Researchers have sequenced 17 laboratory mice and mapped 56.7 million single-base DNA variants in their genomes, according to a study published 15 September in Nature. A companion paper in the same issue identifies more than 700,000 structural variants, which are insertions, deletions or other modifications of DNA.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Two studies published in the past month highlight the challenges in balancing the accuracy of autism diagnosis with cost-effectiveness and speed.
In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.
A technique for detecting gene expression that detects short RNA messages is better suited than traditional methods for analyzing postmortem brain tissue, according to a study published 10 September in BMC Genomics.
Postmortem brains from adults with autism have lower-than-normal levels of the fragile X mental retardation protein, which is missing in individuals with fragile X syndrome.
A well-studied mouse model of autism has a smaller-than-normal volume in several autism-associated brain regions.
A five-minute online questionnaire can diagnose autism with as much accuracy as the so-called gold standard diagnostic tests, according to unpublished findings presented Tuesday at the Autism Consortium 2011 symposium in Boston.
A massive association study links five new genetic regions to schizophrenia and implicates MIR137, a regulatory RNA that plays a role in neuron development, in the disorder.
In families that have more than one child with autism, the middle children, particularly those born second, have a higher risk of developing autism than other children in the family, according to a study published 19 October in PLoS One. In families that have only one child with autism, however, risk of the disorder rises with each additional birth, the study found.