Study explains long-standing question of why Huntington’s disease symptoms typically do not appear until midlife even though ...

Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to ...

A common antihistamine may offer hope for patients with a rare genetic disease that can lead to severe liver damage and ...

A more comprehensive multiethnic genetic risk score strongly predicted new cases of type 2 diabetes, including for people ...

Scientists are unraveling the mystery of what triggers Huntington's disease, a devastating hereditary disorder that strikes ...