Research

Assembling the Retinal Diseasome:

Retinal degenerative diseases and underlying causes are diverse. Genetic factors play significant roles in inherited retinal degenerations (IRD) as well as complex diseases such as age-related macular degenerations. Despite fixed-at-birth genetic makeup, pathological manifestations in the retina are age dependent. This leads to our hypothesis that in the pre-disease retina, unrelated genetic mutations converge to a finite set of disease onset programs. We aim to capture this framework in a retinal diseasome (a concept inspired by the human diseasome). Through multi-omic studies in disease models, the retinal diseasome will capture genetic factors, disease processes, and counteracting pathways that attempt to restore homeostasis.

Uncovering molecular links between retinal gene regulation and the environment: 

Aging is associated with declining visual acuity and is the primary risk factor for age-related neurodegenerative diseases. Spontaneous epigenetic alterations are known drivers of cellular aging and have been demonstrated in the retina. Environmental factors such as diet and nutrition modulate aging-retinal health and are risk factors in age-related diseases. Short- and long-term experiments in murine cohorts can model influence of independent environmental factors (eg. diet and nutrition) on retinal aging. We investigate how lifestyle choices, such as nutrition, influence retinal molecular landscapes and especially the Epigenome-Metabolism nexus.