Human genetics has become a dominant field in biology and medicine over the past half-century. This stems not only from its critical ability to explain even the most basic biological processes, but also from its growing repertoire of novel 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, researchers have not taken full advantage of available genotypic and phenotypic data related to eye diseases. This is due primarily to the lack scientists who have been adequately trained in both ocular phenotyping and genomics. The principal goal of this Training Program in Quantitative Ocular Genomics (TPQOG) is to fill this need by training researchers at the intersection of eye disease and computational genomic analysis. The Program builds upon the foundational relationship between the Vanderbilt Genetics Institute (VGI, formerly the Center for Human Genetics Research) and the Vanderbilt Eye Institute (VEI). The newly-developed VGI holds a central place in the organization of research entities at the Vanderbilt University Medical Center, and the VEI has grown tremendously in research depth and breadth over the past decade. For predoctoral training, the program builds upon Vanderbilt's existing predoctoral Interdisciplinary Graduate Program (IGP) and its large pool of excellent student applicants. Thus far, the predoctoral TPQOG students have been part of the Human Genetics or Biomedical Informatics PhD programs. With Vanderbilt's particular strengths in statistical genetics, computational genomics, genetic epidemiology, bioinformatics, and clinical and basic ophthalmological research, all predoctoral trainees undergo a rigorous didactic program and intensive research training. Postdoctoral trainees are integrated into our extensive and rich research environment through individualized didactic and laboratory training enhanced by regular seminars, journal clubs, an informal works-in-progress seminar, and an annual retreat. The program has already made a substantial impact on the field, training four predoctoral and four postdoctoral researchers in computational genomics related to eye diseases. Given establishment of the new VGI and the continued expansion of unique Vanderbilt genomic resources such as its DNA biobank (BioVU), we believe that the next grant period will be even more productive.

Public Health Relevance

This training program for both predoctoral and postdoctoral fellows will provide training in statistical genetics and genome bioinformatics with an emphasis on their applications to the biology of ocular disease. Trainees will be provided an integrated environment affording specific training in both clinical and genomic aspects of quantitative ocular phenotypes.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Institutional National Research Service Award (T32)
Project #
5T32EY021453-07
Application #
9317489
Study Section
Special Emphasis Panel (ZEY1)
Program Officer
Agarwal, Neeraj
Project Start
2011-02-01
Project End
2021-06-30
Budget Start
2017-07-01
Budget End
2018-06-30
Support Year
7
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Vanderbilt University Medical Center
Department
Type
Schools of Medicine
DUNS #
965717143
City
Nashville
State
TN
Country
United States
Zip Code
37240
Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A et al. (2018) Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. BMC Bioinformatics 19:18
Restrepo, Nicole A; Laper, Sarah M; Farber-Eger, Eric et al. (2018) Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records. BMC Med Genomics 11:70
Sivley, R Michael; Dou, Xiaoyi; Meiler, Jens et al. (2018) Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures. Am J Hum Genet 102:415-426
Anderson, Kristin A; Huynh, Frank K; Fisher-Wellman, Kelsey et al. (2017) SIRT4 Is a Lysine Deacylase that Controls Leucine Metabolism and Insulin Secretion. Cell Metab 25:838-855.e15
Simonti, Corinne N; Pavlicev, Mihaela; Capra, John A (2017) Transposable Element Exaptation into Regulatory Regions Is Rare, Influenced by Evolutionary Age, and Subject to Pleiotropic Constraints. Mol Biol Evol 34:2856-2869
Calkins, David J; Pekny, Milos; Cooper, Melissa L et al. (2017) The challenge of regenerative therapies for the optic nerve in glaucoma. Exp Eye Res 157:28-33
Hohman, Timothy J; Cooke-Bailey, Jessica N; Reitz, Christiane et al. (2016) Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimers Dement 12:233-43
Hall, Jacob B; Bush, William S (2016) Analysis of Heritability Using Genome-Wide Data. Curr Protoc Hum Genet 91:1.30.1-1.30.10
Bond, Wesley S; Hines-Beard, Jessica; GoldenMerry, YPaul L et al. (2016) Virus-mediated EpoR76E Therapy Slows Optic Nerve Axonopathy in Experimental Glaucoma. Mol Ther 24:230-239
Hines-Beard, Jessica; Bond, Wesley S; Backstrom, Jon R et al. (2016) Virus-mediated EpoR76E gene therapy preserves vision in a glaucoma model by modulating neuroinflammation and decreasing oxidative stress. J Neuroinflammation 13:39

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