A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

Cancer cells carry thousands of mutations, but not all mutations are created equal. Some make tumors highly visible to the ...

A research team has successfully demonstrated the world's first gene-editing treatment for Leber's hereditary optic ...

Australian researchers have discovered that a single mutation in the DNA sequence for a methylation enzyme dysregulates key tumor-suppressing pathways, opening up new avenues for blood cancer ...

Mitochondria are well known as the powerhouses of the cell because of their energy generating capabilities. These little organelles are very special, because they also carry their own tiny little ...

A Google DeepMind invention that uses artificial intelligence (AI) to predict how DNA mutations behave could have a ...

Bowel cancer cells have the ability to regulate their growth using a genetic on-off switch to maximize their chances of survival, a phenomenon that's been observed for the first time by researchers at ...

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 ...

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 ...

The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

A hallmark of Parkinson's disease is the buildup of Lewy bodies—misfolded clumps of the protein known as alpha-synuclein.

Genetic testing can confirm a muscular dystrophy (MD) diagnosis when symptoms and other tests already suggest MD. It also identifies specific gene mutations that can guide targeted treatment. Genetic ...