Genetics in Inherited Retinal Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (15 November 2023) | Viewed by 55562
Special Issue Editors
2. Nuffield Laboratory of Ophthalmology, NDCN, University of Oxford, Oxford, UK
Interests: gene therapy; vitreoretinal surgery; genetics; retina
Special Issue Information
Dear Colleagues,
With the first approved gene therapy for an inherited retinal disease (IRD), the genetics underlying these blinding conditions have received considerable attention. Together with technological advances, this new focus helps to gain momentum towards improved access to molecular genetic diagnostics and further academic work on existing knowledge gaps.
This Special Issue aims to provide a snapshot of some of the current IRDs in focus of translational efforts. Contributions might shed light on the genetic heterogeneity of mutations found in a specific disease gene, explore genotype-phenotype correlations, characterise model systems reflecting the genetic pathology, diagnostic biomarkers, pathophysiological mechanisms, and novel therapeutic approaches. To progress in the knowledge of such intricate issues, contributions by experts in the field in the form of research papers and critical reviews are called for.
Prof. Dr. M. Dominik Fischer
Prof. Dr. Susan Downes
Guest Editors
Manuscript Submission Information
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Keywords
- inherited retinal diseases
- retina
- genetics
- genetic therapies
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