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

Genome editing is revolutionizing the medical landscape by offering new therapeutic possibilities for genetic diseases, which collectively affect hundreds ...

Mitochondrial disease is a rare and complex genetic disorder that affects people in different ways. There is currently no ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

"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 ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual ...

Gaucher disease is an underdiagnosed genetic disorder; early detection and treatment can prevent complications and ...

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 ...

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 ...

Research into ancient DNA samples has discovered that those who carry genes for red hair also are have immune benefits — but ...