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

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

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

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 ...

Common cause vs. special cause variation, aren’t they the same thing? At first glance, you’d be allowed to think so. However, as with any part of the production cycle, there is a reason for these two ...

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 ...