There’s a good chance that you haven’t heard about a rare condition called chromhidrosis. In a nutshell, the person afflicted with the disease produces colored sweat, from yellow to green, even red ...

VHL, a genetic cancer condition, recently was featured on "Grey's Anatomy." Feb. 10, 2011 — -- In a multi-episode arc on "Grey's Anatomy," actor Scott Foley plays a von Hippel-Lindau (VHL) ...

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...

For Americans living with rare diseases, the Rare Pediatric Disease Priority Review Voucher Program is a vital tool. Yet its reauthorization is at risk.

Gene therapies for rare diseases are frequently developed then discarded by drug companies because they can’t afford to produce the treatment for more patients. Gene therapies for rare diseases are ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to a unique genetic mutation to save an infant named Baby KJ from dying of a ...

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare Diseases Clinical Research Network: $7.4 million over five years to renew the ...