Abhijit Rath

Our lab's interest can broadly be divided into two categories. i. Investigating mechanism of mismatch repair (MMR) deficiency in solid tumors. Primarily, our lab is interested in discovering genetic causes of early-onset colorectal cancer. Specifically, we focus on understanding the disease mechanism in patients who present with tumors exhibiting clinical hallmarks of mismatch repair deficiency yet lack diagnostic proof of hereditary pathogenic changes in the canonical MMR genes or their sporadic inactivation. These patients are categorized as having an unexplained mismatch repair deficiency (uMMRd) or Lynch-like syndrome (LLS). A molecular explanation for LLS patients is often absent. We aim to identify genes which are of diagnostic significance for LLS-suspect patient population. This work is currently supported by the Chris4Life Colorectal Cancer Alliance Early Career Investigator Award Grant. ii. Facilitating CRISPR based functional genomics approaches to allow high throughput precise gene editing. This primarily involves modulation of intrinsic DNA repair pathways to allow highly efficient targeted edit either by use of inhibitors or augmentation with biological modulators.

Journal Articles A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants. Szabo, Elizabeth; Blackburn, Emily; Amodeo, Olivia N; Nadeau, Samantha; Radecki, Alexander A; Grady, James P; Rath, Abhijit; Heinen, Christopher D Human mutation 2025 Jan;2025 3923193 Functional and phenotypic consequences of an unusual inversion in MSH2. Pelletier, Dylan*; Rath, Abhijit*; Sabbaghian, Nelly; Pelmus, Manuela; Hudon, Catherine; Jacob, Karine; Witowski, Leora; Saskin, Avi; Heinen, Christopher D; Foulkes, William D Familial cancer 2023 Nov; Loss of mismatch repair promotes a direct selective advantage in human stem cells. Madden-Hennessey, Kirby; Gupta, Dipika; Radecki, Alexander A; Guild, Caroline; Rath, Abhijit; Heinen, Christopher D Stem Cell Reports 202