# Ocular Genomics Institute ## expand\_more ![Ocular Genomics](/sites/g/files/omnuum9886/files/eye/files/copy_of_untitled_11.png) Sort***Director*** [Eric A. Pierce, MD, PhD](/ericpierce) ***Associate Directors*** [Elizabeth Engle, MD](/elizabethengle) [Luk H. Vandenberghe, PhD](/lukvandenberghe) [Janey L. Wiggs, MD, PhD](/janeywiggs) ***Members*** [See a list of OGI faculty](/faculty/ogi) [Visit the OGI website](https://oculargenomics.meei.harvard.edu/) The Ocular Genomics Institute (OGI) aims to translate genomic medicine into precision ophthalmic care for patients with inherited eye disorders. OGI researchers are working to achieve this goal through a combination of efforts, including: - Laboratory-based translational research - The application of modern gene therapy technologies to identify new disease genes and improve inherited retinal disorder diagnosis - Clinical research directed toward the development of clinical trials of novel gene therapies - Providing state-of-the-art clinical care for patients with ophthalmic genetic disorders, including comprehensive genetic testing The OGI team works with several other departments and teams to achieve its mission. Via the [Genomics Core](https://oculargenomics.meei.harvard.edu/services/genomics-core-services/), the OGI provides clinical genetic diagnostic testing and research services, including whole exome and whole genome sequencing, SNP-based genotype analyses, and copy number variant analyses, to both internal and external institutions. The Mass. Eye and Ear Bioinformatics Center helps analyze genomic data. And the [Gene Transfer Vector Core](http://vector.meei.harvard.edu/) (GTVC) offers researchers expert advice regarding the design and execution phases of gene therapy experiments, as well as the production of research-grade gene therapy reagents. The [Grousbeck Gene Therapy Center](http://www.vdb-lab.org/), which encompasses Dr. Luk Vandenberghe’s research laboratory and the GTVC, is supported by a generous donation from the Grousbeck Family Foundation. ## 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 will ultimately help improve genetic diagnoses for patients, leading to the use of genetically informed therapies to preserve and/or restore vision. ## Ocular Genomics News - [Discovery Opens Doors for AAV Gene Therapy Research](https://focus.masseyeandear.org/discovery-opens-doors-for-aav-gene-therapy-research/) - [Making Gene Therapy History](https://focus.masseyeandear.org/making-gene-therapy-history/) - [Researchers to Build Cell Atlas of the Human Eye as Part of International Collaboration](https://focus.masseyeandear.org/researchers-to-build-cell-atlas-of-the-human-eye-as-part-of-international-collaboration/) ## Recent Publications Download 4 citations download- [BibTeX](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=bibtex) - [EndNote X3 XML](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=endnote8) - [EndNote 7 XML](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=endnote7) - [Endnote tagged](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=tagged) - [Marc](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=marc) - [PubMedId](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=pubmed_id) - [RIS](/bibcite/export?pager_style=no_pager&number_of_items=4&sort_field=bibcite_year--desc&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B0%5D%5Btarget_id%5D=53516&taxonomy_filters%5Bfield_hwp_c_researcharea%5D%5B1%5D%5Btarget_id%5D=36036&&&format=ris) ### 2024 Suwajanakorn, Lane, Go, Hartley, Oxenreiter, Wu, Gragoudas E, Sullivan, Montazeri, Kim I. [Impact of gene expression profiling on diagnosis and survival after metastasis in patients with uveal melanoma](/publications/impact-gene-expression-profiling-diagnosis-and-survival-after-metastasis-patients). Melanoma Res. 2024; PMID: 38578293 Suwajanakorn, Lane, Go, Hartley, Oxenreiter, Wu, Gragoudas E, Sullivan, Montazeri, Kim I. [Impact of gene expression profiling on diagnosis and survival after metastasis in patients with uveal melanoma](/publications/impact-gene-expression-profiling-diagnosis-and-survival-after-metastasis-patients). Melanoma Res. 2024; PMID: 38578293 - add\_circle do\_not\_disturb\_on Abstract Surveillance frequency for metastasis is guided by gene expression profiling (GEP). This study evaluated the effect of GEP on time to diagnosis of metastasis, subsequent treatment and survival. A retrospective study was conducted of 110 uveal melanoma... Martinez Sanchez M, Chan WM, MacKinnon S, Barry B, Hunter D, Engle E, Whitman M. [Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia](/publications/presence-copy-number-variants-associated-esotropia-patients-exotropia). JAMA Ophthalmol. 