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

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Some lucky people have rare genetic mutations that enable them to feel well-rested after just four hours of sleep, while the rest of us need around eight hours to function. Now, researchers have ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Researchers identified a new genetic mutation that may allow some people to survive, even thrive, on three hours of sleep. The mutation is called SIK3-N783Y. Scientists said mice test subjects ...

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...