Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how ...

He’s working with his favorite childhood scientist, Bill Nye, to shine a light on the importance of research for Friedrich’s ...

For Ms Miria Mukiibi Kibirige, that struggle is a daily reality. She cares for two children living with epidermolysis bullosa ...

ROWLETT, Texas — On a hot Texas day, 11-year-old Marley Mae Mansour bounces on a backyard trampoline with her brothers — a scene of childhood innocence that belies the extraordinary medical journey ...

With fewer than 600 cases worldwide, this skin disorder still sparks fear and stigma — but a dermatologist helps separate fact from fiction.

PHILADELPHIA — A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a ...

Since the 1960s, Texas has screened newborns for a variety of rare diseases — like sickle cell anemia and cystic fibrosis.

A rare genetic disorder leaves one little girl in constant danger. Feb. 22, 2008 — -- In many ways, Gabby Gingras is a typical 7-year-old girl. She goes to gym class with other second-graders, ...

KOS, a rare genetic disorder which affects fewer than 100 cases worldwide, killed her fourth baby. Read more at straitstimes.com. Read more at straitstimes.com.

Newborn babies will be routinely screened for a rare genetic condition, the NHS England has announced. Hereditary ...

The symptoms: The patient had been experiencing shortness of breath during physical activity for several weeks when she went to a hospital for evaluation. She also had a history of passing unusually ...

Former Top Chef winner Hosea Rosenberg shared an update on his daughter Sophie’s journey with an extremely rare and painful genetic disorder. The season 5 champ posted photos of Sophie, 8, via ...