A synthetic gene therapy approach for Angelman syndrome

2020 Pilot Project Read More

Investigators

Principal Investigator: Jason Yi (WashU Dept of Neuroscience)
Collaborator: Susan Maloney (WashU Psychiatry)

Description

Angelman Syndrome (AS) is a debilitating, life-long disorder characterized by intellectual disability, motor issues, sleep disturbances, and epilepsy. AS is caused by the deletion or mutation of the maternal copy of UBE3A, a gene also linked to autism, bipolar disorder, and age-related cognitive decline. Our laboratory recently uncovered a class of inert, synthetic proteins that can modulate the activity of UBE3A. Here, we propose studies to determine if viral delivery of a synthetic protein that potently stimulates the ligase activity of UBE3A can correct behavioral abnormalities in a mouse model of Angelman Syndrome. If successful, our study will provide a new method that may reverse phenotypes in Angelman Syndrome through gene therapy.

Investigators

Pilot project teams include Hope Center faculty members and others. For more about Hope Center faculty on this team, click below.

Jason Yi