Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

A previously unreported mutation in a gene critical for brain development is offering new clues to a rare and poorly understood intellectual disability disorder 1. In a 16-year-old patient in India, ...

Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO) ...

Comic books love the idea of genetic mutations unlocking hidden abilities, and real life has its own version of that story. A small number of rare medical conditions can create traits that look almost ...

"There's no upside to this kind of genetic erosion." ...

Edward G. Neilan from NORD discusses critical efforts to speed up therapy development for rare diseases lacking treatments ...