HomeInVivo Biosystems BlogClinical Avatar90 Mutations with 1 Gene: Functional Analysis of Variants Using C. elegans

90 Mutations with 1 Gene: Functional Analysis of Variants Using C. elegans

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. 

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