|Project Title||Principal Investigator||Institution|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|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|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|The role of the neurexin 1 gene in susceptibility to autism||Gusella, James||Massachusetts General Hospital/Harvard Medical School|
|The transcription factor PLZF: A possible genetic link between immune dysfunction and autism||Sant'Angelo, Derek||Memorial Sloan-Kettering Cancer Center|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Genetic epidemiology of complex traits||Bailey-Wilson, Joan||National Institutes of Health|
|The frequency of polymorphisms in maternal- and paternal-effect genes in autism spectrum||Levine, Arnold||Princeton University|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Simons Simplex Collection Site||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|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|
|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|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Investigation of DUF1220 domains in human brain function and disease||Sikela, James||University of Colorado Denver|
|Investigation of DUF1220 domains in human brain function and disease (supplement)||Sikela, James||University of Colorado Denver|
|Simons Simplex Collection Site||Cook, Edwin||University of Illinois at Chicago|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|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%.