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

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

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 ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...

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 ...

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a ...

In our earliest science lessons, we learned that anything denser than water sinks. The denser something is, the more easily it sinks. This is seen in people who are more muscular, because muscle is ...

Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density ...

A CRISPR system detects rare cancer mutations in blood with single-nucleotide precision, outperforming ddPCR through engineered RNA guides and isothermal amplification. (Nanowerk Spotlight) Hidden ...