SFARI director Gerald Fischbach comments on the year’s most notable papers.
Spectrum: Autism Research News
Tag: Simons Simplex Collection
By merging genetic data from two large clinical repositories, from a total of more than 30,000 children, researchers have identified 18 copy number variants (CNVs) — DNA deletions or duplications — that play a role in autism. The findings appeared 9 October in Molecular Psychiatry.
A new candidate gene for autism, CHD8, may account for up to 0.4 percent of cases of the disorder, according to research published today in Science. CHD8 is one of six genes identified that together may contribute to one percent of autism cases.
Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.
Parents enroll their children in genetic research studies because of the opportunities to meet other families in the same situation, take control of their circumstances, and validate the medical nature of their child’s condition, according to a report published 11 July in the Journal of Autism and Developmental Disorders.
Researchers have launched an effort to yoke together disparate gene sequencing projects in the U.S., Canada and the U.K., aiming to double the number of known autism-related genes in the next three to four years.
Analyzing how mutations in people with autism affect gene expression in blood-derived cells could help researchers pinpoint harmful mutations, according to research published 21 July in The American Journal of Human Genetics.