Our lab investigates molecular mechanisms regulating photoreceptor gene expression in the retina and the implications of these mechanisms in understanding retina development and diseases. We are focusing on the network of photoreceptor transcription factors (TF) and their mechanism of action. The cone-rod homeobox protein CRX, residing in the center of this TF network, is required for photoreceptor gene expression, development and survival. Mutations in human CRX are linked to blinding retinal diseases. To determine the mechanism(s) by which CRX mutations cause disease, we developed mouse models carrying representative human CRX mutations and obtained access to a feline model of CRX disease. We are performing morphological, eletrophysiological and biochemical assays on these animal models to determine disease pathogenesis and the underlined mechanisms. We are also developing AAV gene therapy and drug treatment using these animal models. Our research will lead to a better understanding of retinal diseases associated with transcription misregulation and potential treatments.

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