Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation. At spots where RNA polymerase 'opens' your DNA to read and copy instructions – known as ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

Genetic mutations aren't always a bad thing. A groundbreaking new study suggests that mutations on a single gene may actually be beneficial when it comes to Alzheimer’s disease. For the study, Dr.

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

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

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 ...

A genetic mutation passed from mother to children in families affected by schizophrenia has now been shown to completely ...

Scientists at UCLA and the University of Toronto have developed an advanced computational tool, called moPepGen, that helps identify previously invisible genetic mutations in proteins, unlocking new ...

A major medical milestone took place in May 2025, when doctors at the Children’s Hospital of Philadelphia used CRISPR-based gene editing to treat a child with a rare genetic disorder. Unlike earlier ...

Two key gene variants may have made early domesticated horses more tame and more physically resilient to bearing a rider, researchers report August 28 in Science. The resulting horses were among the ...