Lay Abstract

This project addresses a critical clinical challenge: why do CHMers exhibit highly divergent rates of disease progression?  They hypothesize that genetic modifiers (i.e., other genes or genetic differences) either offer protection or accelerate disease progression.  To identify these elements, they employ a "multi-omics" strategy, simultaneously analyzing DNA, RNA, and protein interactions within thousands of individual cells. They will focus further on patient-derived retinal cells (iRPE) from individuals with exceptionally mild or severe symptoms to define their unique molecular signatures.

The long-term objective is to move beyond uniform diagnostic approaches to establish a framework that assists clinicians in predicting disease trajectories for both genders, interpreting complex genetic findings, and identifying novel targets for individualized intervention. This foundational work aims to facilitate precision medicine strategies tailored to the biological profile of each patient.

Key Findings

This research is currently underway. Key findings will be published upon research conclusion.