This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of rare kidney diseases by providing educational resources.

Rare disease clinical trials are smaller and often use surrogate endpoints, reducing costs but posing unique operational ...

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

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 ...

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 ...

Discover the mysteries of rare diseases in "25 BIZARRE DISEASES Science Still Can't Explain!" WATCH OUR OTHER VIDEOS: ►25 Weird Facts About The Human Body <a ...

By determining the structure of the deposits responsible for transthyretin amyloidosis through a simple skin biopsy, ...