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

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

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 ...

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

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 ...

Autism spectrum disorder is complex; it present differently in different patients, and the causes are still unclear, even though hundreds of small ... | Genetics And Genomics ...

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 ...

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 ...

A genetic analysis of samples from the patient in Louisiana recently hospitalized with the country's first severe case of H5N1 bird flu show the virus likely mutated in the patient to become ...