Strategic Plan Objective Detail
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Question 3: Objective 2  

$4,065,391.77
Fiscal Year: 2008

Yellow dot: Objective has some degree of funding, but less than the recommended amount.3.2 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. IACC Recommended Budget: $43,700,000 over 4 years.

Download 2008 Question 3: Objective 2 projects (EXCEL)
Note: Initial Sort is by Principal Investigator. Sorting by other columns is available by clicking on the desired column header.
Project Title Principal Investigator Institution
Comprehensive genetic variation detection to definitively assess the role of the X chromosome in autism Warren, Stephen Emory University
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
Molecular and genetic epidemiology of autism Pericak-Vance, Margaret University of Miami Miller School of Medicine
Family recruitment network - 3 Neumeyer, Ann Massachusetts General Hospital
Genome-wide association study of autism characterized by developmental regression Molloy, Cynthia Cincinnati Children's Hospital Medical Center
Genome-wide association study of autism Molloy, Cynthia Cincinnati Children's Hospital Medical Center
Immune system function role in autism Molloy, Cynthia Cincinnati Children's Hospital Medical Center
Relevance of NPAS1/3 balance to autism and schizophrenia McKnight, Steven University of Texas Southwestern Medical Center
RNA expression patterns in autism Kunkel, Louis Boston Children's Hospital
Genomic analyses of autism spectrum disorders Hu, Valerie George Washington University
Family recruitment network - 4 Holm, Ingrid Boston Children's Hospital
Family recruitment network - 2 Demmer, Laurie Tufts Medical Center
Family recruitment network - 1 Caronna, Elizabeth Boston Medical Center

Objective Cumulative Funding Table

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
3.2
$4,065,392
14 projects

3.S.A
$13,926,663
11 projects

3.S.A
$16,688,932
14 projects

3.S.A
$2,207,214
7 projects

3.S.A
$1,699,432
6 projects

$38,587,633
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.