Ongoing Projects
Molecular characterization of ABCA4 variants associated with Stargardt Disease
Application of gene therapy as a treatment for retinal degenerative diseases
Development of polymeric agents for the isolation and molecular characterization of membrane proteins.
Structure of ABCA4 in its open state showing the location of over 50 of 1200 missense variants implicated in Stargardt Disease. These mutations are spread throughout the ABC transporter composed of 2273 amino acids.