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

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

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 ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

The study, published in Genomic Psychiatry, reveals that an inherited change in the brain can completely block the function of the trace amine-associated receptor 1 (TAAR1), a receptor targeted by ...

Rutgers neuroscientist Peng Jiang and his neuroscience colleague Mengmeng Jin have made a discovery they say could reshape how scientists think about Alzheimer's treatment. Subscribe to our newsletter ...

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 ...