Project: Base editing to correct CSNK2A1 R47Q

Lead Investigator: Gregory Newby, PhD | Johns Hopkins University

Grant Details:

Project funded for one year starting in 2026 for a total of $8,000.

Aims of Grant: 

The R47Q variant is the second most common disease-causing CSNK2A1 variant. Because of its location in the CSNK2A1 gene sequence, R47Q is a good candidate for base editing, a gene-editing technique that can change single DNA letters without cutting both DNA strands. This offers a precise and safer method for correcting disease-causing variants. The approach has successfully corrected mutations in many models of genetic disease.  

This project will use base editing in human induced pluripotent stem cells (iPSCs) harboring the R47Q variant. iPSCs are adult cells reprogrammed into a stem-cell state that can develop into many other cell types. The edited cells can then be differentiated into cell types such as neurons, allowing researchers to evaluate the effects of base editing.