Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

During the Boston Globe’s Rare Disease Summit, Dr. Wendy Chung, a physician-scientist and geneticist who leads the Department ...

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

The addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Thousands of children with severe developmental disorders have benefited from more targeted treatments and support with genetic insights from the large-scale Deciphering Developmental Disorders (DDD) ...

A rare inherited neurodevelopmental disorder has been officially named after an Abu Dhabi-based geneticist at Burjeel Medical ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...