|Project Title||Principal Investigator||Institution|
|Relevance of NPAS1/3 balance to autism and schizophrenia||McKnight, Steven||University of Texas Southwestern Medical Center|
|Molecular and genetic epidemiology of autism||Pericak-Vance, Margaret||University of Miami Miller School of Medicine|
|Family recruitment network - 2||Demmer, Laurie||Tufts Medical Center|
|Family recruitment network - 5||Santangelo, Susan||Massachusetts General Hospital|
|Role of TSC/mTOR signaling pathway in autism and autism spectrum disorders||Ramesh, Vijaya||Massachusetts General Hospital|
|Family recruitment network - 3||Neumeyer, Ann||Massachusetts General Hospital|
|Genomic analyses of autism spectrum disorders||Hu, Valerie||George Washington University|
|Comprehensive genetic variation detection to definitively assess the role of the X chromosome in autism||Warren, Stephen||Emory University|
|Immune system function role in autism||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Genome-wide association study of autism||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Genome-wide association study of autism characterized by developmental regression||Molloy, Cynthia||Cincinnati Children's Hospital Medical Center|
|Family recruitment network - 1||Caronna, Elizabeth||Boston Medical Center|
|RNA expression patterns in autism||Kunkel, Louis||Boston Children's Hospital|
|Family recruitment network - 4||Holm, Ingrid||Boston Children's Hospital|
|IACC Strategic Plan Objectives||2008||2009||2010||2011||2012||Total|
|Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 for sequencing studies to examine more than 50 candidate genes by 2011. Studies should investigate factors contributing to phenotypic variation across individuals who share an identified genetic variant and stratify subjects according to behavioral, cognitive, and clinical features.
IACC Recommended Budget: $43,700,000 over 4 years
|3.S.A. Funding: The recommended budget was partially met, and is approaching the recommended budget.
Progress: Progress has been made on this objective through the funding of several GWAS and sequencing projects. The current number of 6,000 GWAS subjects falls short of the goal of 20,000, but the number of whole exome sequences far exceeds 1,200, and could also reach 6,000 in the next year. Whole exome sequencing has identified 7-10 candidate genes, and promises to move closer to the goal of 50 in the future. Progress is being made in CNV studies. Overall, the work is on target.
Remaining Gaps, Needs, and Opportunities: More subtyping and genotype-phenotype work outside of syndromic forms of autism, as well as natural history studies, are needed.