|Project Title||Principal Investigator||Institution|
|ACE Center: Rare variant genetics, contactin-related proteins and autism||State, Matthew||Yale University|
|ACE Center: Targeting genetic pathways for brain overgrowth in autism spectrum disorders||Wynshaw-Boris, Anthony||University of California, San Diego|
|ACE Network: A comprehensive approach to identification of autism susceptibility genes||Geschwind, Daniel||University of California, Los Angeles|
|A genome-wide search for autism genes in the Simons Simplex Collection||State, Matthew||Yale University|
|Analysis of candidate genes derived from a protein interaction network in SSC samples||Zoghbi, Huda||Baylor College of Medicine|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Comprehensive genetic variation detection to assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|Finding recessive genes for autism spectrum disorders||Walsh, Christopher||Children's Hospital Boston|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|Genes disrupted by balanced genomic rearrangements in autism spectrum disorders||Gusella, James||Massachusetts General Hospital|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Genetic epidemiology of complex traits||Bailey-Wilson, Joan||National Institutes of Health|
|Genetic investigation of cognitive development in autistic spectrum disorders||Morrow, Eric||Brown University|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Genomic hotspots of autism||Eichler, Evan||University of Washington|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|Integrative genetic analysis of autistic brains||Arking, Dan||Johns Hopkins University School of Medicine|
|Investigation of DUF1220 domains in human brain function and disease||Sikela, James||University of Colorado Denver|
|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%.