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Research Articles

Strategy aims to overcome RP heterogeneity using gene therapy treatment with dominant retinitis pigmentosa

Researchers at the Scheie Eye Institute, University of Pennsylvania, has reported that a mutation-independent strategy for treating autosomal dominant retinitis pigmentosa (adRP) prevents photoreceptor cell death in the retina.  The research team developed a gene therapy approach using a single adeno-associated viral (AAV) system delivering the experimental treatment to a large animal model of RP.  […]

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An international natural history study for patients with RP caused by EYS mutations

Researchers led by Prof. Mark Pennesi M.D., Ph.D., based at the Ophthalmic Genetics Oregon Health & Science University, Portland, USA, has launched a new international natural history study, called “Rate of Progression in EYS Related Retinal Degeneration (Pro-EYS)”.  The study will be funded by the Foundation Fighting Blindness, and will involve 25 centres across the […]

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A research study of methylation as an epigenomic biomarker in rare ophthalmic diseases

Researchers based in Queen’s University Belfast (QUB), UK have reported a systematic review of differential methylation in rare ophthalmic diseases.  Methylation of key epigenomic biomarkers, such as DNA methylation or histone modification, has identified a review of at least eight studies showing pathogenic biomarkers for ophthalmic disease.  These ophthalmic disorders include brittle cornea syndrome, choroideraemia, […]

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