Research

A rare disease is a disease affecting fewer than 200,000 individuals in the United States (per the Rare Diseases Act of 2002). Progress in data science and an increased understanding of disease genetics lead experts to agree that more than an estimated 10,000 rare diseases are affecting millions of people in the United States.

Most rare diseases pose serious health risks, often threatening lives and causing major illness. The majority of rare diseases impact children. Despite growing scientific knowledge about the causes and progression of rare diseases, fewer than 5% have approved treatments. NIH is collaborating with multiple partners to speed up the development of effective treatments.