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

The story of Chernobyl has long carried a chilling epilogue: that the people who rushed in to contain the disaster doomed not ...

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...

No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...

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

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

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

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 ...

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 ...

Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible for autosomal dominant polycystic kidney disease (ADPKD), the most common ...