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Rare Disease Research Opens Many Doors

Rare diseases are a paradoxic — they are both uncommon and common. And understanding them may help us to gain insights into more ordinary diseases.

If a disease affects fewer than 200,000 people in the United States, it is considered a rare disease. But there are an estimated 5,000 to 8,000 rare diseases. In a country with 329.5 million people, this means roughly 1 in 10 Americans likely has a rare disease. And more than 300 million people globally are estimated to live with a rare disease.

While each rare disease may be an individual rarity, having a rare disease is more common than one may think.1 As genomic techniques advance, it is expected that the actual number of known rare diseases may expand to more than 10,000 . . .

Published on Sanguine BioScience’s researcher blog on April 19, 2022