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 ...

A team of doctors at the Children's Hospital of Philadelphia and Penn Medicine treated a baby with a gene editing technology ...

But his daughter, who was diagnosed with an ultra-rare genetic disorder in 2019, has lost the ability to speak. “She screams and giggles and cries and makes noises and sounds, but she doesn't ...

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 ...