Episode Details

In medical school, when taught about differential diagnoses, students are often taught, "if you hear hoofbeats, think horses, not zebras” says Rebecca Aune, the Director of Education Programs at National Organization for Rare Disorders (NORD).NORD, she says, represents twenty-five million American zebras living with rare diseases every day, many of whom undergo a deeply frustrating and isolating odyssey as they seek an accurate diagnosis. The reasons for this are numerous, Dr. Edward Neilan, the organization’s Chief Medical and Scientific Officer, tells host Michael Carrese. But NORD is working to address many of these problems at once -- at the level of the patient, the doctor, the research, and the medical system as a whole. Tune in to hear how a 1980s law dramatically increased research into rare disorders, how the human genome project has revolutionized their treatment, and what a future of better diagnostics could look like.

Mentioned in this episode: https://rarediseases.org/

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