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

The Jensen family is hosting a fundraiser on June 5 to raise money for the KCNT1 Epilepsy Foundation, which helps research a ...

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

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation.

Marley is set to make medical history as the first person in the world to receive treatment for NARS1, a rare genetic disorder. (Juan Figueroa / Staff Photographer) Imagine facing a condition so ...

director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, in a statement from the hospital. Soon after his birth last summer, KJ was diagnosed with severe carbamoyl ...

Mansour is set to make medical history as the first person in the world to receive treatment for NARS1, a rare genetic disorder. (Juan Figueroa / Staff Photographer) An 11-year-old from Rowlett is ...

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 ...

April 29 (Reuters) - The U.S. Food and Drug Administration approved Abeona Therapeutics' (ABEO.O), opens new tab gene therapy for a rare skin disorder on Tuesday. The gene therapy, called Zevaskyn ...

One Faribault, Minnesota, woman says every day is simply a "gift" as she's the only known person in the world with her unnamed genetic disorder. "I was told that she probably wouldn't make it past ...