Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Synaptic deficits of iPS cell-derived neurons from patients with autism  

This is an NIH Pathway to Independence Award, which provides an opportunity for promising postdoctoral scientists to transition from mentored to independent research support. The goal of this project is to identify biological phenotypes of neurons derived from induced pluripotent stem (iPS) cells from individuals with autism and defined genetic alterations in the SHANK3 gene. Many lines of evidence suggest genetic etiologies for ASDs, but little is known about the cellular/physiological ramifications of these genetic defects. Thus, to probe the cellular basis underlying autism phenotypes, the researcher will differentiate iPS cells from genetically defined ASD patients with point mutations or deletions in SHANK3 into neurons and characterize them. Genetic alterations in SHANK3 may cause defects in the intrinsic properties and synaptic function of iPS-derived neurons from these patients. The neuronal properties of these cell lines will be investigated to provide a possible mechanistic link between the genetic alterations in the patients and their behavioral phenotypes. Therapeutic strategies will also be tested by using viral-mediated gene transduction to rescue neuronal phenotypes. These experiments will contribute to understanding of mechanisms underlying autism and may lead to advances in identifying new therapeutic targets and treatment strategies. They will also lay the foundation for the development of a cell-based assay system to study iPS cells and neurons from patients with a broad set of autism spectrum disorders. Project Status


Funder National Institutes of Health
Fiscal Year Funding $86,588.00
Current Award Period 2010-2012
Project Number 1K99MH091160-01
Principal Investigator Mao, Rong
Received ARRA Funding? No
Strategic Plan Question Question 4: Which Treatments And Interventions Will Help? (Treatments)
Subcategory Model Systems/Therapeutic Targets
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.
Federal or Private? Federal
Institution Stanford University
State/Country California
Web Link 1 Synaptic deficits of iPS cell-derived neurons from patients with autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A