Human genetics has emerged over the past 50 years as a dominant force in biology and medicine. This critical position stems not only from its central importance in explaining the most basic biological processes, but also from its growing repertoire of critical technologies and methods that can elucidate molecular, cellular, organismal, and population biology. However, the application of these technologies and methods to different diseases and phenotypes has varied greatly. Despite the medical, social, and cultural importance of eyesight, genetic studies of ocular phenotypes have lagged behind other disease entities. This is due in part to the lack of cross-disciplinary training opportunities. The primary goal of this Training Program in Quantitative Ocular Genomics is to fill this gap by training a new generation of ocular researchers who have specific expertise in genomic analysis. The proposed Training Program in Quantitative Ocular Genomics requests two pre-doctoral and four post-doctoral training slots. It builds upon the substantial increase in resources, faculty, facilities, and expertise in both ophthalmology (through the Vanderbilt Eye Institute) and human genetics (through the Center for Human Genetics Research) at Vanderbilt. For pre-doctoral training it also builds upon Vanderbilt's existing pre-doctoral Interdisciplinary Graduate Program (IGP) and its excellent and large pool of student applicants. Our goal is to train future investigators to characterize genetic variation and understand its phenotypic implications on ocular phenotypes in humans. Vanderbilt has particular strengths in statistical genetics, computational genomics, genetic epidemiology, bioinformatics, and clinical and basic ophthalmological research. All pre-doctoral trainees will undergo a rigorous didactic program and intensive research training. Post-doctoral trainees will be integrated into our extensive and rich research environment. We have enhanced this training program with regular seminars, journal clubs, an informal works-in-progress seminar, and an annual retreat. To ensure a balanced and complete training experience, each trainee will be co-mentored by a preceptor with extensive experience in genomics and another in ocular function.

Public Health Relevance

This training program will provide training into statistical genetics and genome bioinformatics for both pre-doctoral and post-doctoral fellows. They will have an integrated training environment providing specific training in both the clinical and genomic aspects of quantitative ocular phenotypes.

National Institute of Health (NIH)
National Eye Institute (NEI)
Institutional National Research Service Award (T32)
Project #
Application #
Study Section
Special Emphasis Panel (ZEY1-VSN (01))
Program Officer
Agarwal, Neeraj
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Vanderbilt University Medical Center
Schools of Medicine
United States
Zip Code
Springelkamp, Henriët; Höhn, René; Mishra, Aniket et al. (2014) Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun 5:4883
Mitchell, Sabrina L; Hall, Jacob B; Goodloe, Robert J et al. (2014) Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies. BioData Min 7:6
Hall, Jacob B; Dumitrescu, Logan; Dilks, Holli H et al. (2014) Accuracy of administratively-assigned ancestry for diverse populations in an electronic medical record-linked biobank. PLoS One 9:e99161
Ozel, A Bilge; Moroi, Sayoko E; Reed, David M et al. (2014) Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet 133:41-57
Bailey, Jessica N Cooke; Yaspan, Brian L; Pasquale, Louis R et al. (2014) Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet 133:1319-30
Restrepo, Nicole A; Spencer, Kylee L; Goodloe, Robert et al. (2014) Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. Invest Ophthalmol Vis Sci 55:6839-50
Hoffman, Joshua D; Cooke Bailey, Jessica N; D'Aoust, Laura et al. (2014) Rare complement factor H variant associated with age-related macular degeneration in the Amish. Invest Ophthalmol Vis Sci 55:4455-60
Cooke Bailey, Jessica N; Sobrin, Lucia; Pericak-Vance, Margaret A et al. (2013) Advances in the genomics of common eye diseases. Hum Mol Genet 22:R59-65