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 ...

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

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 ...

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: ...

The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, correctly identifying diagnoses more often than doctors in a direct ...

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

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

Jason Mast is a general assignment reporter at STAT focused on the science behind new medicines and the systems and people that decide whether that science ever reaches patients. You can reach Jason ...

Rare neurology is entering a pivotal moment. Scientific understanding is accelerating, new technologies are maturing, and the patient need remains profoundly unmet. As the biopharmaceutical community ...