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 ...

There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very ...

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 ...

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 ...

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 ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Frenchies are already adorable, but there’s one pup who is making waves on social media. He looks like a French Bulldog, because he is, but there’s a slight difference he has that most other pups of ...

People with these gene mutations line up with those who have, on average, lower educational achievements and poorer socioeconomic status – often seen in individuals with ADHD. While rare, the ...

While men may be able to have children much later than women, doing so could come with an increased risk of inherited disease for their children. Researchers from the Wellcome Sanger Institute have ...

Susannah Rosen was diagnosed with a KIF1A gene mutation at the age of 2½. Patients diagnosed with severe KIF1A gene mutations may live only into early childhood, while patients with mild symptoms can ...