A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...

The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals ...

The Priority Review Voucher (PRV) program is designed to incentivize rare disease drug development.

CNBC’s Becky Quick opened up about her 9-year-old daughter Kaylie’s diagnosis with a rare genetic disorder. On Thursday, January 8, Quick and CNBC launched their new initiative, CNBC Cares, to help ...