How many mutations can you possibly have with one gene? Let's see what CRISPR can deliver.
We created over 90 point mutations in the STXBP1 gene via CRISPR! A map of these point mutations can be seen below. Clinical variants were selected from the ClinVar database, literature, the Gnomad database, clinical researchers, and the STXBP1 foundation.
We received a Phase 1 SBIR to characterize point mutations in the STXBP1 gene, which is associated with epilepsy in humans. The worm homolog of STXBP1, unc-18, causes uncoordination and near-complete lack of pharyngeal pumping when knocked out. The functionality is restored by replacing the worm gene with the coding sequence for human STXBP1.