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

Visual system connectivity in a high-risk model of autism  

Tuberous Sclerosis Complex (TSC) stems from mutations in one of two genes (TSC1 or TSC2), and in mouse models of TSC, Dr. Sahin's lab has found aberrant axon growth, targeting, and myelination in the brain, which would result in mis-wiring between neurons. This fits with the growing evidence for disrupted neuronal connectivity in autism. In this research project, Dr. Sahin's post-doctoral fellow will investigate how TSC1/2 gene products regulate axon guidance, myelination, and circuit formation in the brain. Specifically, the molecular mechanisms of axon guidance, which involves interactions between TSC proteins and Eph receptors, will be analyzed. The study will also characterize the effect TSC1/2 expression has on the myelin-making cells ("oligodendrocytes"). Finally, the study will investigate the full complement of axonal proteins whose expression is controlled by TSC1/2. Project Status


Funder Autism Speaks
Fiscal Year Funding $41,000.00
Project Number 2151
Principal Investigator Sahin, Mustafa
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective 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.
Federal or Private? Private
Institution Children's Hospital Boston
State/Country Massachusetts
Web Link 1 Visual system connectivity in a high-risk model of autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Visual system connectivity in a high-risk model of autism | $0.00 | 2010 | 2151
Visual system connectivity in a high-risk model of autism | $41,000.00 | 2008 | 2151