|Project Title||Principal Investigator||Institution|
|ACE Center: Rare variant genetics, contactin-related proteins and autism||State, Matthew||Yale University|
|Simons Simplex Collection Site||Pelphrey, Kevin||Yale University|
|A genome-wide search for autism genes in the Simons Simplex Collection||State, Matthew||Yale University|
|Unraveling the genetic etiology of autism||Sutcliffe, James||Vanderbilt University|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Simons Simplex Collection Site||Bernier, Raphael||University of Washington|
|Genomic hotspots of autism||Eichler, Evan||University of Washington|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|Pathway-based genetic studies of autism spectrum disorder||Bucan, Maja||University of Pennsylvania|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Investigation of DUF1220 domains in human brain function and disease (supplement)||Sikela, James||University of Colorado Denver|
|Investigation of DUF1220 domains in human brain function and disease||Sikela, James||University of Colorado Denver|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|ACE Center: Targeting genetic pathways for brain overgrowth in autism spectrum disorders||Wynshaw-Boris, Anthony||University of California, San Diego|
|Whole-exome sequencing to identify causative genes for autism||Gleeson, Joseph||University of California, San Diego|
|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|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|Simons Simplex Collection Site||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|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%.