Dijue is utilizing the Saturation Genome Editing (SGE) method to investigate variants in the mismatch repair genes. SGE is a deep mutational scanning technique that utilizes CRISPR/Cas9 technology to mutate every single nucleotide in cells, allowing for the assessment of loss of function. The identification and validation of pathogenic variants are crucial for clinical purposes, providing valuable information for cancer prevention, early diagnosis, and treatment.
Additionally, Dijue is interested in the functions of non-coding regions in the human genome, which are currently not well defined. She is employing a double CRISPR knock-out strategy, where two single guide RNAs are used simultaneously to delete regions of interest in the non-coding regions, and the resulting phenotype is evaluated by fitness. Dijue hopes to use both SGE and optical pooled screening methods in the downstream process to determine the nucleotides with regulatory potential that impact cell growth and death in the regions of interest.