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Rare Awareness Radio

Rare Awareness Radio

著者： Rare Awareness Radio
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 Shedding light on underrepresented diseases and the efforts of non-profit foundations working tirelessly to support those affected.All rights reserved 経済学
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  • EP 24 Samuel M. Young, Jr., PhD

    EP 24 Samuel M. Young, Jr., PhD
    2025/08/16
    In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Sam Young, Director of the Gene Therapy Center at the University of North Carolina at Chapel Hill. From his early days as a Princeton football player turned molecular biology student, to training under Nobel laureates and leading pioneering labs across the U.S. and Europe, Sam has built a career at the cutting edge of gene therapy. His story is one of resilience, curiosity, and a willingness to tackle “generational questions” that few others dare to pursue. Together, we explore: The evolution of gene therapy from early setbacks to transformative breakthroughs. Why packaging limits in AAV vectors matter—and how new adenoviral approaches may unlock treatments for large, complex genes. The urgent challenges in treating rare neurological conditions like Ataxia-Telangiectasia and CACNA1A-related disorders. The importance of integration between scientists, clinicians, and patient advocates to bring new therapies forward. Dr. Young reminds us that the real heroes are always the patients and families, and that the responsibility of science is to create the world not as it is, but as it should be. 🎧 Tune in for an inspiring conversation about science, persistence, and hope for the rare disease community. For additional information on Sam Young, please visit - https://www.med.unc.edu/pediatrics/people/samuel-m-young-jr-phd/ To learn more about the CACNA1A Foundation, please visit - https://www.cacna1a.org/
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    50 分
  • EP 23 Kristin Baranano

    EP 23 Kristin Baranano
    2025/08/02
    Understanding CACNA1A: A Conversation with Dr. Kristin Baranano Episode Description: In this powerful episode of Rare Awareness Radio, host Richard Juknavorian sits down with Dr. Kristin Baranano, a pediatric neurologist and neurogeneticist at Johns Hopkins University, to explore CACNA1A-related disorders—rare neurological conditions that affect children and adults across a complex spectrum of symptoms including ataxia, epilepsy, developmental delays, and more. Dr. Baranano shares her clinical journey, from her early research in developmental neuroscience to her current work treating and supporting families facing these challenging diagnoses. Together, they discuss: What CACNA1A is and how it functions in the brain The diagnostic process and why it’s often a long and emotional journey The role of genetic counseling and family history Current management strategies and the importance of multidisciplinary care Emerging research and the future of precision medicine in neurology Trusted resources and support networks for families, including the CACNA1A Foundation This episode is a must-listen for caregivers, clinicians, researchers, and advocates committed to improving care and raising awareness for rare neurological disorders. 🔗 Learn more: https://www.cacna1a.org/ 📬 Subscribe to Rare Awareness Radio for more conversations with experts and changemakers in rare disease. #CACNA1A #Neurogenetics #RareDiseaseAwareness #PediatricNeurology #PrecisionMedicine #GeneticDisorders #RareAwarenessRadio
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    25 分
  • EP 22 Janet Vasquez

    EP 22 Janet Vasquez
    2025/07/26
    Janet Vasquez on FAM177A1, Resilience, and Finding Strength Through Motherhood Description: In this heartfelt episode of Rare Awareness Radio, we sit down with Janet Vasquez, a devoted mother of two daughters diagnosed with FAM177A1, a rare neurodevelopmental disorder. Janet opens up about her family's journey—from the early signs and missed diagnoses to navigating daily life, advocacy, and the emotional toll of feeling isolated. She shares powerful insights on the importance of trusting your instincts as a parent, fighting for answers, and finding community through rare disease networks. We talk about raising awareness, embracing small victories, and the deeply personal hopes she carries for her daughters’ futures. Through stories of Halloween costumes, bedtime seizures, inaccessible beaches, and moments of pure joy, Janet reminds us that while the rare disease world is full of unknowns, it’s also full of love, courage, and an unbreakable will to keep going. 🔗 Learn more about the FAM177A1 Research Fund and how you can help at: https://www.fam177a1.org/ 📣 Share this episode to raise awareness and let families like Janet’s know they are not alone. #RareDisease #FAM177A1 #Motherhood #DisabilityAwareness #GeneticDisorder #SeizureAwareness #Parenting #RareAwarenessRadio
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    36 分
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