Rare disease detection is an interdisciplinary and international

problem. Building a solution must include internationally agreed-upon

diagnostic criteria for each rare disease, patient access to diagnostic

technologies, and effective communication strategies between health care

workers and patients. In addition, relevant medical databases (e.g.,

patient DNA data) need to be international, multilingual, and readily

accessible, crossing all socioeconomic boundaries. Academia, business,

biopharma, artificial intelligence experts, international governmental

agencies, and health care organizations will need to be at the table.

Most importantly, patient voices need to be heard and honored, giving

advocacy groups a central role.

during this podcast, our diverse panel of thought leaders will

tackle these issues and suggest a path forward for reforming and

rethinking how rare disease detection and diagnosis is done.

with:

William A. Gahl, M.D., Ph.D. (National Institutes of Health, Bethesda, MD)
Cristina Casanova Might, B.S., M.B.A. (Undiagnosed Diseases Network Foundation, Birmingham, Alabama)
Avril Daly (EURORDIS, Paris, France)
Charlene Son Rigby, B.A., M.B.A. (RARE-X, Aliso Viejo, CA)
Moderator: Sean Sanders, Ph.D. (Science/AAAS, Washington, DC)

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