Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.
A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.
In order to understand the interaction between genes and environment in autism, researchers in different disciplines will have to move back and forth between those two realms, stretching out of their intellectual comfort zones. But if the mood at an interdisciplinary workshop two weeks ago is any indication, that challenge is also a source of excitement.
Researchers have devised a system to assign a unique identifier to each participant in an autism study. This Global Unique Identifier, or GUID, allows investigators to see which other studies participants have enrolled in, while maintaining participants’ privacy.
For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?
The Autism Birth Cohort, based on data from 100,000 Norwegian children and their families, aims to uncover genetic and environmental factors contributing to the disorder.
Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.
The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
A new model that compares how the same genes behave in different organisms could help researchers identify previously unknown candidates for diseases such as autism. The model, published in the Proceedings of the National Academy of Sciences, takes advantage of the genetic overlap between humans and simpler organisms to discover genes associated with complex diseases.