My laboratory is interested in identifying and understanding the function of genes, which cause a variety of human disorders. Our research efforts have focused on the molecular genetics of monogenic disorders with focus on hereditary blindness including Bardet-Biedl Syndrome, retinitis pigmentosa, Leber's congenital amaurosis, and glaucoma. The overall goal of my research is to understand the genetic basis and the pathophysiology of specific human genetic diseases and to improve their management. This goal includes (1) identifying the molecular components of hereditary eye diseases; (2) determining the functions of the genes/proteins associated with these disorders; (3) determining genetic and protein interactions, as well as defining the protein complexes and networks that contribute to these diseases; (4) developing animal models to aid in determining the phenotype-specific pathophysiology; and (5) utilizing animal models to develop interventions and treatments including drug treatment, gene therapy and stem cell (iPS cell) therapy.

A major focus of my laboratory has been the study of the genetically heterogeneous, pleiotropic Bardet-Biedl syndrome (BBS). Progress has included the identification of numerous disease-causing genes involved in BBS and other forms of hereditary blindness. Importantly, my laboratory has played a key role in elucidating the function of BBS proteins, and identified and characterized BBS protein complexes. Studies of animal models in my laboratory have shown that BBS proteins function in intraflagellar transport (IFT) (trafficking to cilia) and intracellular transport. Through our study of BBS, my laboratory has become interested in the study of signaling via the primary cilium and in relating the functions of primary cilia in rare monogenic disorders to common diseases including retinal degeneration, neurological defects, obesity, hypertension and diabetes.

Recent publications