Medicines in Development for Rare Diseases 2016 Report

PhRMA May 3, 2016

Rare diseases, when taken together, are not that rare at all. In fact, 30 million Americans, or 10 percent of the population, have one of the 7,000 known rare diseases, of which 80 percent are genetic in origin. Half of those affected worldwide are children. A disease is generally defined as “rare” when, by itself, it affects fewer than 200,000 people in the United States. However, many rare diseases impact significantly smaller groups of patients, sometimes as small as a few hundred.