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.
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)