Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.

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

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at Charité—Universitätsmedizin Berlin, together with teams from ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to process fat,

A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a gene therapy trial.

St. Louis Families Unite for Rare Disease Day 2026 as Take Part Foundation Advances Critical Genetic Testing and

The prescription drug leucovorin is getting a label update, though it’s not what that the US Food and Drug Administration suggested might be coming during a White House briefing in September, when