An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

A local two-month-old baby has a road full of unknowns ahead of her after being diagnosed with a rare genetic condition. Kira ...

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

A newly identified and rare genetic variant slows the growth of mutated blood stem cells and reduces the risk of leukemia.

CNBC’s Becky Quick joins TODAY to talk about her daughter Kaylie's journey with SynGAP1, a rare genetic disorder that limits ...