Systematic dissection of STXBP1 3’ UTR regulation to facilitate therapeutic development
Awardee: Xuebing Wu
Institution: Columbia University
Grant Amount: $75,460.00
Funding Period: February 1, 2024 - January 31, 2025
Summary:
Most STXBP1 mutations cause diseases by inactivating one copy of the gene. A potential therapy is to increase the expression of the remaining functional copy. By systematically mutating the noncoding regulatory sequences of STXBP1, we have identified promising targets of antisense oligos (ASOs) that can potently increase STXBP1 expression. We will test these ASOs in patient-derived neurons. If successful, these ASOs will be able to treat most STXBP1 patients, regardless the identity of the mutation.