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 ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...

Researchers have discovered a mechanism in DNA that regulates how disease-causing mutations are inherited. The team identified two enzymes that regulate a chemical modification, 6mA, in mitochondrial ...

Researchers now have thousands of new DNA mutations to study as possible causes of autism, thanks to an artificial intelligence-powered technique described in a study published May 27 in Nature ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

A group of researchers in the lab of Prof. Lucía Chávez Gutiérrez (VIB-KU Leuven) have unraveled the genetic contributions to familial Alzheimer's Disease development and revealed how specific ...

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 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 ...