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
Angelman syndrome (AS) Percy, Alan University of Alabama at Birmingham
MeCP2 modulation of BDNF signaling: Shared mechanisms of Rett and autism Pozzo-Miller, Lucas University of Alabama at Birmingham
Regulation of 22q11 genes in embryonic and adult forebrain Lamantia, Anthony The George Washington University
Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome Lin, Michael Stanford University
Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo study Reiss, Allan Stanford University
L-type calcium channel regulation of neuronal differentiation Panagiotakos, Georgia Stanford University
Probing a monogenic form of autism from molecules to behavior Tsien, Richard Stanford University
Translation regulation in hippocampal LTP and LTD Klann, Eric New York University
Gene silencing in fragile X syndrome Usdin, Karen National Institutes of Health
Investigation of postnatal drug intervention's potential in rescuing the symptoms of fragile X syndrome in adult mice Sidorov, Michael Massachusetts Institute of Technology
MicroRNAs in synaptic plasticity and behaviors relevant to autism Kelleher, Raymond Massachusetts General Hospital
Development of novel diagnostics for fragile X syndrome Hosono, Seiyu JS Genetics, Inc.
Olfactory abnormalities in the modeling of Rett syndrome Ronnett, Gabriele Johns Hopkins University
The microRNA pathway in translational regulation of neuronal development Gao, Fen-Biao J. David Gladstone Institutes
Activity-dependent phosphorylation of MeCP2 Ebert, Daniel Harvard Medical School
Neuronal activity-dependent regulation of MeCP2 (supplement) Greenberg, Michael Harvard Medical School
Neuronal activity-dependent regulation of MeCP2 Greenberg, Michael Harvard Medical School
Elucidation and rescue of amygdala abnormalities in the Fmr1 mutant mouse model of fragile X syndrome Corbin, Joshua George Washington University
Fundamental mechanisms of GPR56 activation and regulation Hall, Randy Emory University
Quantitative proteomic approach towards understanding and treating autism Jin, Peng Emory University
New approaches to local translation: SpaceSTAMP of proteins synthesized in axons Segal, Rosalind Dana-Farber Cancer Institute
Aberrant synaptic function caused by TSC mutation in autism Sulzer, David Columbia University
Aberrant synaptic form and function due to TSC-mTOR-related mutation in autism spectrum disorders Sulzer, David Columbia University
Neural circuit deficits in animal models of Rett syndrome Xiong, Qiaojie Cold Spring Harbor Laboratory
Cell-based genomic analysis in mouse models of Rett syndrome Huang, Z. Josh Cold Spring Harbor Laboratory

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.