About 1 in 500 children referred to genetic testing for undefined developmental delay, intellectual disability, or autism have duplications of the 15q11-13 chromosomal region, according to a new analysis. That makes the region the second most common large genetic alteration linked to autism.
Spectrum: Autism Research News
Genes and the environment each influence the role of the other in determining the risk of developing autism. Genetics can determine how susceptible one is to the environment, and environmental factors can influence gene expression and introduce mutations, says immunologist Janine LaSalle.
Researchers plan to develop pig models of Prader-Willi syndrome, an inherited disorder caused by the deletion of an autism-linked region of chromosome 15.
Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.
Concerned by researchers’ lack of access to a valuable mouse model of autism, a nonprofit advocacy group is dedicating a chunk of its limited resources to the creation of a freely available version.
Amyloid-beta, the small protein that forms plaques in the brains of people with Alzheimer’s disease, is more prevalent in postmortem brains from individuals with autism than in those from controls, according to a study published 2 May in PLoS One.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.
By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.
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.