Smith-Magenis Syndrome is a genetic disorder most commonly caused by a deletion of chromosome 17p11.2, and less commonly by mutations in the RAI1 gene
Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the function of the RAI1 gene. Previous studies in Dr. Elsea’s lab led to the discovery that the RAI1 gene is responsible for most of the symptoms of SMS. The precise function of the RAI1 gene, however, is not yet clear. Using cellular and animal (mouse and zebrafish) models, researchers in Dr. Elsea’s lab are working to better understand the role of RAI1 in development and behavior.
Other studies in Dr. Elsea’s lab are focused on analysis of sleep and eating behaviors in individuals with SMS, with a particular interest in obesity and growth-related problems, among others.
For more information, contact Dr. Elsea via email at email@example.com