In May Dr. Joseph Buxbaum, Director of the Seaver Autism Center, was a member of the Shank3 gene research panel at the annual International Meeting for Autism Research (IMFAR). Dr. Buxbaum and his team were the first group to publish a genetic mouse model of Shank3. This model lacks one copy of the Shank3 gene, as is the case in humans with a Shank3 mutation. Characterization of this mouse model provides clear support that Shank3 plays an important role in synapse architecture, function, and plasticity. In Dr. Buxbaum’s presentation, he also explained that his lab was able to reverse the Shank3 mutation phenotype in brain slices by administering IGF-1. The ability to reverse this phenotype is one exciting step closer to the identification of novel therapeutic targets for 22q13 deletion syndrome/Phelan-McDermid Syndrome.
To read more about this Scientific Panel, please see the blog post by Autism Speaks: http://blog.autismspeaks.org/2011/05/24/shan/.
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