『Rare Awareness Radio』のカバーアート

Rare Awareness Radio

Rare Awareness Radio

著者： Rare Awareness Radio
無料で聴く

このコンテンツについて

 Shedding light on underrepresented diseases and the efforts of non-profit foundations working tirelessly to support those affected.All rights reserved 経済学
エピソード
  • EP 21 Fikri Birey

    EP 21 Fikri Birey
    2025/07/20
    Pioneering Genetic Therapies for Rare Disorders | Dr. Fikri Birey | Rare Awareness Radio Description: In this powerful episode of Rare Awareness Radio, we sit down with Dr. Fikri Birey — neuroscientist, stem cell researcher, and Assistant Professor at Emory University — whose groundbreaking work is advancing the understanding and treatment of rare neurological disorders, including Timothy Syndrome and CACNA1A-related channelopathies. Dr. Birey shares his journey from Cyprus to Stanford to Emory, where he now leads a lab focused on the use of patient-derived 3D brain organoids to model disease at the cellular level. We explore how these human cellular models are helping scientists investigate the underlying mechanisms of rare disorders and test novel therapeutic approaches, including CRISPR and antisense oligonucleotides (ASOs). He also reflects on the critical role of patient advocacy groups like the CACNA1A Foundation, the urgency of translational research, and why collaboration across disciplines is essential to accelerating cures. Whether you're a patient, caregiver, scientist, or simply curious about the future of genetic medicine, this episode offers hope, insight, and inspiration. 🔬 Topics Covered: What are calcium channelopathies? 3D brain organoids and assembloids Timothy Syndrome and CACNA1A research Genetic therapeutics and personalized medicine Advice for rare disease families Role of advocacy groups in shaping research 📢 Don’t forget to like, share, and subscribe for more conversations that raise awareness, foster connection, and accelerate impact in the rare disease community. 🎧 Listen on all major podcast platforms.
    続きを読む 一部表示
    33 分
  • EP 20 Deb Ondrasik

    EP 20 Deb Ondrasik
    2025/07/12
    Living on Both Sides of the Stethoscope — Dr. Deb Ondrasik on CACNA1A, Advocacy, and Hope In this episode of Rare Awareness Radio, we sit down with Dr. Deb Ondrasik—pediatrician, rare disease advocate, and mother to a daughter living with CACNA1A-related epileptic encephalopathy. Deb shares her extraordinary journey navigating life as both a healthcare provider and caregiver, and how her daughter’s diagnosis propelled her into advocacy. From the challenges of early developmental delays to the transformative power of genetic testing, Deb offers insight into the barriers families face—and how we can build a more responsive, compassionate system. She also discusses her work with the CACNA1A Foundation, the importance of building community, and the emotional toll—and resilience—of parenting a medically complex child. Whether you’re a clinician, parent, policymaker, or simply curious about the lived realities of rare disease families, this conversation is packed with heart, honesty, and hard-won wisdom. 🔗 Learn more about the CACNA1A Foundation: https://www.cacna1a.org 📬 Subscribe to their newsletter for updates and opportunities to get involved. 💬 Don’t forget to like, share, and subscribe to Rare Awareness Radio. Your support helps amplify voices that matter. #RareDisease #CACNA1A #RareAdvocacy #PediatricNeurology #GeneticTesting #DisabilityAdvocacy #RareAwarenessRadio #ParentingWithPurpose
    続きを読む 一部表示
    40 分
  • EP 19 Nicole Legro

    EP 19 Nicole Legro
    2025/06/28
    A Voice for the Undiagnosed: Dr. Nikki Legro on FAM177A1, Genetic Advocacy, and Reimagining Maternal-Fetal Medicine - In this powerful episode of Rare Awareness Radio, we sit down with Dr. Nicole “Nikki” Legro—a physician, researcher, and rising leader in the rare disease space. Currently a third-year OB/GYN resident at Georgetown University, Nikki reflects on the long and winding path that led to her groundbreaking work helping to define the FAM177A1-related disorder through the NIH’s Undiagnosed Diseases Network and Stanford University. She shares her early inspirations, the challenges and triumphs of co-authoring a multi-year publication in Genetics in Medicine, and what it means to advocate for families navigating life with an undiagnosed or rare genetic condition. Nikki also discusses the future of maternal-fetal medicine, the growing role of AI in genetic diagnostics, and the deep human connections that drive her work forward. This episode is a must-listen for anyone passionate about the intersection of research, advocacy, and patient-centered care in the world of rare disease. Topics Include: The origin story of Nikki’s interest in rare genetic conditions Her work with the Hawkins family and the FAM177A1 research fund Challenges in publishing rare disease findings Evolving approaches to prenatal genetic screening The future of OB/GYN and gene therapy Building trust and trauma-informed care with patients and families 📣 Subscribe and share to support awareness, research, and advocacy for the rare disease community. #RareDiseaseAwareness #GeneticAdvocacy #WomenInMedicine #MaternalFetalMedicine #FAM177A1
    続きを読む 一部表示
    37 分

Rare Awareness Radioに寄せられたリスナーの声

カスタマーレビュー：以下のタブを選択することで、他のサイトのレビューをご覧になれます。

Audible.co.jp

Amazon.co.jp
レビューはまだありません。