By official definition, a “rare disease” is a condition afflicting less than 200,000 people in the United States, though taken altogether rare diseases affect approximately 30 million people in the U.S. alone — about 1 in 10 persons.
Scientists have documented more than 10,000 rare diseases, with unfamiliar names ranging from abetalipoproteinemia to Zollinger-Ellison Syndrome. Some diseases account for fewer than a dozen known cases worldwide.
Rarity is a curse because it means few physicians see afflicted patients, resulting in misdiagnosis or delayed diagnosis. On average, persons with rare diseases wait nine years to finally receive an accurate diagnosis. Compounding the problem: the relative scarcity of patients means it’s harder to study the diseases and conduct necessary research and trials to develop treatments.
Half of all rare disease cases involve children, of which one-third will die before they are 5 years old, before doctors even figure out what killed them. There are no approved therapies for 95% of rare diseases, but the fact that roughly 80% of rare diseases have a genetic basis suggests an encouraging path toward therapeutic remedies.
Rare Diseases
Research at Sanford Burnham Prebys
Experts Available
Hudson Freeze PhD
José Luis Millán PhD
Duc Dong PhD
Media Contacts
Greg Calhoun
(586) 530-9706
gcalhoun@sbpdiscovery.org
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