CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

CAG has been recognized as leading medical breaking breakthroughs in autism for several years, and our ultimate goal is to turn landmark research into successful treatments.

Our group was the first to demonstrate that structural changes in the genome called copy number variations (CNVs) are associated with autism, specifically in a network of genes called the metabotropic glutamatergic (mGluR) network. We also showed that patients with syndromic forms of autism were significantly more likely to have mGluR CNVs - 11.5% versus 3.2% for non-syndromic autism, a more than 3-fold difference. We are currently pursuing trials to understand the role of the mGluR and other CNVs in neurodevelopment, and how mGluR agonists may be used to treat the disorder.

Our group was previously the first to identify a genome-wide significant association for autism, highlighting six genetic markers between two specific genes that confirmed susceptibility to autism. The two genes, cadherin 10 and cadherin 9 are sticky molecules that help neurons bind together. They play an important role in neurodevelopment, and may be important in helping us understand the neuropathology of autism.