Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.
Prenatal genetic tests that can detect copy number variations, including those linked to autism, could raise tough questions for doctors and parents.
Twin brothers who have autism carry a non-inherited duplication that overlaps with 16p11.2, a chromosomal region that has been associated with autism. Their brother, who also has autism, has a nearby deletion within 16p11.2, according to a study published 11 January in the European Journal of Human Genetics.
Genes implicated in Tourette syndrome overlap with those involved in autism, according to an analysis of rare DNA duplications and deletions in people with the syndrome, published in the March issue of Biological Psychiatry.
An automated instrument can reconstruct fluorescently labeled mouse brains in less than a day, researchers reported 15 January in Nature Methods.
A new study uses data from more than 10,000 typical individuals to validate candidate regions implicated in schizophrenia.
Despite funders’ requirements to share mouse models after publication, many researchers hoard the animals for the good of their labs — and that could have an adverse effect on the field as a whole.
More than 70 percent of individuals lacking the autism-associated 16p11.2 chromosomal region are overweight or obese, according to a study published 20 September in the Journal of Genetics and Genomics.
Deletion of 22q11, a schizophrenia-associated chromosomal region, may activate previously silent mutations, according to unpublished work presented Sunday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.
Individuals who have autism show distinct patterns of gene expression in neurological pathways compared with their unaffected siblings, according to unpublished work presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.