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Francesca Kim wins ARVO outstanding poster award
May 14, 2025The highly competitive ARVO members in training (MIT) outstanding poster awards are presented to one of five top scored abstracts from each scientific session at the ARVO annual meeting. The award for the outstanding poster in the Genetics Cross-Sectional Group went to Francesca Kim for her project titled’ Expression of genes in novel... Read More
Friedenwald Award Lecture presented by OGI member Connie Cepko at ARVO 2025 annual meeting
May 14, 2025The 2025 Friedenwald award was presented to Connie Cepko, PhD, Bullard Professor of Genetics and Neuroscience at Harvard Medical School. Her lecture “ The retina: A Mosaic of radial founder cell clones “, focusses on the mechanisms used for cell fate choices among the many progeny of multipotent progenitor cells. This award honors... Read More
Findings highlight the significance of Vascular Endothelial Protein Tyrosine Phosphatase in diverse ocular and systemic veno-vascular diseases.
May 14, 2025A gene-wide association study led by Elizabeth Rossin MD,PhD identified a missense mutation in PTRBP related to Central Serous Chorioretinopathy, Varicose... Read More
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
BRILLIANCE Trial shows CRISPR Gene Editing Found Safe and Effective for Treating Patients with rare genetic disorder.
March 25, 2025OGI members Eric Pierce MD, PhD and 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