TAMPA, Fla. - A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe brain injury and death in healthy patients undergoing routine ...

People with a rare genetic disorder that damages the amygdala are helping neuroscientists rethink how the brain shapes fear, ...

Researchers at the Icahn School of Medicine at Mount Sinai have found evidence that people who fall at the extreme high or ...

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 ...

GRAND RAPIDS, Mich — There is a rare gene mutation linked to sudden cardiac death and heart failure called phospholamban (PLN). It may not be very common worldwide, but likely more so in West Michigan ...

Extreme values for cholesterol, glucose, and height are driven by rare, high-impact genetic variants rather than polygenic ...

Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic variants that play a role in the development of motor neuron disease (MND).

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 ...