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 with almost no way to intervene. Researchers have now traced that ...

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 ...

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

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 ...

"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 rare genetic variant that weakens MSI2 activity in blood stem cells, slowing clonal hematopoiesis ...

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

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 ...

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

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 ...