Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a genetic disorder that results in night blindness, loss of peripheral vision, and in severe cases complete blindness. RP can be caused by mutations in many different genes. Rhodopsin is a G-protein coupled receptor found in photoreceptor cells in the retina of our eyes. Mutations in rhodopsin can lead to RP by causing instability, misfolding, or altered function of the protein. Some of these mutations are well characterized, but there are many rhodopsin variants that have an unknown significance. The Meiler lab works with the Schlebach Lab at Indiana University to characterize mutations in rhodopsin. The Schlebach lab uses deep mutational scanning techniques to gather data on a large number of mutants. The Meiler lab models these mutations to understand the molecular mechanisms behind the observed effects of these mutations.