Emma was diagnosed late with the rare syndrome which only affects around one in every 18,000 people in the UK.

During the Boston Globe’s Rare Disease Summit, Dr. Wendy Chung, a physician-scientist and geneticist who leads the Department ...

FDA moves to help those with rare diseases, think twice before at-home genetic testing and a little-known eating disorder ...

Dobby's case stands out because of how clearly visible the difference is. Cats already rely heavily on their ears to ...

The 7-month-old black kitten has a rare genetic mutation causing a curled tail and underbite, and he’s ready for adoption after surgery ...

A mother from Belleville hopes to raise awareness about Lafora body disease, an ultra-rare disease her son is battling that ...

Yet two young children saw a rare albino squirrel in a churchyard, according to a BBC story. The two children were counting ...

UB will will host its annual Rare Disease Day event from 1-5 p.m. on Friday, Feb. 27, in the Jacobs School of Medicine and Biomedical Sciences, 955 Main St., Buffalo.

IRSF investment positions organization at the forefront of early-stage Rett research as genomic medicine reshapes rare ...

The UK Rare Diseases Framework, led by the Department of Health and Social Care, also helps drive collaborative progress ...