Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...

When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...

The Food and Drug Administration’s rare pediatric disease priority review voucher program, which has been providing incentives for lifesaving innovations since 2012, is doomed to disappear unless ...

Rare diseases reveal that our sense of identity rests on fragile biological infrastructure, much of it operating outside ...

US regulators laid out new guidelines for approving custom-made treatments for individual patients, a move that could bring ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to ...

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: ...

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 ...

This last week of February marks Rare Disease Day. This day aims to raise awareness of rare diseases and improve access to treatment. For four years, now 27-year-old Tayler Tennant was living with ...

This guest essay reflects the views of Scott D. Reich, of Port Washington, whose nonprofit is developing a treatment for FOXG1 syndrome while providing support to the broader rare disease community.