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

Angelman syndrome (AS)  

This grant will support the Rare Diseases Clinical Research Center (RDCRC), which focuses on three autism-related clinical disorders: Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS). The near-term potential for meaningful therapy for all 3 of these disorders is strong. The specific aims for AS are: 1) to conduct longitudinal assessments on individuals with Angelman syndrome according to genotype, 2) establish genotype-phenotype correlations based on molecular defect type, and 3) to examine the efficacy of existing therapies including developmental interventions with respect to the genotype-phenotype. The specific aims for Rett syndrome will be: 1) to establish phenotype/genotype correlations over a broad spectrum of Rett phenotypes, 2) to perform longitudinal studies on an extensive population of individuals with Rett, and 3) to extend the survival study on a broad spectrum of Rett individuals. The specific aims for PWS are: 1) to conduct longitudinal studies according to genotype, 2) to perform natural history studies on non-Prader-Willi syndrome individuals with early-onset morbid obesity (EMO) and compare them with Prader-Willi syndrome, and 3) to develop parameters and tool for clinical trials. In addition, a pilot project spanning the three disorders will examine the characteristics and patterns of sleep disorders, well-known accompaniments of each. An extensive training program is also proposed for stimulating the entry of new investigators into clinical research on rare diseases. Project Status


Funder National Institutes of Health
Fiscal Year Funding $208,335.00
Current Award Period 2009-2014
Project Number 5U54HD061222-07
Principal Investigator Percy, Alan
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 Alabama at Birmingham
State/Country Alabama
Web Link 1 Angelman syndrome (AS) (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A