Donnelley Laboratory of Gene Regulation and Expression
Discovery of molecular defect is the key to the understanding of pathogenesis in the inherited disorders and the normal biological function of the gene. Our research focus on several inherited disorders, such as, mucopolysaccharidoses (MPS), oculo-skeletal dysplasia (OSD), hemophilias (A and B), and blinding disorders, such as, age-related macular degeneration (AMD) and congenital stationary night blindness (CSNB). Our aim is to understand the biochemical, molecular and genetic mechanism causing disease pathology, to develop means to diagnose and treat these disorders. The inherited diseases we study are found in humans and companion animals. MPS results in systemic disorders and early death due to specific lysosomal enzyme deficiency whereas OSD results in chondrodysplasia and ocular defects. We have developed ocular gene therapy both in vitro and in vivo. The strategy developed for gene therapy will be applied to specific eye disorders, such as, AMD, CSNB.