Novrouz Akhmedov, PhD

UCLA - Visionary

Project title: "Studies on 7R, a novel protein that when mutated causes autosomal recessive retinitis pigmentosa"

 

Our research is focused on the identification of genes that when mutated cause retinal degenerations in animal models and humans. One gene recently isolated in our laboratory produces a novel retinal protein, 7R.  This protein appears to be involved in the development of the retina and in the formation of the outer segment of cone photoreceptors.  We have discovered that in a family with autosomal recessive retinitis pigmentosa (arRP), only the members that have inherited from each parent an allele with a mutated 7R are affected with the disease; those members with only one mutated 7R allele are carriers and do not have retinitis pigmentosa. Our studies on 7R will not only increase our understanding of this protein’s function in the retina, but may also uncover new treatment possibilities for retinitis pigmentosa and other related degenerative diseases.