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 ...

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

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

A new study published in Nature in the paper, “Developmental convergence and divergence in human stem cell models of autism,” provides new insights by demonstrating that while different mutations ...

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 ...

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 ...