Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...

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 ...

A new study published in Nature in the paper, “Developmental convergence and divergence in human stem cell models of autism,” provides new insights by demonstrating that while different mutations ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

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

Unique mutations in the H5N1 strain enhance replication in human cells and cause severe disease in mice. The virus has spread from birds to mammals, including dairy cows, and infected humans, with one ...

The patient in Louisiana who was hospitalized with severe bird flu illness was found to have a mutated version of the virus, the U.S. Centers for Disease Control and Prevention (CDC) announced last ...

Scientists have revealed parts of the genome that are especially vulnerable to mutations that occur very early on in development. These areas are in the initial portions of genes, where the cell tends ...

Millions of birds in U.S. poultry farms and some cattle herds have been affected, but the overall risk to humans remains low. Still, a number of human cases have been documented as a new CDC report ...