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 ...

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, ...

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

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 FDA has cleared the IND for Ensoma's EN-374, targeting X-linked chronic granulomatous disease (X-CGD), a rare genetic ...

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 little town in South America is being ravaged by a mysterious problem as many local children have reportedly lost the ...

People may be paying a hidden price for living close to a golf course. Recent research has found a link between golf courses ...

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body − and can clarify how diseases develop.