Leigh syndrome is a rare metabolic disorder that begins in childhood and causes severe neurological and muscular problems. The disease has long been considered untreatable. In a pilot study involving ...

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

‘I’m 12 and had a heart transplant because of a disease that affects only 13 people in the world’ - At 11 years old, Trey Taylor found out he was living with an extremely rare form of muscular dystrop ...

Add Yahoo as a preferred source to see more of our stories on Google. Amid partisan clashes over federal funding and the disruption of a partial government shutdown, a long-awaited pediatric cancer ...

Every year in the United States, thousands of families face a devastating reality: Their child has a rare disease, but they won’t know it until it’s too late for effective intervention. Thirty percent ...

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

The path to understanding what goes wrong in cancer could benefit from a detour through studies of rare childhood diseases. Dr. Ayelet Erez explains that cancer generally involves dozens – if not ...

New Monash University-led research has, for the first time in Australia, found that children with an infection in the past 60 ...

There are currently no available treatment options for more than 90% of the approximately 7,000 rare diseases identified to date. However, if these conditions result from correctable cellular or ...

Amid partisan clashes over federal funding and the disruption of a partial government shutdown, a long-awaited pediatric cancer bill — years in the making — was quietly signed into law last week as ...

Amid partisan clashes over federal funding and the disruption of a partial government shutdown, a long-awaited pediatric cancer bill — years in the making — was quietly signed into law last week as ...