|Project Title||Principal Investigator||Institution|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Simons Simplex Collection Site||Pelphrey, Kevin||Yale University|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|Genetic investigation of cognitive development in autistic spectrum disorders||Morrow, Eric||Brown University|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|Simons Simplex Collection Site||Lese Martin, Christa||Emory University|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Uncovering genetic mechanisms of ASD||Kunkel, Louis||Children's Hospital Boston|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|Simons Simplex Collection Site||Kochel, Robin||Baylor College of Medicine|
|The role of retrotransposons in autism spectrum disorders||Kazazian, Haig||Johns Hopkins University|
|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|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|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|
|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|
|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%.