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

The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

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 ...

One of the most important developments in breast cancer, especially for people with hormone receptor-positive (HR+) advanced ...

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

Parkinson's disease researchers say they have discovered a genetic mutation in a small protein that could produce new treatments for the debilitating brain disorder. Chinnapong - stock.adobe.com ...

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 ...

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 ...

For the first time, DNA mutations in liver cells have been identified that impact metabolism and insulin sensitivity in patients with liver disease. These mutations are specific to liver disease that ...

Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have ...