|Project Title||Principal Investigator||Institution|
|Genomic resources for identifying genes regulating social behavior||Young, Larry||Emory University|
|Identifying autism susceptibility genes by high-throughput chip resequencing||Zwick, Michael||Emory University|
|Simons Simplex Collection Site - 8||Ledbetter, David||Emory University|
|Dense mapping of candidate regions linked to autistic disorder||Gregersen, Peter||Feinstein Institute For Medical Research|
|Exploring the role of CC2D1A in neuronal development and synaptic function||Walsh, Christopher||Harvard University|
|Understanding glutamate signaling defects in autism spectrum disorders||Wang, Tao||Johns Hopkins University|
|The role of Contactin-associated Protein-like 2 (CNTNAP2) and other novel genes in autism||Chakravarti, Aravinda||Johns Hopkins University School of Medicine|
|Comprehensive follow-up of novel autism genetic discoveries||Daly, Mark||Massachusetts General Hospital|
|Gene finding - 1||Gusella, James||Massachusetts General Hospital|
|A recurrent genetic cause of autism||Gusella, James||Massachusetts General Hospital|
|Translational genetic studies in familial ASDs||Morrow, Eric||Massachusetts General Hospital|
|Genes that deregulate mTOR signaling as candidates for autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health|
|Chromatin remodeling and neuronal differentiation||Pazin, Michael||National Institutes of Health|
|Autism and SNPs in the IGF pathway||Levine, Arnold||Princeton University|
|Identification and functional assessment of autism susceptibility genes - 1||Brzustowicz, Linda||Rutgers, The State University of New Jersey - New Brunswick|
|Genetic studies of autism susceptibility||Brzustowicz, Linda||Rutgers University|
|A California population-based twin study of autism||Hallmayer, Joachim||Stanford University|
|Clinical trial: Genomic copy number variation in autism||Pomeroy, John||Stony Brook University, The State University of New York|
|The impact of autism specific genomic variations on microRNA gene expression profile||Scherer, Stephen||The Hospital for Sick Children|
|Identification and functional assessment of autism susceptibility genes - 3||Vieland, Veronica||The Research Institute at Nationwide Children's Hospital|
|Simons Simplex Collection Site - 5||Fombonne, Eric||The Research Institute of the McGill University Health Centre|
|Etiology of autism risk involving MET gene and the environment||Van de Water, Judy||University of California, Davis|
|Genotype-phenotype relationships in fragile X families||Hagerman, Randi||University of California, Davis|
|The role of MECP2 in Rett syndrome||LaSalle, Janine||University of California, Davis|
|IACC Strategic Plan Objectives||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%.