Rare Disease

What is a rare disease?

A rare disease is a condition that impacts less than 200,000 people in the U.S, as defined by the 1983 Orphan Drug Act. In total, about 25-30 million people in the U.S. live with a rare disease, though this statistic is difficult to define since there isn’t tracking for many rare diseases.  

There are over 10,000 rare diseases, including cystic fibrosis and multiple sclerosis, according to the Genetic and Rare Diseases Information Center. The exact cause of many rare diseases remains unknown, but many can be traced to genetic mutations.   

Why is the term “rare disease” important to healthcare?

The term “rare disease” is important because it effectively categorizes uncommon conditions, qualifying them for financial incentives for drug development under the Orphan Drug Act. This has progressed the prevention, diagnosis and treatment of many rare diseases.