Angelman Syndrome is a genetic disorder caused by mutations affecting or deleting the gene encoding ubiquitin 3A ligase in humans (UBE3A). This disorder affects development and has devastating consequences for locomotion and other aspects of brain function. There is presently no cure for Angelman syndrome.
Students in our lab are working with the worm ortholog of the UBE3A gene to determine if our animals display similar phenotypes to individuals afflicted by this disorder. Ultimately we hope to use the experimental amenability of C. elegans to increase our understanding of the mechanisms behind the disorder and perhaps identify molecular targets for its treatment.
Presently Braidy Megeff and Natalie Burrell are conducting behavioral and molecular experiements to identify neuronal phenotypes in herc-1 worms, which have mutations in the nematode ortholog of UBE3A.
Natalie Burrell Braidy Megeff