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.

National Institute of Health (NIH)
National Center for Research Resources (NCRR)
Mentored Patient-Oriented Research Career Development Award (K23)
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Special Emphasis Panel (ZRR1-CR-2 (01))
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Wilde, David B
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University of Utah
Schools of Medicine
Salt Lake City
United States
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Blackburn, Marcus K; Lamb, Randy D; Digre, Kathleen B et al. (2009) FL-41 tint improves blink frequency, light sensitivity, and functional limitations in patients with benign essential blepharospasm. Ophthalmology 116:997-1001
Katz, Bradley J; Pomeranz, Howard D (2006) Visual field defects and retinal nerve fiber layer defects in eyes with buried optic nerve drusen. Am J Ophthalmol 141:248-253
Adams, Wesley H; Digre, Kathleen B; Patel, Bhupendra C K et al. (2006) The evaluation of light sensitivity in benign essential blepharospasm. Am J Ophthalmol 142:82-87
Katz, Bradley J; Zhao, Yu; Warner, Judith E A et al. (2006) A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. Am J Med Genet A 140:2207-11
Li, Chunmei; Kosmorsky, Gregory; Zhang, Kang et al. (2005) Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Am J Med Genet A 138A:208-11
Jiang, Li; Katz, Bradley J; Yang, Zhenglin et al. (2005) Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis 11:143-51
Floyd, Michael S; Katz, Bradley J; Digre, Kathleen B (2005) Measurement of the scleral canal using optical coherence tomography in patients with optic nerve drusen. Am J Ophthalmol 139:664-9
Spencer, Terrence S; Katz, Bradley J; Weber, Steve W et al. (2004) Progression from anomalous optic discs to visible optic disc drusen. J Neuroophthalmol 24:297-8
Payne, Marielle; Yang, Zhenglin; Katz, Bradley J et al. (2004) Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138:749-55