Ophthalmology & Visual Sciences

Mailing Address

Office: 1269B CBRB
Iowa City, IA 52242
Phone: +1 319 335 7508
Email: john-fingert@uiowa.edu

Web: Glaucoma Genetics Laboratory

Education

BA, Engineering, Dartmouth College, 1991
BE, Engineering, Dartmouth College, Thayer College of Engineering, 1992
MD, Medicine, University of Iowa, 2000
PhD, NIH Medical Scientist Training Program, University of Iowa, 2000
Internship, Internship, transitional, St. Luke's Hospital, Milwaukee, Wisconsin, 2001
Residency, Ophthalmology, Carver College of Medicine, University of Iowa, 2004
Fellowship, Genetics/Glaucoma, Carver College of Medicine, University of Iowa, 2006

Appointments

Primary: Ophthalmology & Visual Sciences
Secondary: Anatomy & Cell Biology

Center and Program Affiliations

• Interdisciplinary Graduate Program in Genetics

Research Interests

Animal models of glaucoma, Cavitary optic disc anomalies, Dominant optic atrophy, Pigment dispersion syndrome, Primary open angle glaucoma, Pseudoexfoliation syndrome, Steroid-induced glaucoma

Research Summary

I am a board-certified ophthalmologist with fellowship training in glaucoma and I have a Ph.D. in ophthalmic genetics. My training and experience has provided me with broad clinical and laboratory expertise to investigate the genetic basis of optic nerve disease. My early research resulted in the detection of the first glaucoma gene, myocilin, and more recently my laboratory has discovered one of two known normal tension glaucoma genes, TBK1. My laboratory is currently investigating the mechanisms by which defects in genes in the autophagy pathway (TBK1, OPTN, and others) lead to normal tension glaucoma using transgenic mice, induced pluripotent stem cells, and other patient-based studies. Other major projects include genetic studies of pigmentary glaucoma, exfoliative glaucoma, dominant optic atrophy, and studies of the genetic basis of quantitative features of glaucoma (eye pressure, corneal thickness, and optic nerve cupping). These projects are part of an overall mission to investigate the genetic basis of optic nerve disease and develop sight-saving therapies for this common group of blinding diseases.

Research Interest

• Molecular genetics of inherited eye diseases
• Genetic testing for inherited eye diseases
• Animal models of inherited eye disease

Current Projects

• Primary open angle glaucoma
• Pseudoexfoliation syndrome
• Pigment dispersion syndrome
• Cavitary optic disc anomalies
• Animal models of glaucoma
• Steroid-induced glaucoma
• Dominant optic atrophy

Publications

• Mullins, R, Skeie, J, Folk, J, Solivan-Timpe, F, Oetting, T, Huang, J, Wang, K, Stone, E, Fingert, J. Evaluation of variants in the selectin genes in age-related macular degeneration. BMC Med Genet 12:58, 2011. [PubMed]
• Fingert, J, Robin, A, Stone, J, Roos, B, Davis, L, Scheetz, T, Bennett, S, Wassink, T, Kwon, Y, Alward, W, Mullins, R, Sheffield, V, Stone, E. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 20(12):2482-94, 2011. [PubMed]
• Kuehn, M, Wang, K, Roos, B, Stone, E, Kwon, Y, Alward, W, Mullins, R, Fingert, J. Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort. Mol Vis 17:430-5, 2011. [PubMed]
• Davis, L, Meyer, K, Schindler, E, Beck, J, Rudd, D, Grundstad, A, Scheetz, T, Braun, T, Fingert, J, Alward, W, Kwon, Y, Folk, J, Russell, S, Wassink, T, Sheffield, V, Stone, E. Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 52(10):7122-33, 2011. [PubMed]
• Meyer, K, Davis, L, Schindler, E, Beck, J, Rudd, D, Grundstad, A, Scheetz, T, Braun, T, Fingert, J, Alward, W, Kwon, Y, Folk, J, Russell, S, Wassink, T, Stone, E, Sheffield, V. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet 129(1):91-100, 2011. [PubMed]
• Trantow, C, Cuffy, T, Fingert, J, Kuehn, M, Anderson, M. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci 52(1):237-48, 2011. [PubMed]
• Fingert, J H. Primary open-angle glaucoma genes. Eye (Lond) 25(5):587-95, 2011. [PubMed]
• Rosenberg, T, Roos, B, Johnsen, T, Bech, N, Scheetz, T, Larsen, M, Stone, E, Fingert, J. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy. Mol Vis 16:2659-68, 2010. [PubMed]
• Tang, L, Scheetz, T, Mackey, D, Hewitt, A, Fingert, J, Kwon, Y, Quellec, G, Reinhardt, J, Abràmoff, M. Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape. Invest Ophthalmol Vis Sci 51(11):5870-7, 2010. [PubMed]
• Skeie, J, Fingert, J, Russell, S, Stone, E, Mullins, R. Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells. Invest Ophthalmol Vis Sci 51(10):5336-42, 2010. [PubMed]