Ocular Genomics Institute

Ocular Genomics InstituteThe 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.

Ocular Genomics InstitutePhoto credit: Daniel Navarro and Jason Comander, MD, PhD; Image credit: Next Generation Sequencing Slide.

Director
Eric A. Pierce, MD, PhD

Associate Directors
Elizabeth Engle, MD
Luk H. Vandenberghe, PhD
Janey L. Wiggs, MD, PhD

 

Members
See a list of OGI faculty

Visit the OGI website

Recent Projects

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.

Featured News

Luk Vandenberghe, PhD, Builds Designer Viruses for Improved Gene Therapy

December 19, 2018

Luk Vandenberghe, PhD

In Nature, Luk Vandenberghe, PhD, Harvard Medical School Associate Professor of Ophthalmology and Director of the Grousbeck Gene Therapy Center at Mass. Eye and Ear, discusses increasing the efficiency of gene therapies by manipulating the viral vectors that transport genes into cells. He also talks about taking a nonprofit approach to tackle the economics of developing gene therapy for rare diseases.... Read more about Luk Vandenberghe, PhD, Builds Designer Viruses for Improved Gene Therapy

Scientists, Advocates Team Up to Launch Odylia Therapeutics to Accelerate Gene Therapy Trials for Rare Conditions Causing Blindness

March 7, 2018

New nonprofit organization will bring treatments to clinical trial for people at risk for blindness due to ultra-rare inherited retinal diseases.

Luk Vandenberghe in laboratory

Boston, Mass. — Scientists and advocates today announced the formation of ...

Read more about Scientists, Advocates Team Up to Launch Odylia Therapeutics to Accelerate Gene Therapy Trials for Rare Conditions Causing Blindness
Luk Vandenberghe

Luk H. Vandenberghe, PhD, to receive Foundation Fighting Blindness Award

August 15, 2017

Luk H. Vandenberghe, PhD, along with collaborator and lead author Rob Collin, PhD, of Radboud University Medical Center, has been selected to receive the 2017 Ed Gollob Board of Directors’ Award from the Foundation Fighting Blindness (FFB). This award is presented annually in recognition of significant research advancements. According to the FFB, their winning paper, “In vitro and in vivo rescue of aberrant splicing in CEP290-...

Read more about Luk H. Vandenberghe, PhD, to receive Foundation Fighting Blindness Award
Luk Vandenberghe

Lonza to Offer Novel Anc-AAV Gene Therapy Technology Through Exclusive Licensing Agreement with Massachusetts Eye and Ear

September 12, 2016
  • The strategic licensing agreement between Lonza and Massachusetts Eye and Ear® underscores Lonza’s position as a leading AAV manufacturing service provider and offers customers unprecedented technology and services to commercialize next generation gene therapies.
  • The Anc-AAV vector platform has the potential to overcome pre-existing immunity in order to treat more patients compared with other viral vectors currently in development.
  • Anc80, the lead novel Anc-AAV available for sublicensing, is a potent gene therapy vector capable of superior gene expression levels in...
Read more about Lonza to Offer Novel Anc-AAV Gene Therapy Technology Through Exclusive Licensing Agreement with Massachusetts Eye and Ear
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