Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say. When you purchase through links on our site, we may earn an affiliate commission. Here’s ...

Patients with BRCA-mutant breast cancer had a significantly higher risk of breast implant-associated anaplastic large-cell lymphoma (BIA-ALCL), a large cohort study showed. BRCA1/2 mutations conferred ...

The risk of older fathers passing on disease-causing mutations to their children is higher than we thought. Genome sequencing has revealed that among men in their early thirties, around 1 in 50 sperm ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

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 ...

While men may be able to have children much later than women, doing so could come with an increased risk of inherited disease for their children. Researchers from the Wellcome Sanger Institute have ...