A massive new genetic analysis reveals that the biological traits underlying autism risk are the same across people of ...

There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very ...

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 scientist diagnosed with an ultra-rare form of ALS linked to a CHCHD10 gene mutation is now enrolled in a one-of-a-kind ...

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

Comic books love the idea of genetic mutations unlocking hidden abilities, and real life has its own version of that story. A small number of rare medical conditions can create traits that look almost ...

(CNN) — 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 ...

A rare breed of hunting dogs known for its forked nose, the Turkish Pointer, might just help scientists better understand why human babies are sometimes born with facial clefts. In a recent study, ...

Are we evolving to be more stupid? Humans have a relatively high genetic mutation rate, which has been thought to be driving ...