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Mechanisms and Models
Identifying the Pathways Responsible for the Development of Autism
Advances in neurobiology over the last decade have made it possible for neuroscientists to use molecular approaches and animal models to determine how genes involved in autism spectrum disorders control brain development and function. The scientists in the Mechanisms and Models group are using chemistry, cell-based strategies, and animal models to identify factors that lead to the development of autism. The ultimate goal of this research is to find and test new therapeutics and treatments.
We have assembled a multi-institutional group of researchers that are working collaboratively and sharing ideas, data, and knowledge to identify the mechanisms and pathways of autism spectrum disorders.
Several researchers are working to understand the contribution to autism of the genes in the 16p11.2 region. The researchers are working on cell-based in vitro strategies and using mice and zebrafish to understand the role the genes in this region of the genome might have in the mechanisms of autism spectrum disorders. Researchers are also working to characterize the human disorder by phenotyping and neuroimaging individuals with the deletion or duplication.
There are also researchers dedicated to developing new therapeutics for ASDs. Based on research in cell culture and mouse models, three new treatments for autism spectrum disorders involving the Autism Consortium investigators are in clinical trials:
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Based on the MeCP2 mouse model for Rett Syndrome, researchers have identified a candidate therapeutic that has been shown to reverse the phenotype in mice even at late stages of the disease. A clinical trial for Rett Syndrome is now underway to test that candidate in children at Children's Hospital Boston.
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Based on work in the mouse model for Tuberous Sclerosis Complex (TSC), clinical trials are underway to test therapeutics in children with TSC.
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Work reported in Neuron on the mouse model of Fragile X has resulted in potential treatments for the syndrome in humans. Based on this work several companies are now supporting clinical trials of various compounds for Fragile X.