In rare diseases, rare mutations have long been thought of as the only contributor. Genetic analyses of people with such conditions now suggest that the effects of common genetic variants can stack up ...

Human geneticist David Goldstein, PhD, wants to make economically viable medicines for rare diseases with unmet needs. “We start out not knowing what a patient has, find out what they have, and tell ...

Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes ...