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 ...

"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 nature—a mutation in a gene known as a SYNGAP1—the non ...

Wounded and elderly patients are being evacuated by train from embattled east Ukraine - Copyright AFP Ishara S. KODIKARA Wounded and elderly patients are being ...

Everyone’s favorite little blue pill may offer more than just a boost in the bedroom. New research suggests the erectile ...

An influencer who shared his health battles with a genetic disease that left him under three feet tall has died at the age of 33. Colombian content creator Alejo Little, who shared his struggles with ...

Life-saving treatments for children with orphan illnesses often move slowly, if at all, through the federal approval process.

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

Yentli Soto Albrecht has a rare genetic form of ALS and is working on research at Penn that could one day prove life-saving.

Domestic cats are some of the most beloved pets in the world. Their mysterious nature, grace and unique character make them special human companions. However, for these pets to remain healthy and live ...

Horses are just as much a part of New Mexico’s story as green chile and balloons. One local startup is hoping their research ...