Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in previous studies have discovered one reason why: cells ...

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 ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

A rare but serious clotting disorder linked to certain COVID-19 vaccines and natural adenovirus infections has puzzled scientists for years.

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

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 ...

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause ...

An affordable new BRCA gene test has hit the market, but who should take it? — -- A new genetic testing kit that hits the market today is the most affordable, and arguably one of the simplest, ...

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth ...

How did horses become some of the greatest athletes in the animal kingdom? Researchers at Johns Hopkins Medicine may have found the answer, pinpointing a genetic mutation and evolutionary process that ...

The donor's sperm carried a mutation that causes Li-Fraumeni syndrome or LFS, one of the most severe inherited cancer predisposition syndromes. A recent case in Europe has reignited debate over the ...