|Project Title||Principal Investigator||Institution|
|Simons Simplex Collection Site||Lord, Catherine||University of Michigan|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|Simons Simplex Collection Site||Miles, Judith||University of Missouri|
|Linking autism and congenital cerebellar malformations||Millen, Kathleen||University of Chicago|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Identifying and understanding the action of autism susceptibility genes||Monaco, Anthony||University of Oxford|
|Genetic investigation of cognitive development in autistic spectrum disorders||Morrow, Eric||Brown University|
|Illumina, Inc.||No PI listed||Illumina, Inc.|
|Simons Simplex Collection Site||Pelphrey, Kevin||Yale University|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Identification and functional characterization of gene variants||Persico, Antonio||Universita Campus Bio-Medico di Roma|
|Simons Simplex Collection Site||Peterson, Bradley||Columbia University|
|Hypocholesterolemic autism spectrum disorder||Porter, Forbes||National Institutes of Health|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|The transcription factor PLZF: A possible genetic link between immune dysfunction and autism||Sant'Angelo, Derek||Memorial Sloan-Kettering Cancer Center|
|Investigation of genes involved in synaptic plasticity in Iranian families with ASD||Santangelo, Susan||Massachusetts General Hospital|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|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|
|Autism Genome Project (AGP)||Staff Member||Autism Speaks (AS)|
|A genome-wide search for autism genes in the Simons Simplex Collection||State, Matthew||Yale University|
|ACE Center: Rare variant genetics, contactin-related proteins and autism||State, Matthew||Yale University|
|Simons Simplex Collection Site||Sutcliffe, James||Vanderbilt University|
|Unraveling the genetic etiology of autism||Sutcliffe, James||Vanderbilt University|
|Potential role of non-coding RNAs in autism||Talebizadeh, Zohreh||Children's Mercy Hospitals And Clinics|
|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%.