Grant: Operating Grant

Williams syndrome (WS) is a genetic disorder that presents with a complex set of medical and cognitive symptoms. People with WS have a range of disabilities such as intellectual impairment, severe anxiety and poor spatial skills, yet have relatively well preserved language abilities and a natural friendliness and empathy. WS is caused by the deletion of a small region on one copy of chromosome 7 that removes key genes involved in the development and function of the human brain. Understanding how these key genes contribute to the features of WS will further our understanding of the genetic basis of cognitive function and give insight into common problems like mental retardation and anxiety disorder. We will use brain cells made from patient blood cells, and mouse models to interrogate the role of specific genes that have been implicated in WS, and so take advantage of this unique opportunity to link genes with human behavior and brain function.