$56,000
This grant-funded research was to a premier AS researcher who was instrumental in developing a mouse model for AS and who demonstrated that an important enzyme associated with the synapse, CAMKII, was inhibited or partially inactivated in Angelman mice. Subsequent experiments by others were able to release this CAMKII inhibition and provided an impressive correction of the features of AS thereby opening the door to the possibility of new therapeutic strategies to treat some of the symptoms of AS. Additional work from this grant showed that the physical structure of the synapse was generally intact and also began to identify additional proteins that interact with UBE3A.
The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.