Pharmacogenomics and metabolomics of retinal diseases
Our goal is to develop personalized treatment regimens for patients with degenerative retinal diseases. Our research focuses on genetic and environmental influences on disease development, progression, and response to treatment for age-related macular degeneration (AMD) and diabetic retinopathy.
AMD is influenced by common variations in genes such as complement factor H (CFH) and the ARMS2 locus. It appears that oxidative stress may also play a role in AMD pathogenesis. We have shown that the oxidized thiol cystine may be linked to AMD and its risk factors, such as age and a polymorphism in the CFH gene.
Our laboratory now employs the cutting-edge technique of metabolomics to quantify 3500-7000 metabolites in plasma, yielding comprehensive metabolic profiles for AMD patients and controls. We hypothesize that alterations in oxidative stress-related metabolic pathways influence AMD development, progression, and response to treatment. We aim to identify the specific combination of metabolic and genetic profiles that predicts an individuala??s disease course.
We are currently recruiting patients for a study on the metabolomics of diabetic retinopathy. By comparing the genetic and metabolic profiles of diabetics with and without retinopathy, we aim to isolate the combination of genetic predisposition and metabolic pathways that predict risk of developing diabetic retinopathy.