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 ...

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 ...

Using cortical organoids from individuals with autism, researchers tracked gene activity over development. Early ...

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 ...

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 ...

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