The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.
Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.
A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.
Simon Fisher made headlines in 2001 for finding the first gene related to language. He has been following FOXP2 ever since, and has found that it is important in autism and other psychiatric disorders.
By analyzing the expression patterns of nine candidate genes for autism, researchers have identified a population of cells and a select time during fetal development that may be key to the disorder.
A single gene mutation leads to Rett syndrome, but other variants may modify the severity of an individual’s symptoms, according to a study published 28 February in PLoS One.
Jason Stein and Daniel Geschwind analyze how different types of genetic variation contribute to autism risk.
Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.
Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.
Researchers have created a network of various forms of many proteins linked to autism, revealing new molecular interactions that may play a role in the disorder. The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.