Here at the Silverman lab, in close collaboration with the Anderson lab, are funded by a 4.5$ Million dollar grant from the California Institute for Regenerative Medicine (CIRM) to test a promising treatment that may reduced or eliminate Angelman Syndrome (AS) symptoms by replacing a missing protein, UBE3A.
Angelman Syndrome is a genetic disorder resulting from the loss of a gene called UBE3A and its subsequent protein which plays a pivotal role in the development and function of the nervous system. There is currently no specific therapy for AS making our work a critical unmet need for affected individuals and families.
Our current work is to expand on a prior study from 2021 that demonstrated the effectiveness of stem cell therapy in a mouse model of AS at 2 time points, adult and young. The goal of the current study is to focus on the safety of the therapy with the hopes to bring it to human clinical trials. The key to this study is achieving the right balance of UBE3A as too little won’t relieve AS symptoms, but too much can lead to a different neurodevelopmental disorder Dup15q.
Importantly, if this strategy works it opens a whole new world of possibilities for individuals and families with rare genetic disorders to have targeted therapeutics.
Dr. Jill Silverman and Dr. Joseph Anderson
At Aggie Square, UC Davis' Innovation District.