Lab discovers new OPA1 mutation that causes optic atrophy

Fri, 01/19/2018 - 09:45

The Glaucoma Genetics Lab identified a defect in the OPA1 gene that causes optic nerve atrophy that is dominantly inherited in a large family. We created a model of the protein encoded by the OPA1 gene (shown above) and we studied the effects of the disease-causing mutation on the protein structure and function. Read more about the discovery here.

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