It’s a race against a single genetic marker -- and musician turned biotech start-up CEO Casey McPherson says the stakes for ...

From life-altering genetic conditions to promising new treatments, here's what you need to know about 7 inherited diseases ...

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a ...

Blood proteins serve as crucial indicators of health and disease risk throughout development. Now, researchers at the ...

Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes are known to cause a range of skeletal disorders ...

The National Organization for Rare Disorders is a coalition of patient advocacy groups and the first national nonprofit that ...

Gene therapy represents a paradigm shift in modern medicine, offering unprecedented opportunities to combat diseases at their ...

PUMCH-GENESIS currently can flag possible rare genetic diseases or complex neurodevelopmental conditions promptly - Anadolu ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases ...

BGI Genomics' Indonesian joint venture NGI signed a partnership agreement for research collaboration with  Indonesian ...