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

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

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

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

Many psychiatric disorders are more biologically related than previously understood, having more genetic similarities than differences, a new study shows. More research is needed to understand how ...

If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her ...

Weizmann Institute study finds genetics may account for about 50 percent of human lifespan, more than double previous estimates.

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

Nick Jonas' neighbour Maya Kibbel recently died of Wilson's disease at the age of 30. The disease is a rare genetic disorder where copper gets accumulated in the body, affecting different organs.

The symptoms the patient’s son described didn’t fit the usual diagnosis of Parkinson’s disease. The family noted mood changes, including outbursts of anger. When the patient ...