Evidence is mounting that clinicians can treat serious genetic disorders prenatally by injecting medicine into the amniotic ...

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

The scientists at the University of California, San Francisco and Johns Hopkins University in Baltimore injected an antisense ...

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

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 ...

A Phase I/II trial is set to assess the therapy’s potential efficacy and safety, as well as determine an appropriate dose.

Imagine facing a condition so rare that fewer than 100 people in the world are known to have it — a disorder that can disrupt ...

Sitting in my doctor's examination room, I was surprised when she told me, "Genetics don't really matter for chronic disease.

Using a method known as genome-wide association studies, the researchers scanned genomes to identify genes driving OCD.

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

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

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