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New SLC38A8 Mutation Identified

Feb 26 2017

Posted In:

20/20 Blog, Press


The fovea is the region of the retina responsible for high-resolution vision. However, in some patients the fovea is under-developed in a condition called foveal hypoplasia. We discovered a new mutation in a gene called SLC38A8 that leads to foveal hypoplasia and vision loss. Through genomic analysis and computational biochemistry, we were able to make new connections between the SLC38A8 gene and the protein it produces. By better understanding the mechanisms by which genetic mutations cause altered function in proteins, we can develop more precise and powerful therapies for patients.