|Project Title||Principal Investigator||Institution|
|Integrative genetic analysis of autistic brains||Arking, Dan||Johns Hopkins University School of Medicine|
|Genetic epidemiology of complex traits||Bailey-Wilson, Joan||National Institutes of Health|
|Simons Simplex Collection Site||Bernier, Raphael||University of Washington|
|Pathway-based genetic studies of autism spectrum disorder||Bucan, Maja||University of Pennsylvania|
|The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Genomic hotspots of autism||Eichler, Evan||University of Washington|
|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|
|ACE Network: A comprehensive approach to identification of autism susceptibility genes||Geschwind, Daniel||University of California, Los Angeles|
|Whole-exome sequencing to identify causative genes for autism||Gleeson, Joseph||University of California, San Diego|
|Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia||Goldstein, David||Duke University|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Genes disrupted by balanced genomic rearrangements in autism spectrum disorders||Gusella, James||Massachusetts General Hospital|
|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|
|Simons Simplex Collection Site||Kochel, Robin||Baylor College of Medicine|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|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%.