Maria Baum was born with Williams syndrome, a genetic neurodevelopmental disorder strongly linked to cardiovascular disease ...

A woman says a volleyball accident revealed a rare genetic condition that leaves her with 13 tumors. McKinnon Galloway, 33, ...

The U.S. Food and Drug Administration on Tuesday approved leucovorin, a synthetic form of vitamin B9, as a treatment for a rare genetic condition that causes folate deficiencies in the brain. The ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

SMA is a rare genetic disease that destroys motor neurons — the cells that control movement, swallowing, and breathing.

Gaucher disease, a rare genetic disorder, often goes undiagnosed due to symptoms mimicking common ailments. Affecting the spleen, liver, and bones, it's also linked to an increased risk of Parkinson's ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Although the window for Rhythm Pharmaceuticals’ Imcivree to break out of the genetic obesity realm is quickly approaching with an upcoming FDA decision, a few other potential areas of expansio | The ...

A Beaverton family that has spent years searching for a replacement gene for their son’s rare genetic disorder says they are ...

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome.

Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...