Dr. Sneha Singh from University of Iowa Awarded $90,000 Knights Templar Eye Foundation Grant for Retinal Degeneration Research

Dr. Sneha Singh from the University of Iowa, Department of Molecular Physiology and Biophysics, Iowa City, Iowa was awarded a $90,000 grant for her research entitled: Molecular mechanism of PDE6 maturation driven by the Chaperone machinery.

The most common form of neural degenerative disease is retinal degeneration that can lead to vision reduction and blindness. Diseases such as Leber congenital amaurosis, retinitis pigmentosa and recessive achromatopsia involve dysfunction of proteins in the rod and cone photoreceptor cells of the retina. One such key protein involved in visual transduction is phosphodiesterase 6 (PDE6). The function of PDE6 is dependent on a specialized chaperone aryl hydrocarbon receptor-interacting proteinlike 1 (AIPL1) and HSP90 which assist proper folding of PDE6. Mutations and hence malfunctioning of PDE6 and AIPL1 lead to early onset of Leber congenital amaurosis and retinitis pigmentosa resulting in visual impairment in children.

Dr. Singh aims to understand the HSP90 and AIPL1-dependent folding and maturation mechanism of PDE6. The structural elucidation of the enzyme and the client-chaperone complex will provide insights into the interaction of PDE6 with the chaperones at the molecular level which will help her to understand the mechanism of PDE6 maturation process and the underlying mutations that lead to severe retinal diseases. This will aid in development of therapeutic strategies for vision disorders in children.