Ocular Genomics Institute

Ocular Genomics Institute
genome-wide association study

Harvard Medical School Department of Ophthalmology

Eric A. Pierce, M.D., Ph.D.

Elizabeth Engle, M.D.
Luk H. Vandenberghe, Ph.D.
Janey L. Wiggs, M.D., Ph.D.

The Ocular Genomics Institute (OGI) translates personalized genomic medicine into clinical care for ophthalmic disorders by facilitating and promoting genomics and gene therapy research in the Department of Ophthalmology. The OGI provides various services and expertise to internal and external institutions through the Genomics Core, Gene Transfer Vector Core, and the MEE Bioinformatics Center.


  • The Genetic Eye Disorder (GEDi) panel: The OGI developed a comprehensive genetic diagnostic test that simultaneously analyzes the coding sequence and selected intronic regions of 234 genes associated with inherited retinal degenerations, early-onset glaucoma and optic atrophy, as well as the mitochondrial genome, for likely-pathogenic mutations. Mass. Eye and Ear is the first and only location in Boston and in the northeast to offer this service.
  • A critical role for the complement system in macular degeneration: In a study published in the journal Human Molecular Genetics, OGI researchers reported the unexpected finding that in mice genetically engineered to have an inherited form of macular degeneration, the disease was prevented by turning off the animals’ complement system, a part of the immune system. This is the first report to demonstrate a role for the complement system in an inherited macular degeneration.
  • Complete catalog of the retinal transcriptome: In the journal BMC Genomics, OGI researchers published the most thorough description of gene expression in the human retina reported to date. Almost 30,000 novel exons and over 100 potential novel genes were identified. In total, the newly detected mRNA sequence increased the number of exons identified in the human genome by 3 percent.

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Image: Genome-wide association results in the GLAUGEN-NEIGHBOR meta-analysis of two independent studies for glaucoma. From: Wiggs et al. PLoS Genet. 2012;8(4):e1002654.