Are the neurological symptoms of Angelman Syndrome reversible? An inducible mouse model for Angelman Syndrome
This grant to Dr. Elgersma and his colleagues, built further upon his earlier significant work demonstrating that many of the neurological and behavioral features of the Angelman mouse model could be reversed by changing the phosphorylation status of an important enzyme located near the neuronal synapse, CAMKII.
This project funded a bold effort to establish a new Angelman mouse model that would enable the UBE3A gene to be turned on after an Angelman mouse is born. This research strategy is to learn to what extent the abnormalities in AS might be reversible at some period after the time of birth. If successful, this project would provide a “proof of principle” that therapeutic initiatives might be successful after a child with AS is born.
This study proved that earlier intervention is better and gives evidence to support the inclusion of young children in clinical trials.