From rarity to recognition: A brighter future for rare disease patients
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Mayo Clinic launches landmark study on rare neurological disease  - Mayo Clinic News Network
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For rare disease professionals, Shelley’s story is a reminder that true progress starts when we rethink not just the science, but the structure. As a mother, advocate, and leader in the Barth Syndrome community, Shelley challenges the idea of giving patients “a seat at the table.” In her view, rare disease patients are the table — the foundation of everything — and they should be the ones deciding who’s invited to join. Her work has shaped global collaboration, natural history studies, and a lan
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