Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

With a rate of mutation 35 percent higher than random chance, this previously unknown weakness could be a major vector for ...

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.

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 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 ...

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 ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

Now, researchers have identified one of these mutations, named SIK3-N783Y, in a human super-sleeper. The team then studied the mutation in genetically modified mice and found that the mice carrying ...