Dr. Val Sheffield
I am a medical and molecular geneticist with broad expertise in the molecular genetics of human genetics diseases, as well as clinical genetics. My laboratory has a long history of identifying and understanding the functions of genes that cause a variety of human disorders, including but not limited to retinal diseases and glaucoma. My research efforts have focused on the molecular genetics of monogenic disorders that have phenotypic overlap with common complex diseases. This approach provides insights into the types of genes, mutational events, and gene product interactions that contribute to common complex disorders. A long- term project in his laboratory has focused on the study of Bardet-Biedl syndrome, a project that helped lead to extensive interest in the scientific community in the signaling role of primary cilia. My laboratory has had an active role in the human and the rat genome projects, and uses gene transfer technologies and knockout mouse models to understand how mutations in the genes identified by the laboratory lead to disease in the affected tissues. Recent efforts in my laboratory include using mouse models to develop treatments with the eventual goal of developing interventions for human disease.