New autism research published

A study published in Nature Genetics, has linked mutations in the noncoding regions of the human genome to autism. Researchers from the Flatiron Institute’s Centre and the Howard Hughes Medical Institute for Computational Biology in New York used machine learning to analyze the whole genomes of 1,790 individuals with autism and their unaffected parents and siblings, to predict how a given sequence would affect gene expression, and predicted the ramifications of genetic mutations in parts of the genome that do not encode proteins. In this analysis, noncoding mutations in many of the autistic children altered gene regulation and suggested that the mutations affected gene expression in the brain and genes already linked to autism, like those responsible for neuron migration and development. The model’s predictions were backed up by laboratory test experiments where predicted high-impact mutations found in children with autism were inserted into cells and the resulting changes in gene expression observed.
Christopher Park, a research scientist at CCB, said: “This is consistent with how autism most likely manifests in the brain. It’s not just the number of mutations occurring, but what kind of mutations are occurring.”
Chandra Theesfeld, a research scientist on the team, said: “This is a shift in thinking about genetic studies that we’re introducing with this analysis. In addition to scientists studying shared genetic mutations across large groups of individuals, here we’re applying a set of smart, sophisticated tools that tell us what any specific mutation is going to do, even those that are rare or never observed before.”