Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with ...

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 ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

A refined base-pair editor limits unintended neighboring DNA edits while maintaining strong correction of disease-causing mutations. The technology could advance treatments for cystic fibrosis and ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of researchers has discovered. Scientists from the University of Chicago, the ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

International team uncovers gene mutations that cause rare and aggressive cancer in both cats and humans. Their findings could provide a path to treatments for both species.

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 have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

Human eggs appear to be protected against a certain type of age-related mutation. In a small study, researchers found no signs that mutations accumulate in the mitochondrial DNA of human egg cells as ...