Identifying potential therapeutic strategies for the treatment of Angelman syndrome
Dr. Weeber has performed crucial genetic and therapeutic studies on the AS mouse model and was instrumental in conducting one of the first experiments that rescued many of the neurophysiological and behavioral problems of the Angelman mouse. To help build upon this work, ASF provided grant funding to explore a number of potential therapeutic strategies using the Angelman mouse model.
These strategies included novel attempts at gene therapy and experiments to explore new protein regulators of UBE3A function. His lab studied neurophysiological properties of hippocampal neurons and also evaluated more global brain regions to evaluate results of these studies. Work from this grant, as well as evidence from other lines of research, show that imprinting of UBE3A in neurons in the mouse brain is quite widespread if not globally distributed.