Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast ...

Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic ...

Autism spectrum disorder, also known simply as autism or ASD, is a developmental disorder that can vary widely from one patient to another. It can affect how people behave, socialize, or communicate ...

All people have two copies of every gene – one copy inherited from each parent. The NF1 gene mutation is dominant, which means that only one of the two copies of the gene needs to have the mutation to ...

Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...

Cancer is often thought of as a single disease. Yet even tumors that arise in the same organ can follow very different ...

Scientists have identified a genetic mutation in a gene called SHLP2, which encodes for a microprotein in mitochondria, and can reduce a carrier's likelihood of developing Parkinson's disease by 50 ...

A team of geneticists and animal welfare specialists from the U.K. and one from the U.S. has identified the genetic mutation responsible for a newly discovered cat coat color pattern in Finland. In ...

Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among ...

Research on Tourette’s indicates that the condition is strongly influenced by inherited genetic factors, with environmental factors also contributing to its development. Tourette syndrome is a ...

Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most ...

Most common forms of strabismus tend to run in families. But the genetics of strabismus are complex, so it’s not always simple to predict whether a child will inherit the condition. Strabismus is a ...