It took a while for the science to basically catch up to that suspicion.” In these types of “recessive” conditions, the ...

Neurologists have discovered a genetic mutation that may protect the brain from dementia. Francisco Lopera, a researcher at the University of Antioquia in Colombia, has spent almost forty years ...

When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

For the first time, scientists have discovered how a gene mutation can cause heart disease in adults despite normal cholesterol levels and no other risk factors. Researchers at the University of Texas ...

In two separate studies, German researchers have identified the single-gene mutation that can lead to the incurable autoimmune disease lupus. The discovery opens the door to developing new therapeutic ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

Researchers develop a single genome-editing strategy to treat multiple disorders caused by nonsense mutations, promising efficient and cost-effective therapies.

The DNA damage from ionizing radiation (IR) erupting from the Chernobyl nuclear disaster of 1986 is showing up in the ...