Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in California due to a trio of respiratory illnesses, including a new mutation of the common flu that ...

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 ...

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 ...

Researchers at the Translational Genomics Research Institute (TGen) have identified a genomic mutation that causes physical abnormalities and developmental delays in children. Upon analyzing the ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

Ecuadorean doctor Jaime Guevara Aguirre, examines patients Maritza Valarezo (L) and her sister Lugartda, both with Laron syndrome, during a consultation in Quito, on January 11, 2014. Physician and ...

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