nullA new study lead by UC San Francisco researchers has identified the genetic mutations that impact on brain regions. The research has focused on 9 those that are most strongly associated with autism and investigated their effects using precise maps of during human brain development.

Autism () are marked by deficits in and language development, as well as by repetitive behaviors and/or restricted interests, are known to have a strong genetic component, with different degrees on the severity of .

The set of had been linked to abnormalities in brain cells, known as cortical projection neurons in the deepest layers of the developing prefrontal cortex, during the middle period of fetal development.

This is the first time that researchers have been able to pin point specific genetic mutations correlated with autism () at a specific point in human development.

“Given the small subset of autism we studied, I had no expectation that we would see the degree of spatiotemporal convergence that we saw,” said State,the lead researcher, an international authority on the genetics of neurodevelopmental disorders.

“This strongly suggests that, though there are hundreds of autism risk , the number of underlying biological mechanisms will be far fewer,” he said. “This is a very important clue to advance precision medicine for autism toward the development of personalized and targeted therapies.”

“We couldn’t have done this even two years ago,” State said, “because we didn’t have the key ingredients: a set of unbiased autism that we have confidence in, and a map of the landscape of the developing human brain. This work combines large-scale ‘-omics’ data sets to pivot into a deeper understanding of the relationship between complex genetics and biology.”


A. Jeremy Willsey, Stephan J. Sanders, Mingfeng Li, Shan Dong, Andrew T. Tebbenkamp, Rebecca A. Muhle, Steven K. Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A. Miller, Michael T. Murtha, Candace Bichsel, Wei Niu, Justin Cotney, A. Gulhan Ercan-Sencicek, Jake Gockley, Abha R. Gupta, Wenqi Han, Xin He, Ellen J. Hoffman, Lambertus Klei, Jing Lei, Wenzhong Liu, Li Liu, Cong Lu, Xuming Xu, Ying Zhu, Shrikant M. Mane, Ed S. Lein, Liping Wei, James P. Noonan, Kathryn Roeder, Bernie Devlin, Nenad Sestan, Matthew W. State. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism. Cell, 2013; 155 (5): 997 DOI: 10.1016/j.cell.2013.10.020

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