New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

Among the most famous demonstrations of genetic mutations driving infection outcome is severe combined immunodeficiency (SCID ...

Testing is essential when confirming a hemophilia diagnosis. The process includes a physical exam and blood-clotting factor ...

Researchers have discovered a mechanism in DNA that regulates how disease-causing mutations are inherited. The team identified two enzymes that regulate a chemical modification, 6mA, in mitochondrial ...

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 ...

Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of ...

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

Geneticists looking inside the nuclear genome for mutations that contribute to disease have long relied on a principal known as constraint modeling, which allows researchers to assess the degree of ...