"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve ...

Some "sleeping beauty" syndrome sufferers can't wake up for weeks. August 13, 2010 -- When he was in high school, Eric Haller was a first-string center on the football team and also played on the ...

Anna Gray, 27, was diagnosed with a rare disorder called Fowler’s syndrome Anna Gray/SWNS Anna Gray went to the hospital numerous times after being unable to urinate by herself, even with laxatives ...

Half of all babies diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency die within their first week of life Getty KJ Muldoon was diagnosed with severe carbamoyl phosphate ...

A 52-year-old woman from The Hague in the Netherlands suffers from a rare neurological disorder where she sees distorted faces of people. According to a report published in The Lancet, the woman ...