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6,000, 7,000, 10,000? Why Counting Rare Diseases Is So Difficult

 
• By Derrick Gingery

FDA, NIH, sponsors and others use different figures, but some want everyone will settle on 10,000 for policy discussions, advocacy and research.

consensus
Advocates also want to verify the number of US patients with a rare disease and the number of rare diseases with pediatric onset. • Source: Shutterstock

Everyone in the pharmaceutical ecosystem agrees that developing treatments for rare diseases is important and challenging. There's a lot less consensus about how many rare diseases there are actually are, however. The US Food and Drug Administration website says there are more than 7,000 rare diseases affecting patients in the US. The National Institutes of Health said 7,000 last year, but now says 10,000.

Rare disease sponsors also disagree: Takeda Pharmaceutical Co. Ltd. says on its website that there are 6,000 known rare...

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