New technology enables the insertion of a large segment of DNA into a genome, potentially expanding gene therapy treatment ...

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 ...

Everyday DNA mutations can help us understand immune function and aging—and even mitigate harm caused by some inherited ...

For roughly one in ten people living with cystic fibrosis, the drugs that have transformed survival for most CF patients are ...

There are some genes that can promote cancer; they are sometimes called oncogenes, and in tumor cells, mutations are often found in these genes. When they are functioning normally, oncogenes are often ...

A gene known as CTNNB1 encodes for a crucial protein called β-catenin, which has an important role in controlling tissue repair and cell growth. If this gene and its protein are dysfunctional, it can ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. A team led by scientists at the German research ...

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 ...

An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in ...

In a recent study published in Genome Biology, researchers investigate the impact of a novel loss-of-function mutation in the oxidation resistance 1 (OXR1) gene on cellular functions, neurodevelopment ...