A critically ill Scots boy was among a group of children who performed alongside Eurovision star Sam Ryder at Disneyland ...

If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic ...

In a major scientific breakthrough, researchers at Mayo Clinic’s Center for Individualized Medicine have identified a rare genetic mutation that can directly cause a common liver condition—metabolic ...

Work has begun in the UK on developing new tests that will spot if someone has “fat genes”. The project, which seeks to ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like ...

Ndeye Lam visits the cemetery often, praying and gently touching the seashells laid out across her daughter’s gravesite. And ...