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

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal dementia. The discovery, published today in Nature Genetics, provides a biological entry point for a disease subtype that has been difficult to study.

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

Researchers identify a repeat expansion in the GOLGA8A gene as a major genetic driver for a rare, early-onset form of frontotemporal dementia.

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,

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health

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

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.