Inherited forms of RD affect the light-sensing photoreceptors leading to an irreversible vision loss. Different forms of RD present with substantial clinical and genetic heterogeneity; nevertheless, common features of all forms are (1) degeneration of photoreceptors, subsequently leading to blindness, and (2) no available treatment. Taking a systems biology approach combining bioanalytic, proteogenomic and computational analytical strategies, we aim at in-depth understanding of overarching rod and cone cell death pathways affected in RD. Based on a holistic understanding of key systemic perturbations that cause disease, we are currently developing therapy for RD that is mutation independent.

In particular, our research group has provided a proof of concept that rebalancing defects in proteostasis and energy consumption can significantly slow down RD. Especially in photoreceptors (PR), the production of large quantities of visual pigment generates a huge demand for energy equivalents and protein folding capacity. Maintenance of protein and energy homeostasis comes to the limit, when a cell gets out of balance due to disease. Importantly, this happens independently of the disease-associated mutation. Similarly, our therapeutic principle is mutation independent.