Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

When a child’s symptoms stump one specialist after another for years on end, families describe the experience as grueling and ...

Phoebe Tesoriere, 23, of Cardiff, Wales, said she had balance problems as a child and was tested for a condition called ...

A mother has launched a desperate appeal for stem cell donors to save her two young sons, who are battling a rare and ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

"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 ...

In 1993, 25 years after her family launched their foundation, the group of scientists they supported finally identified the ...

Many psychiatric disorders are more biologically related than previously understood, having more genetic similarities than differences, a new study shows. More research is needed to understand how ...

For centuries, mental illness and physical disease have been viewed as two distinct categories, each with its own field of study, its own doctors, and its own menu of treatments.

Despite widespread misconceptions, eating disorders aren't a choice, they're serious, potentially life-threatening conditions. While social and environmental factors do influence someone's risk of ...