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 ...

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 ...

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

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

Additionally, it was found that defects in the ADNP gene cause ADNP syndrome, a rare genetic disorder associated with developmental delays, learning disabilities, and symptoms of autism.

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.

Extensive genetic testing is recommended for all children with epilepsy, unexplained developmental delays, autism and ...

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 ...