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

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most ...

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 ...

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

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

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 ...