Here’s what experts know about NARS1 — the condition affecting Marley Mansour, a girl from North Texas — how it’s diagnosed, ...

Hopkins neuroscientist Richard Huganir is close to finding a potential life-changing treatment for kids with SYNGAP1-related disorders, but cuts to federal funding could delay or halt the progress ...

Silvana Santos' groundbreaking research uncovered Spoan syndrome, a rare genetic disorder affecting children in a remote ...

Obsessive compulsive disorder has many unknowns, including what causes it, why symptoms can differ so much between people, how medication and therapy for it actually work, and why treatment is ...

Musician Casey McPherson gave up his career to find a cure for his 9-year-old daughter Rose, who has an ultra-rare genetic ...

For years, families in a small Brazilian town, Serrinha dos Pintos, watched their children slowly lose the ability to walk, ...

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 ...

The gene-environment interaction of colon cancer and aspirin is unusual. It involves a mutation at a single location in the genome that has a big effect on colon cancer risk. The past 25 years of ...

Family history of heart disease means you need lower cholesterol numbers. Discover the specific targets that can save your ...

Marley Mansour, 11, is one of fewer than 100 people in the world with a particular mutation in the NARS1 gene. She's set to ...

A global study has identified 25 genes believed to cause obsessive-compulsive disorder, which researchers hope will help ...