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

Nurture is more influential than nature when it comes to number of major diseases and premature death, according to a new study.Environmental factors are almost 10 times more important than genetic ...

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

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

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

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA ...

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

A study finds that lifestyle and environment influence health more than genetics. Smoking, income, and exercise shape disease ...

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

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

Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year ...

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