By analyzing stem cells derived from baby teeth, researchers have tracked a child’s autism to mutations in a gene called TRPC6. The molecular saga highlights a painless way to probe the role some genes play in autism.
Spectrum: Autism Research News
Tag: common variants
A new computational approach predicts how sequence variations in both the coding and noncoding regions of a gene affect the gene’s expression. The method, described today in Science, may help researchers understand how specific variants contribute to disorders such as autism.
Boys with autism who carry rare, spontaneous mutations have lower intelligence quotients and more severe symptoms than do those who may have inherited the disorder. The finding, published 21 October in the Proceedings of the National Academy of Sciences, hints at two classes of autism risk with varying severity.
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.
Researchers have mined the medical records of more than 100 million people and found close to 3,000 associations between single-gene diseases, such as cystic fibrosis, and complex genetic disorders such as autism. The results were published 26 September in Cell.
A new method of genetic analysis allows researchers to identify regions that are identical on both copies of a chromosome, according to a study published 20 September in Molecular Cytogenetics.