The human genetic code is fully mapped out, providing scientists with a blueprint of the DNA to identify genomic regions and their variations responsible for diseases. Traditional statistical tools ...

A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

(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.

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

(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 ...

Tel Aviv University researchers have made a remarkable discovery that could revolutionize our understanding of genetic mutations and their role in brain development. The study, published today in ...

The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...

Three genetic alterations associated with a rare seizure and a movement disorder primarily found in children were successfully mirrored in mice and their symptoms treated, in a new study from a ...

Obsessive-compulsive disorder (OCD) is a psychiatric disorder affecting one percent of the U.S. population, but the underlying causes of OCD remain relatively unknown. However, recent research has ...