|Project Title||Principal Investigator||Institution|
|The role of the neurexin 1 gene in susceptibility to autism||Gusella, James||Massachusetts General Hospital/Harvard Medical School|
|Genes disrupted by balanced genomic rearrangements in autism spectrum disorders||Gusella, James||Massachusetts General Hospital|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute for Medical Research|
|Identification of aberrantly methylated genes in autism: The role of advanced paternal age||Gingrich, Jay||Research Foundation for Mental Hygiene, Inc.|
|Core--Genomics/Bioinformatics--Alzheimer's disease and autism||Gilliam, Thomas||Columbia University|
|ACE Network: A comprehensive approach to identification of autism susceptibility genes||Geschwind, Daniel||University of California, Los Angeles|
|Simons Simplex Collection Site||Geschwind, Daniel||University of California, Los Angeles|
|Simons Simplex Collection Site||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|Genomic hotspots of autism||Eichler, Evan||University of Washington|
|Computational tools to analyze SNP data from patients with mental illness||Downey, Thomas||Partek, Inc.|
|Simons Simplex Collection Site||Deutsch, Curtis||University of Massachusetts Medical School|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Genetics of autism intermediate phenotypes||Coon, Hilary||University of Utah|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Rutgers, The State University of New Jersey||Contract||Rutgers, The State University of New Jersey|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|Simons Simplex Collection Site||Cicero, Theodore||Washington University in St. Louis|
|Genome-wide analyses of DNA methylation in autism||Chess, Andrew||Massachusetts General Hospital|
|The role of contactin-associated protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|Autism Genome Project||Buxbaum, Joseph||Mount Sinai School of Medicine|
|Pathway-based genetic studies of autism spectrum disorder||Bucan, Maja||University of Pennsylvania|
|Identification and functional assessment of autism susceptibility genes||Brzustowicz, Linda||Rutgers, The State University of New Jersey - New Brunswick|
|Behavioral and genetic biomarker development for autism and related disorders||Brzustowicz, Linda||Rutgers, The State University of New Jersey - New Brunswick|
|Simons Simplex Collection Site||Bernier, Raphael||University of Washington|
|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%.