Inherited 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

OGI members Eric Pierce MD, PhD and Read More

WHERE 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

A 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

Dr. 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.

The 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 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 following OGI members made presentations: Ayellet Segre PhD:  GWAS and Transcriptomics riven drug repurposing for glaucoma Read More

OGI 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 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