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

$9,171,542.17
Fiscal Year: 2009

New! Yellow dot: Objective has some degree of funding, but less than the recommended amount.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 2009 Question 2: Short-term Objective D projects (EXCEL)
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Project Title Principal Investigator Institution
Genetics and physiology of social anxiety in fragile X Hessl, David University of California, Davis
BDNF and the restoration of spine plasticity with autism spectrum disorders Gall, Christine University of California, Irvine
TrkB agonist(s), a potential therapy for autism spectrum disorders Sun, Yi University of California, Los Angeles
Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene Bomar, Jamee University of California, Los Angeles
The role of the autism-associated gene tuberous sclerosis complex 2 (TSC2) in presynaptic development Williams, Megan University of California, San Diego
High content screens of neuronal development for autism research Halpain, Shelley University of California, San Diego
Molecular basis of autism associated with human adenylosuccinate lyase gene defects Colman, Roberta University of Delaware
Chromatin alterations in Rett syndrome Akbarian, Schahram University of Massachusetts Medical School
Regulation of 22q11 genes in embryonic and adult forebrain Lamantia, Anthony University of North Carolina at Chapel Hill
Sex differences in early brain development: Brain development in Turner syndrome Santelli, Rebecca Knickmeyer University of North Carolina at Chapel Hill
A longitudinal MRI study of brain development in fragile X syndrome Hazlett, Heather Cody University of North Carolina at Chapel Hill
An investigation of neuropsychological endophenotypes in autism and fragile X Martin, Gary Everett University of North Carolina at Chapel Hill
Proteomics in Drosophila to identify autism candidate substrates of UBE3A Reiter, Lawrence University of Tennessee Health Science Center
Proteomics in Drosophila to identify autism candidate substrates of UBE3A (supplement) Reiter, Lawrence University of Tennessee Health Science Center
Identification of UBE3A substrates using proteomic profiling in Drosophila Reiter, Lawrence University of Tennessee Health Science Center
Mouse models of the neuropathology of tuberous sclerosis complex Gambello, Michael University of Texas Health Science Center at Houston
Coordinated control of synapse development by autism-linked genes Huber, Kimberly University of Texas Southwestern Medical Center
Mouse models of human autism spectrum disorders: Gene targeting in specific brain regions Parada, Luis University of Texas Southwestern Medical Center
Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome (supplement) Gibson, Jay University of Texas Southwestern Medical Center
Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome Gibson, Jay University of Texas Southwestern Medical Center
Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model Huber, Kimberly University of Texas Southwestern Medical Center
Face processing and brain function associated with autistic symptoms in fragile X Dalton, Kim University of Wisconsin - Madison
Genetic and developmental analyses of fragile X syndrome Broadie, Kendal Vanderbilt University

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.