|Project Title||Principal Investigator||Institution|
|RNA expression patterns in autism||Kunkel, Louis||Children's Hospital Boston|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|Recessive genes for autism and mental retardation||Walsh, Christopher||Beth Israel Deaconess Medical Center|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|Population genetics to improve homozygosity mapping and mapping in admixed groups||Williams, Amy||Harvard Medical School|
|Pathway-based genetic studies of autism spectrum disorder||Bucan, Maja||University of Pennsylvania|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|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|
|Integrative genetic analysis of autistic brains||Arking, Dan||Johns Hopkins University School of Medicine|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Genomic imbalances in autism||Kumar, Ravinesh||University of Chicago|
|Genomic hotspots of autism||Eichler, Evan||University of Washington|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Genetic investigation of cognitive development in autistic spectrum disorders||Morrow, Eric||Brown University|
|Genetic epidemiology of complex traits||Bailey-Wilson, Joan||National Institutes of Health|
|Genetic basis of autism||Wigler, Michael||Cold Spring Harbor Laboratory|
|Genes disrupted by balanced genomic rearrangements in autism spectrum disorders||Gusella, James||Massachusetts General Hospital|
|Gene expression profiling of autism spectrum disorders||Collins, Christin||Children's Hospital Boston|
|Finding recessive genes for autism spectrum disorders||Walsh, Christopher||Children's Hospital Boston|
|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%.