The world is experiencing a hidden epidemic with kidney disease. More than 850 million people worldwide have some form of ...

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 ...

Genentech is halting development of an antibody for two rare genetic diseases after the candidate failed to boost muscle growth, raising questions about whether the molecule can preserve muscle in two ...

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 ...

Gaucher disease is a rare inherited disorder in which fatty substances accumulate inside certain cells, gradually damaging organs such as the spleen, liver and bones. The condition occurs due to a ...

Scientists in China have developed a "capsule" delivery system to transplant healthy mitochondria into diseased cells, a breakthrough that could lead to new treatments for Parkinson's disease, rare ...

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

Genetic diseases are notoriously challenging to treat, especially when each condition requires a tailored approach. With over 10,000 known genetic disorders, developing individual therapies for each ...

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

A Marion woman is celebrating a victory for those suffering from rare diseases across the state after securing a proclamation from Governor Andy Beshear declaring December 2025 as Brooke-Spiegler Synd ...

"Watching my mom die of ALS was one of the most awful things I’ve gone through. I don’t want my children to see me suffer ...