Millions of people around the world live with rare diseases, most of them caused by a misstep in their genes. Some conditions ...

Many diseases are caused by a missing or defective copy of a single gene. For decades, scientists have been working on gene ...

Scientists from Adelaide and the United States have made a surprising discovery about a rare form of arthritis. They found ...

LEBANON, Ohio (WKRC) — A local family is asking for the community's help in their fight to find a treatment for a devastating disease ... Sanfilippo is a rare genetic condition, often compared ...

Hantavirus is spread by fluids, droppings from rodents. It's the disease that killed Betsy Arakawa, Gene Hackman's wife.

Creutzfeldt-Jakob disease is a serious brain disorder caused by a ... It can also be inherited by family members, and in "very rare cases," it can be spread through certain medical exposures ...

You don’t know how to stop it or how to get her the help she needs because very few people have ... Sofia Manfre was diagnosed with a rare genetic retinal disease called Leber Congenital Amorosa ...

Rodriguez is trying to change that by connecting patients with genetic ... “Most rare disease data has been collected from people of European ancestry, so we have very little knowledge about ...