This penguin’s features are very special and rare. @bbcearth explains, "This Gentoo penguin's stark white [color] is the ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation that sabotages one of the brain’s key protective enzymes. The discovery not ...

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

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 ...

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 ...

The Norton family is trying to raise awareness about pantothenate kinase-associated neurodegeneration, or PKAN, a rare genetic mutation which affects one's ability to walk and talk. Credit: ...