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: ...

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 ...

Hundreds of millions of people worldwide are affected by rare diseases. Behind every case is a family enduring a diagnostic odyssey that can last for years. To improve how public health systems help ...

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 ...

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

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

The common misunderstanding is that rare diseases come only from genetic causes while in fact that is not true due too genes are inherited. Many rare diseases do have a genetic cause but there are ...

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: ...