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

Clinical correlations of contiguous gene syndromes  

The purpose of this clinical protocol is to characterize Potocki-Lupski syndrome (PTLS), which is known to cause mental retardation, autism spectrum disorder (ASD), congenital cardiovascular disease, and sleep apnea. Such characterization is imperative for proper medical and psychiatric management and equally essential for the psychosocial well-being of patients and their families. These studies will be accomplished in a systematic manner, utilizing a multidisciplinary approach by expert clinicians at Texas Children's Hospital with a unified goal to delineate the medical and behavioral features of PTLS. Cytogenetic and molecular studies will be performed concurrently with these clinical analyses and thus complement this clinical research. Project Status


Funder National Institutes of Health
Fiscal Year Funding $21,923.00
Project Number 5M01RR000188-45
Principal Investigator Potocki, Lorraine
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? Federal
Institution Baylor College of Medicine
State/Country Texas
Web Link 1 Clinical correlations of contiguous gene syndromes (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A