For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

A new federal proposal aimed at speeding approval of gene therapies for ultra-rare diseases could offer renewed hope to North Texans like Kasey and ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Researchers used genome-wide CRISPR screens to identify genetic diseases responsive to vitamins B2 and B3. In mice lacking ...

By the 1890s, just as the medical world was beginning to understand that invisible microbes caused infectious diseases, the idea that a missing ...

Florida state Rep. Adam Anderson championed the Sunshine Genetics Act, the first state-backed genetic disease screening program in the nation. Anderson's son, Drew, died in 2019 from Tay-Sachs disease ...