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

Genetic dissection of restricted repetitive behavior (RRB)  

Restricted repetitive behavior (RRB) often causes significant disruption to the daily lives of the affected individuals and their families. Despite its significant functional impact, little is known about underlying genetic mechanisms of RRB in general. Prader-Willi syndrome (PWS) is a rare genetic disorder caused by absence of paternally inherited genes in the 15q11-q13 chromosomal region. Interestingly, the 15q11-q13 region has been also implicated in subset of the autism spectrum disorder (ASD) population. Furthermore, children with ASD and children with PWS show similar levels of RRB, suggesting at least a part of RRB phenotypes of both PWS and ASD may be associated with a common neuropsychological, neurotransmitter, or genetic origin. This study will use Prader-Willi syndrome and autism spectrum disorder as models to study genetic mechanisms of restricted repetitive behavior (RRB), focusing on 15q11-q13 region. Identification of common genetic elements in these clinical groups will provide insights into disease pathogenesis and help identify novel targets for treatment of RRB. Project Status


Funder National Institutes of Health
Fiscal Year Funding $8,291.00
Project Number 5M01RR000082-47
Principal Investigator Kim, Soo-Jeong
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Risk Factors)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Federal
Institution University of Florida
State/Country Florida
Web Link 1 Genetic dissection of restricted repetitive behavior (RRB) (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genetic dissection of restricted repetitive behavior (RRB) | $7,588.00 | 2008 | M01RR000082-46