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 ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

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 ...

A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.

"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 ...

Scientists have uncovered a surprising genetic workaround that helps cells cope with Friedreich’s ataxia, a rare and devastating disorder.

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 ...

During development of the digestive system, a complex network of nerves forms around it, creating a "second brain"—the ...