RARECast

RARECast
  • 0.0（0則評分）
  • 商業
  • 每週更新

RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.

  1. 2 天前

    Capturing the Lived Experience of Rare Disease

    When Kasey Walsh's daughter was diagnosed with an ultra-rare genetic disorder, she discovered a frustrating paradox: researchers desperately needed insights from patient families, yet institutional barriers made it nearly impossible to capture the nuanced, lived experiences that could inform drug development and improve care. Drawing on her background as a healthcare service coordinator and her firsthand experience navigating rare disease research, Walsh created Winsights, a platform that transforms casual patient conversations into structured, regulatory-grade data while ensuring families retain ownership and control over how their contributions are used. Walsh, founder and CEO of Winsights, discusses her daughter's diagnostic journey, the critical gaps in how patient experience informs drug development, and how Winsights empowers rare disease communities to drive research priorities.

    40 分鐘

  2. 5月14日

    Raising Awareness of Clinical Trials

    Patients facing medical decisions often find themselves drowning in confusing information that is laden with scientific terminology and often neglects the human element. Keith Berelowitz, a clinical research operations veteran motivated by personal experience, created the Trialport platform to embed trial information in patient community websites with plain language, multilingual support, and behavioral assessments that go beyond medical eligibility. The company partners with patient advocacy groups while providing sponsors with real-time behavioral insights that reveal how patients engage with trial information. Berelowitz, founder and CEO of Trialport, discusses his vision for a future where clinical trials are discussed alongside standard of care as a routine healthcare option, the gap between clinical trial availability and patient awareness, and how the Trialport platform works to help both patients and sponsors understand readiness for clinical trials.

    37 分鐘

  3. 5月7日

    Using AI and Longitudinal Data to Transform Rare Disease Care

    Matching phenotype to genotype at scale could transform how rare diseases are found, understood, and treated. Komodo Health has partnered with GeneDx to build one of the most comprehensive longitudinal rare disease datasets ever assembled. John Wollman, head of revenue strategy at Komodo Health, discusses how Komodo’s longitudinal real‑world data on more than 330 million de-identified U.S. patient journeys, combined with GeneDx’s genomic testing and rich phenotypic information, can shorten diagnostic odysseys, rapidly enable natural history studies, and help stakeholders across the rare disease continuum make smarter and faster decisions for people living with rare diseases.

    19 分鐘

  4. 4月30日

    Cutting through the Diagnostic Maze for Rare Diseases

    Whole genome sequencing is reshaping the rare disease diagnostic odyssey by replacing years of serial, narrow gene panels and helping patients with suspected rare diseases obtain faster, more definitive answers. Akash Kumar, co‑founder and chief medical officer of MyOme, discusses where genome sequencing now fits into care pathways, how it captures hard‑to‑detect variant types; and what it means for treatment decisions, clinical trial access, and the emotional burden on families searching for a diagnosis.

    39 分鐘

  5. 4月23日

    How Parents Took Development of a Gene Therapy into Their Own Hands

    Nicole Johnson and Nasha Fitter are both mothers of daughters with the ultra-rare neurodevelopmental condition FOXG1 syndrome, which currently has no approved disease-modifying therapies. The disorder causes profound developmental disabilities, epilepsy, motor and speech impairments, and multi-system challenges. The two mothers co-founded the FOXG1 Research Foundation to advance treatments for the condtion. Johnson and Fitter discuss how a parent-driven foundation became a virtual biotech capable of advancing a gene therapy into human clinical trials, how they prioritized translational work over academic projects that don’t move a therapy toward the clinic, and the lessons they’ve learned that can guide other rare disease communities.

    46 分鐘

  6. 4月16日

    Matching the Right Therapy to the Right Child with a Rare Cancer

    When Jim Foote lost his son, Trey, to osteosarcoma, it exposed the limits of one-size-fits-all cancer protocols. He co-founded First Ascent Biomedical to apply functional precision medicine to rare and pediatric cancers. First Ascent uses this approach to transform care for children with rare and relapsed cancers by moving beyond protocols built on averages to decisions grounded in each child’s tumor biology. Foote, CEO of First Ascent, discusses how combining genomics, functional assays, and AI offers a realistic path to better outcomes, fewer lifelong toxicities, and more rational use of existing anti-cancer drugs that are not yet used optimally for individual children.

    46 分鐘

  7. 4月9日

    From Treating Symptoms to Addressing Causes in Rare Autoimmune Diseases

    When the immune system misfires, it can cause very different rare diseases that, on the surface, don’t seem related at all. Sanofi, though, is exploring similarities in rare autoimmune conditions that may allow it to treat a number of different disorders with a single therapy. We spoke to Pablo Sardi, head of rare disease research at Sanofi, about the company’s oral BTK inhibitor rilzabrutinib, the challenges of testing one drug in different rare diseases, and how this kind of approach might push doctors to focus less on symptoms and more on the root causes of a rare disease.

    24 分鐘

  8. 4月2日

    A Mother’s Journey to Rewrite a Neurodevelopmental Disorder

    Špela Miroševič, a psychotherapist and biopsychologist working as a researcher at the Medical University Ljubljana in Slovenia became immersed in rare disease drug development after the birth of her son Urban. As an infant, Urban was diagnosed with the ultra-rare, neurodevelopmental condition CTNNB1 syndrome. Miroševič founded the CTNNB1 Foundation, which is now advancing Urbagen, an AAV9 gene replacement therapy named for her son. We spoke to Miroševič about how she assembled an international team of researchers, raised millions of dollars to fund research and development, and what it took to push a parent-led gene therapy all the way into a first-in-human clinical trial.

    57 分鐘
顯示全部 (596)

簡介

RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.

資訊

  • 創作者
    RARECast
  • 活躍年代
    2014年 - 2026年
  • 集數
    596
  • 年齡分級
    兒少適宜
  • 版權
    © All rights reserved
  • 節目網站
    RARECast

你可能也會喜歡