The Ocular Genomics Institute (OGI) translates genomic medicine into precision ophthalmic care. Via the Genomics Core, the OGI provides clinical genetic diagnostic testing and research services, such as whole exome and whole genome sequencing, SNP-based genotype analyses, and copy number variant analyses.
Assistance with analyses of genomic data is provided by the Mass. Eye and Ear Bioinformatics Center. The Gene Transfer Vector Core (GTVC) offers researchers expert advice regarding the design and execution phase of gene therapy experiments, as well as production of research-grade gene therapy reagents. The Grousbeck Gene Therapy Center, which encompasses Dr. Luk Vandenberghe’s research laboratory and the GTVC, is supported by a generous donation from the Grousbeck Family Foundation.
Photo credit: Daniel Navarro and Jason Comander, MD, PhD; Image credit: Next Generation Sequencing Slide.
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 250 genes associated with IRD, 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.
Major Research Breakthroughs
- Created one of the leading centers for early-phase clinical trials of therapies for inherited retinal degenerations, with seven gene-based and one stem cell trial currently in progress
- Developed and implemented a next-generation, sequencing-based diagnostic test for inherited eye diseases
- Helped define the genetic causes of inherited retinal degenerations and congenital cranial dysinnervation disorders
- Reconstructed a synthetic adeno-associated virus gene therapy vector that is highly effective at delivering therapeutic genes to the eye, ear, liver, and muscle tissue
- Deployed the tools of CRISPR-Cas9-mediated genome and base editing to facilitate research studies of and develop therapies for inherited eye disorders
2020 Vision: Promising Areas For Future Research
Looking to the future, our investigators aim to use precision medicine broadly for inherited eye diseases. This ultimately will help improve genetic diagnoses for patients, leading to the use of genetically informed therapies to preserve and/or restore vision.