After Hiding My Undiagnosed Neurological Condition for Decades, I Finally Found Answers ...

This Is the Rarest Hair and Eye Color Combination in ... "Sturge-Weber syndrome is a rare neurological disorder present at birth and characterized by a wine-stain birthmark on the forehead and ...

Forty-thousand -- that's the number of children and adults in America with cystic fibrosis, or "C-F."It's a genetic disorder ...

For years, a disease with no name slowly stole one man's sight—until his son’s diagnosis finally provided the answer. Their journey highlights the power of rare disease  research to crack some of ...

This previously untreatable genetic disorder, which affects some two to ... In the new study, the researchers have focused on one of the rarest—and previously untreatable—flavors of LCA ...

Prince Frederik of Luxembourg has died at the age of 22 from POLG mitochondrial disease, a rare genetic disorder that he was born with, his family announced. Frederik de Nassau died in Paris on ...

The U.S. Food and Drug Administration approved treatment for 11 patients with the rare familial ALS caused by mutations in ...