Recent research from Michigan Medicine takes aim at the a variant in gene SCN1B, which causes a severe form of developmental epileptic encephalopathy.

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene ...

Black fur comes from a genetic mutation that was likely in domesticated dogs thousands of years ago. The dark fur is rare in Europe due to a reduced genetic diversity, but at least half of the ...

Blau syndrome is a rare autoinflammatory disorder characterized by a triad of symptoms: granulomatous dermatitis, arthritis, and uveitis. This condition is primarily caused by mutations in the ...

Their findings, published in Nature Aging, describe a never-before-seen link between the two most accepted explanations: random genetic mutations and predictable epigenetic modifications.

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

Health authorities and researchers are closely examining the mutations found in the virus extracted from the 65-year-old man, who was infected through contact with backyard birds contaminated by ...

"In addition, more research is also needed to assess whether these mutations in HA have had an impact on the late-wild bird lineage." H5N1 has been detected in 10,969 wild birds as of January 16 ...

Competing Interests: The authors declared no competing interests. Monogenic hypertension is caused by single gene mutations and accounts for a spectrum of familial forms of elevated blood pressure ...

If these DNA breaks aren't repaired, they can prompt cells to self-destruct, or failing that, become cancerous.As LIG4 syndrome impairs this response, people with the condition are particularly ...