Scans for autism gene groups could open door to genetic biomarkers

April was Autism Awareness Month, and we have seen a lot of interesting research on autism biomarkers on FierceBiomarkers of late. Autism has a genetic component, and researchers at the Hebrew University of Jerusalem have suggested that while there are a number of genes that seem to be involved in autism (it is a polygenic disorder) and different genes seem to be involved in different people with autism, these genes make up specific groups, and these groups could be used as biomarkers for diagnosis of disorders in the autism spectrum.

The researchers looked at networks of gene expression in the brain, including common and rare mutations, and found that the variants made up two "modules" of genes involved in learning, memory and sensory perception, which could explain the different types of symptoms seen in people with the neurodevelopmental syndrome. The studies included data from thousands of families with children that have autism, including those with just one member with the disorder, and those with a number of affected members. Both groups had similar variants of the genes.

The research, published in PLoS Genetics, could help with early diagnosis through large-scale genetic scans, and may even provide specific treatments for people with different genetic forms of autism spectrum disorders.

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