A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in New Jersey due to a trio of respiratory illnesses that typically rise this time of year, as well as a ...

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

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 ...

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

(SALT LAKE CITY)—A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder – until her 6-year-old son was diagnosed with the same illness.

Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...