Project Summary

James Gusella, Ph.D. (Distinguished Investigator 2007) of Massachusetts General Hospital/Harvard University, has identified a strong candidate gene for autism (neurexin 1 gene or NRXNI) and will now test the hypothesis that rare variants in NRXNI (and possibly two closely related genes—NRXN2 and NRXN3) contribute to susceptibility to autism. He will also determine if any common variation in NRXNI is responsible for susceptibility to autism. Using data from the existing “Autism Consortium” comprised of groups from Harvard, MIT, Boston University, and Tufts, this work will firmly establish the role of this neurexin gene in autism and will provide the necessary preliminary data to seek additional federal funding to identify an effective intervention for the disorder/s.

Program Area: PERVASIVE DEVELOPMENTAL DISORDERS\Autism

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