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Extracellular Vesicle RNAs as Biomarkers for Inherited Retinal Degenerations
March 27, 2025Inherited retinal degenerations (IRD) are important causes of vision loss due to progressive dysfunction of photoreceptor and retinal pigment epithelial (RPE) cells of the retina. Pathogenic variants in the PRPF31 gene are among the most common causes of dominant IRD. In a recent study, published in Molecular Therapy: Methods &... Read More

Dr. Lizzy Rossin of the OGI profiled in Retina Today
March 13, 2025WHERE IT ALL BEGAN I grew up in Newton, Massachusetts, and went to the Winsor School for high school. When I was younger, I was always interested in math and science. I loved physics and ultimately decided to get my undergraduate degree in engineering at the University of Pennsylvania before deciding to apply my interest in quantitative... Read More

Increased Ethnic Diversity Needed in Genetic Studies of Primary Open Angle Glaucoma
March 10, 2025A study by OGI members Inas Aboobakar MD, Ayellet Segre, PhD and Janey Wiggs, MD. PhD used cross ancestry genome-wide association studies to identify novel risk loci as well as differences in known loci across ancestries highlighting the need for increased ethnic diversity in glaucoma genetic studies. The paper was selected for presentation... Read More

Inas Aboobakar MD receives a Research to Prevent Blindness Career Development Award
January 14, 2025Dr. Aboobakar is a clinician-scientist in the Wiggs lab and Glaucoma Service at Mass Eye & Ear. With this grant she will be investigating the clinical features associated with mitochondrial copy number variation andheteroplasmy in primary open-angle glaucoma.

Optimized prime editing system successfully addressed the low efficiency often observed in hiPSCs
December 30, 2024The genetic background of a model may contain additional variants that contribute to the disease and complicate phenotype rescue. In this manuscript, we utilize prime editing technology to safely introduce point mutations into hiPSCs and generate isogenic disease models. With our optimized system, we successfully address the low efficiency... Read More

New Research on CFAP410-associated ciliopathy
November 21, 2024New publication by Riccardo Sangermano, PhD of the OGI’s Bujakowska lab, and colleagues reports on CFAP410- associated ciliopathy supporting its association with non-syndromic retinal degeneration. Read More

The Ocular Genomics Institute was well represented at the 2024 Iser meeting in Buenos Aires Argentina
October 31, 2024The following OGI members made presentations: Ayellet Segre PhD: GWAS and Transcriptomics riven drug repurposing for glaucoma Read More

Anil Chekuri Receives 2024 Iraty Award for Research in Retinal Diseases
October 31, 2024OGI investigator Anil Chekuri of the Grousbeck Gene Therapy Center and the Vandenberghe lab, is the 2024 Iraty Award which pays tribute to the life and work of Dr. Charles Schepens. The prize money will be used to support Anil's research, which aims to develop gene therapy to rescue retinal ganglion cell loss in familial dysautonomia Read More

Eric Pierce presents Lerner Lecture at Cleveland Clinic
October 31, 2024Eric Pierce MD PhD OGI director Eric Pierce presented ongoing research on the genetics of and the genetic therapies for inherited retinal degenerations at the 24th Lerner Lecture at the Cleveland Clinic in July. This prestigious lecture honors the late Chairman of the Cleveland Clinic Board. Previous Recipients have included eight Nobel... Read More