Dr. Joseph Wagstaff Carolinas Medical Center
Testing for Correction of the Angelman Syndrome Phenotype of UBE3A-Maternal-Deficient Mice by UBE3A Transgene
This project was continued funding for an important AS investigator to enable his laboratory to work on studies of UBE3A in the mouse model in the hope of developing novel therapeutic initiatives. The experimental approach in this grant was to use genetic engineering so as to insert the human UBE3A into embryonic mouse cells (e.g., create a transgene) and then, ultimately, to attempt therapeutic expression of UBE3A to correct some of the features exhibited by the Angelman mice. Theoretically, this approach would represent a correction of the abnormalities in the mouse model. This research subsequently showed how difficult it was to control and enable transgene expression of UBE3A.