|Project Title||Principal Investigator||Institution|
|Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia||Goldstein, David||Duke University|
|Whole-exome sequencing to identify causative genes for autism||Gleeson, Joseph||University of California, San Diego|
|Unraveling the genetic etiology of autism||Sutcliffe, James||Vanderbilt University|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|The transcription factor PLZF: A possible genetic link between immune dysfunction and autism||Sant'Angelo, Derek||Memorial Sloan-Kettering Cancer Center|
|The role of the neurexin 1 gene in susceptibility to autism||Gusella, James||Massachusetts General Hospital/Harvard Medical School|
|The role of retrotransposons in autism spectrum disorders||Kazazian, Haig||Johns Hopkins University|
|The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|Simons Simplex Collection Site||Bernier, Raphael||University of Washington|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Simons Simplex Collection Site||Walsh, Christopher||Children's Hospital Boston|
|Simons Simplex Collection Site||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|Simons Simplex Collection Site||Geschwind, Daniel||University of California, Los Angeles|
|Simons Simplex Collection Site||Kochel, Robin||Baylor College of Medicine|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|Simons Simplex Collection Site||Pelphrey, Kevin||Yale University|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Simons Simplex Collection||Treadwell-Deering, Diane||Baylor College of Medicine|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|IACC Strategic Plan Objective||2008||2009||2010||2011||2012||Total|
|Identify genetic risk factors in at least 50% of people with ASD by 2014.
IACC Recommended Budget: $33,900,000 over 6 years
|3.L.B. Funding: The recommended budget was met. Significantly more than the recommended minimum budget was allocated to projects specific to this objective.
Progress: Further work is needed to identify genetic risk factors in at least 50% of people. Currently, whole exome analysis predicts that a genetic risk factor can be identified for 20% of people; inclusion of CNV data might push this toward 30%.
Remaining Gaps, Needs, and Opportunities: The initial budget recommendation for this objective was made based on the assumption that GWAS studies would provide risk factor identification, but sequencing has proven more fruitful. Since this technique is more expensive, a higher budget will be required to meet the goal of 50%.