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

Functional circuit disorders of sensory cortex in ASD and RTT  

Rett syndrome (RTT) is a complex developmental disorder primarily arising from mutations in the MECP2 gene and occurring almost entirely in girls. While RTT is relatively rare (~1:15:000), polymorphisisms of MECP2 and changes in expression levels have been associated with autism and schizophrenia. Currently there are no established models for studying cortical processing abnormalities in RTT or autism spectrum disorders (ASD); however, researchers in this lab found a striking similarity between auditory responses reported in autistic individuals and a mouse model of RTT. Using both in vivo and in vitro approaches, this proposal takes advantage of these similarities to identify and understand underlying cortical mechanisms disrupted in RTT and autism. The goals of this proposal are to determine how disruption in Mecp2 affects local circuit function and auditory processing in RTT and to understand cortical abnormalities that may cause the ASD-related sensory processing differences generated by the RTT mouse model. Project Status


Funder National Institutes of Health
Fiscal Year Funding $261,599.00
Current Award Period 2010-2013
Project Number 1R01HD062577-01A1
Principal Investigator Carlson, Gregory
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 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? Federal
Institution University of Pennsylvania
State/Country Pennsylvania
Web Link 1 Functional circuit disorders of sensory cortex in ASD and RTT (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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