Researchers identified the earliest case of a genetic disease with the help of DNA: ...

AMD is one of the rarest documented genetic disorders. Only around 10 million people in the world carry the altered NPR2 gene, and of those, just 3,500 are estimated to display the physiological ...

Here are the world’s rarest and most bewildering medical conditions, disorders that defy logic, challenge science, and ...

A new study could help demystify a rare gastrointestinal condition that causes patients’ own bodies to produce alcohol, making them experience intoxication without drinking. Known as auto-brewery ...

Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains ...

Committee for Medicinal Products for Human Use (CHMP) issues a positive opinion following re-examination, which will be reviewed by the European Commission (EC), with a decision anticipated by March 2 ...

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 ...