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Research Programs

Towards Therapeutics for Genetic Corneal Dystrophies
Supported by the Canadian Institutes of Health Research.

The goal of this research program is to find ways to cure and prevent three forms of genetic blindness (Congenital hereditary endothelial dystrophy (CHED), Fuchs endothelial corneal dystrophy (FECD) and Harboyan syndrome (HS)). CHED and HS are discovered at birth or shortly thereafter and are therefore childhood diseases. FECD appears in late adulthood, but is three-fold more common in women than men, therefore being a women’s health issue. The cornea is the outermost layer of the eye. In these diseases, the cornea fills with fluid that makes vision hazy and makes it harder to see. At present the only treatment for this condition is corneal transplant. The three genetic diseases are all caused by mutations of the same poorly understood gene called SLC4A11. SLC4A11 encodes an integral membrane protein, found in te corneal endothelium. The goal of our studies is to develop treatments for these corneal dystrophies, by testing the way to "fix" the diseased SLC4A11 protein in appropriate mice and cell culture models.

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