|Project Title||Principal Investigator||Institution|
|Aberrant synaptic function caused by TSC mutation in autism||Sulzer, David||Columbia University|
|A longitudinal MRI study of brain development in fragile X syndrome||Hazlett, Heather Cody||University of North Carolina at Chapel Hill|
|An adult brain-specific mouse model of neuronal TSC inactivation||Kelleher, Raymond||Massachusetts General Hospital|
|An investigation of neuropsychological endophenotypes in autism and fragile X||Martin, Gary Everett||University of North Carolina at Chapel Hill|
|Augmentation of the cholinergic system in fragile X syndrome: A double-blind placebo-controlled randomized study of donepezil||Reiss, Allan||Stanford University|
|Autism iPSCs for studying function and dysfunction in human neural development||Loring, Jeanne||Scripps Research Institute|
|BDNF and the restoration of spine plasticity with autism spectrum disorders||Gall, Christine||University of California, Irvine|
|Cell-based genomic analysis in mouse models of Rett syndrome||Huang, Z. Josh||Cold Spring Harbor Laboratory|
|Cell type-based genomics of developmental plasticity in cortical GABA interneurons||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|
|Chromatin alterations in Rett syndrome||Akbarian, Schahram||University of Massachusetts Medical School|
|Clinical correlations of contiguous gene syndromes||Potocki, Lorraine||Baylor College of Medicine|
|Connectopathic analysis of autism||Sanes, Joshua||Harvard University|
|Coordinated control of synapse development by autism-linked genes||Huber, Kimberly||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|
|Cortical circuit changes and mechanisms in a mouse model of fragile X syndrome (supplement)||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|
|Elucidating the roles of SHANK3 and FXR in the autism interactome||Zoghbi, Huda||Baylor College of Medicine|
|Elucidation of the developmental role of JAKMIP1, an autism-susceptibility gene||Bomar, Jamee||University of California, Los Angeles|
|Face processing and brain function associated with autistic symptoms in fragile X||Dalton, Kim||University of Wisconsin - Madison|
|Fundamental mechanisms of GPR56 activation and regulation||Hall, Randy||Emory University|
|Gene silencing in fragile X syndrome||Usdin, Karen||National Institutes of Health (NIH)|
|Genetic and developmental analyses of fragile X syndrome||Broadie, Kendal||Vanderbilt University|
|Genetics and physiology of social anxiety in fragile X||Hessl, David||University of California, Davis|
|High content screens of neuronal development for autism research||Halpain, Shelley||University of California, San Diego|
|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.