Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

Unstable proteins are the main drivers of many different heritable diseases, according to a new study, including genetic disorders responsible for the formation of cataracts, and different types of ...

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 ...

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 ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...