A rare, genetic disorder that's often misdiagnosed as autism is robbing a young Southern California girl of her life.With no ...

The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare ...

KJ Muldoon was born with a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies.Credit...Muldoon Family Supported by By Gina Kolata Something was very wrong with ...