|Project Title||Principal Investigator||Institution|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Face processing and brain function associated with autistic symptoms in fragile X||Dalton, Kim||University of Wisconsin - Madison|
|Developmental versus acute mechanisms mediating altered excitatory synaptic function in the fragile X syndrome mouse model||Huber, Kimberly||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|
|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|
|Mouse models of the neuropathology of tuberous sclerosis complex||Gambello, Michael||University of Texas Health Science Center at Houston|
|Identification of UBE3A substrates using proteomic profiling in Drosophila||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|
|Proteomics in Drosophila to identify autism candidate substrates of UBE3A||Reiter, Lawrence||University of Tennessee Health Science Center|
|Sex differences in early brain development: Brain development in Turner syndrome||Santelli, Rebecca Knickmeyer||University of North Carolina at Chapel Hill|
|Regulation of 22q11 genes in embryonic and adult forebrain||Lamantia, Anthony||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|
|Chromatin alterations in Rett syndrome||Akbarian, Schahram||University of Massachusetts Medical School|
|Molecular basis of autism associated with human adenylosuccinate lyase gene defects||Colman, Roberta||University of Delaware|
|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|
|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|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|Genetics and physiology of social anxiety in fragile X||Hessl, David||University of California, Davis|
|White matter connections of the face processing network in children and adults||Yoon, Jennifer||Stanford University|
|Synaptic analysis of neuroligin 1 function||Fuccillo, Marc||Stanford University|
|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
|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.