2024;142(3):243–247. PMID: 38358749 Martinez Sanchez M, Chan WM, MacKinnon S, Barry B, Hunter D, Engle E, Whitman M. [Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia](/publications/presence-copy-number-variants-associated-esotropia-patients-exotropia). JAMA Ophthalmol. 2024;142(3):243–247. PMID: 38358749 - add\_circle do\_not\_disturb\_on Abstract IMPORTANCE: Strabismus is a common ocular disorder of childhood. There is a clear genetic component to strabismus, but it is not known if esotropia and exotropia share genetic risk factors. OBJECTIVE: To determine whether genetic duplications associated... Lecoquierre F, Punt M, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks A, Slegtenhorst M, Jurgens J, Barry B, Chan WM, England E, Martinez Ojeda M, Engle E, Robson C, Morrow M, Innes M, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. [A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder](/publications/recurrent-missense-variant-e3-ubiquitin-ligase-substrate-recognition-subunit-fem1b). Genet Med. 2024;:101119. PMID: 38465576 Lecoquierre F, Punt M, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks A, Slegtenhorst M, Jurgens J, Barry B, Chan WM, England E, Martinez Ojeda M, Engle E, Robson C, Morrow M, Innes M, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. [A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder](/publications/recurrent-missense-variant-e3-ubiquitin-ligase-substrate-recognition-subunit-fem1b). Genet Med. 2024;:101119. PMID: 38465576 - add\_circle do\_not\_disturb\_on Abstract PURPOSE: FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status... Advani J, Mehta P, Hamel A, Mehrotra S, Kiel C, Strunz T, Corso-Díaz X, Kwicklis M, Asten F, Ratnapriya R, Chew E, Hernandez D, Montezuma S, Ferrington D, Weber B, Segrè A, Swaroop A. [QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration](/publications/qtl-mapping-human-retina-dna-methylation-identifies-87-gene-epigenome-interactions). Nat Commun. 2024;15(1):1972. PMID: 38438351 Advani J, Mehta P, Hamel A, Mehrotra S, Kiel C, Strunz T, Corso-Díaz X, Kwicklis M, Asten F, Ratnapriya R, Chew E, Hernandez D, Montezuma S, Ferrington D, Weber B, Segrè A, Swaroop A. [QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration](/publications/qtl-mapping-human-retina-dna-methylation-identifies-87-gene-epigenome-interactions). Nat Commun. 2024;15(1):1972. PMID: 38438351 - add\_circle do\_not\_disturb\_on Abstract DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites... ## Recent News [### Luk H. Vandenberghe, PhD, Named Grousbeck Family Chair in Gene Therapy at Mass. Eye and Ear ](/news/luk-h-vandenberghe-phd-named-grousbeck-family-chair-gene-therapy-mass-eye-and-ear) March 15, 2019 [### Gene Therapy Platform Developed by Neena Haider, PhD, Granted FDA Orphan Drug Designation ](/news/gene-therapy-platform-developed-neena-haider-phd-granted-fda-orphan-drug-designation) February 27, 2019 [### Luk Vandenberghe, PhD, Builds Designer Viruses for Improved Gene Therapy ](/news/luk-vandenberghe-builds-designer-viruses-improved-gene-therapy) December 19, 2018 [### Scientists, Advocates Team Up to Launch Odylia Therapeutics to Accelerate Gene Therapy Trials for Rare Conditions Causing Blindness ](/news/scientists-advocates-team-launch-odylia-therapeutics-accelerate-gene-therapy-trials-rare) March 07, 2018 [### Ocugen Expands Focus on Inherited Retinal Disorders by Licensing Novel Modifier Gene Therapy Platform ](/news/ocugen-expands-focus-inherited-retinal-disorders-licensing-novel-modifier-gene-therapy) December 20, 2017 [### Luk H. Vandenberghe, PhD, to receive Foundation Fighting Blindness Award ](/news/luk-h-vandenberghe-phd-receive-foundation-fighting-blindness-award) August 15, 2017 [ More arrow\_circle\_right ](/news?f%5B0%5D=hwp_c_category1%3A65321)