Strategic Plan Objective Detail
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Question 2: Short-term Objective D  

$13,162,905.00
Fiscal Year: 2010

Green dot: Objective has greater than or equal to the recommended funding.2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Download 2010 Question 2: Short-term Objective D 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
The mechanism and significance of Evf ncRNA regulation of the DLX genes Kohtz, Jhumku University of Washington
Translation regulation in hippocampal LTP and LTD Klann, Eric New York University
MicroRNAs in synaptic plasticity and behaviors relevant to autism Kelleher, Raymond Massachusetts General Hospital
Quantitative proteomic approach towards understanding and treating autism Jin, Peng Emory University
Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model Huber, Kimberly University of Texas Southwestern Medical Center
Coordinated control of synapse development by autism-linked genes Huber, Kimberly University of Texas Southwestern Medical Center
Study of fragile X mental retardation protein in synaptic function and plasticity Huber, Kimberly University of Texas Southwestern Medical Center
Cell-based genomic analysis in mouse models of Rett syndrome Huang, Z. Josh Cold Spring Harbor Laboratory
Cellular and molecular alterations in GABAergic inhibitor circuits by mutations in MeCP2 Huang, Z. Josh Cold Spring Harbor Laboratory
Development of novel diagnostics for fragile X syndrome Hosono, Seiyu JS Genetics, Inc.
The role of intracellular metabotropic glutamate receptor 5 at the synapse Hogan, Carolyn Washington University in St. Louis
A longitudinal MRI study of brain development in fragile X syndrome Hazlett, Heather University of North Carolina at Chapel Hill
Fundamental mechanisms of GPR56 activation and regulation Hall, Randy Emory University
Genotype-phenotype relationships in fragile X families Hagerman, Randi University of California, Davis
Neuronal activity-dependent regulation of MeCP2 Greenberg, Michael Harvard Medical School
Neuronal activity-dependent regulation of MeCP2 (supplement) Greenberg, Michael Harvard Medical School
Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome Gibson, Jay University of Texas Southwestern Medical Center
The microRNA pathway in translational regulation of neuronal development Gao, Fen-Biao J. David Gladstone Institutes
The microRNA pathway in translational regulation of neuronal development Gao, Fen-Biao University of Massachusetts Medical School
BDNF and the restoration of spine plasticity with autism spectrum disorders Gall, Christine University of California, Irvine
Probing disrupted cortico-thalamic interactions in autism spectrum disorders Fagiolini, Michela; Chen, Chinfei Children's Hospital Boston
Establishing zebrafish as a model for RAI1 gene dosage Elsea, Sarah; Lister, James Virginia Commonwealth University
Activity-dependent phosphorylation of MeCP2 Ebert, Daniel Harvard Medical School
Allelic choice in Rett syndrome Donohoe, Mary Winifred Masterson Burke Medical Research Institute
The functional link between DISC1 and neuroligins: Two genetic factors in the etiology of autism DiDonato, Christine Children's Memorial Hospital, Chicago

Objective Cumulative Funding Table

IACC Strategic Plan Objective 2008 2009 2010 2011 2012 Total
Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g., Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012.

IACC Recommended Budget: $9,000,000 over 5 years
N/A

2.S.D
$9,171,542
48 projects

2.S.D
$13,162,905
57 projects

2.S.D
$12,360,956
64 projects

2.S.D
$18,452,242
83 projects

$53,147,645
2.S.D. Funding: The recommended budget was met. Significantly more than the recommended minimum budget was allocated to projects specific to this objective.

Progress: A large number of projects were funded that address this objective. Investment in this area has doubled since 2009, and in 2013, NIH began funding an ACE center focused on tuberous sclerosis. Much is being learned about conditions related to autism that can be applied to autism. This objective is on track.

Remaining Gaps, Needs and Opportunities: The next step will be to translate findings in this area into clinically useful therapies.