A large-scale genetic analysis has identified 36 genes carrying rare mutations that substantially increase the likelihood of developing obsessive-compulsive disorder, chronic tic disorders, or both.

Add Yahoo as a preferred source to see more of our stories on Google. Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by ...

Scientists at the University of California San Diego have uncovered how genetic mutations cause a rare group of inherited neuromuscular disorders and identified promising new strategies to correct ...

When a patient's DNA is read, it is compared with a reference version of the human genome. This allows geneticists and rare disease experts to look at a list of places where the patient's DNA differs.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Rutgers neuroscientist Peng Jiang and his neuroscience colleague Mengmeng Jin have made a discovery they say could reshape how scientists think about Alzheimer's treatment. Their study, published in ...

Add Yahoo as a preferred source to see more of our stories on Google. Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation. At spots where RNA ...

In a finding that could reshape how clinicians think about one of the rarest neurodevelopmental disorders on record, a team ...

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

Learn how personalized genetic therapy helped researchers treat two children with a rare form of epilepsy, enabling one to walk independently for the first time. Two children who have had to endure ...

An international team of researchers has identified a genetic cause for a rare inflammatory skin condition. The investigators report in the journal Nature Immunology that a mutation in the gene OTULIN ...