, Gwen Petersen discusses her long journey to receiving an ALS diagnosis at age 32, her contributions to a Cytokinetics book project, and the importance of clinical trial participation. We are also joined by Merit Cudkowicz, MD, MSc, Head of the Department of Neurology, Chief of Neurology, and Director of the Sean M. Healey & AMG Center for ALS at Massachusetts General Hospital in Boston, MA who discusses the PLATFORM-ALS trial and the drugs currently in the clinical research and development pipeline.
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    20 分