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

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

A clinical trial by Shionogi is a milestone in the search to treat Jordan's Syndrome, a rare genetic disorder named after a California lobbyist's daughter.

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 ...

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

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

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 ...

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 ...

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.