I am applying for this award in pursuit of my long-term career objective to combine my interests in patient care, research, and teaching. I see my role as an individual who can bridge the gap between the basic sciences and medicine and I hope to work closely with basic scientists in a way that I can translate advances in the basic sciences into better patient care. My career development plan is based upon a comprehensive curriculum developed by the University of Utah specifically to train physicians planning academic careers as clinical investigators. This curriculum includes didactics in epidemiology, biostatistics, experimental design, bioethics, human genetics, molecular biology, biochemistry, and utilization of animal models in the development of clinical research projects. I have already established a strong working relationship with my mentor and will continue to play an active role in his laboratory. The University of Utah provides an ideal environment for the training of physician researchers focused on the inherited basis of human disease and the University has ample facilities, resources, and expertise necessary for me to complete the proposed research project. This research project involves optic nerve drusen (OND), acellular, laminated concretions of unknown etiology that form within the optic nerve. OND is a common disease, occurring in approximately 2% of the population, and is thought to be transmitted as an autosomal dominant trait. Like patients with glaucoma, most patients with optic nerve drusen are asymptomatic. However, most patients with OND have identifiable peripheral visual field defects and some patients experience severe visual field loss. OND probably renders the optic nerve susceptible to other diseases of the optic nerve, such as ischemic optic neuropathy and glaucoma. It is hypothesized that OND is a significant source of visual disability in the U.S. population, that OND is transmitted as an autosomal dominant trait, and that OND is caused by mutations in a single gene. Families with OND will be ascertained, characterized clinically, and the natural history will be documented. The responsible gene will be mapped using a general linkage approach and then isolated and characterized. These data may suggest novel therapies to prevent the visual field loss associated with OND. In addition, these data may yield information about other diseases of the optic nerve.
