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 ...

The Telethon Undiagnosed Diseases Programme (TUDP), run by the Naples-based biomedical charity Fondazione Telethon, has ...

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

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

— The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, ...

The new policy acknowledges that biology is personal and that technology now allows medicine to be personal as well. The FDA aims to clear a path for patients (often children) with vexing genetic ...

Genome-wide association studies identify genetic overlap among disorders, providing evidence that their distinctions may be misleading One major difference between psychiatric disorders and purely ...

Forbes contributors publish independent expert analyses and insights. Recent breakthroughs in genetics research may have uncovered new genes underlying common psychiatric disorders. Schizophrenia and ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

"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 ...