Rare neuromuscular diseases often lack treatments because developing targeted drugs is slow, costly and risky for companies.

As the grandfather of a girl with a rare disease, I’ve learned that for families like ours, hope often comes not as a cure, but as a clinical trial: carefully designed but inevitably exclusive. My ...

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 ...

Mississippi is launching a Rare Disease Task Force within the Mississippi Rare Disease Advisory Council to study issues ...

Ultragenyx’s Rare Bootcamp gives families a roadmap to help drive research and develop new treatments for rare diseases.

One in 5 of the highest-revenue drugs of 2022 was exclusively approved for rare conditions, accounting for more than 7% of US pharmaceutical spending. Study Design: Cross-sectional study. Methods: ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

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

Hantavirus cases on cruise spark concern as rare, deadly virus spreads via rodents, causing flu-like symptoms that can ...