Research Update- March 2015

Research Update- March 2015

Funding from the Smith-Magenis Syndrome Research Foundation (SMSRF) to create the Smith-Magenis Syndrome Research Initiative at Baylor College of Medicine is a significant endeavor to further basic research to improve knowledge and understanding of Smith-Magenis syndrome. The primary focus of the research supported by the SMSRF is to better understand the function of RAI1, the primary gene responsible for SMS.   The Initiative currently provides funding to support the training and research efforts of a postdoctoral fellow and a genetics graduate student to investigate the cellular and developmental roles of RAI1.  The data generated in this project will provide significant insight into the specific roles for RAI1 in circadian, cognitive, growth, and developmental pathways that are all affected in individuals with SMS.  These data are required in order to move toward appropriately targeted therapeutic interventions to improve quality of life for persons with SMS.  The first year of the Initiative led to improved understanding of the role of RAI1 in the control of body weight, satiety, and the development of obesity.  Investigations focused on the circadian rhythm defect in SMS also revealed significant connections to other neurodevelopmental disorders that have similar but less severe sleep disturbances that may also benefit from these research studies.  Ongoing and future studies will continue to focus efforts on RAI1 and its role in neuronal function. Skin cells donated by individuals with SMS have been used to generate induced pluripotent stem cells, which were then converted to neuronal cells to create a cell-based system to further assess RAI1 function in neurons.  These studies will enhance our knowledge of the cellular pathways affected by RAI1 and will inform our understanding of neuronal function in SMS.