About this Research Topic

Background

Inherited retinal dystrophies are a heterogeneous group of diseases caused by a wide variety of genetic changes associated with clinically diverse symptoms. Mutations over 290 genes have been reported to be associated with various forms of retinal degeneration in humans. These mutations can be recessive or dominant leading to loss of function or accumulation of mutated protein. Being an immune privileged tissue, retinal gene therapy has a tremendous potential for in vivo gene editing to rescue the disease phenotype. Gene editing in the retina therefore arises as a novel therapeutic strategy to correct the mutations at the endogenous locus and rescue normal gene expression.

Even though gene editing appears to be a straight forward one step solution to achieve therapeutic efficacy for several genetic disorder effecting the retina, efficient delivery of gene editing tools into the proper target cells in vivo and subsequent gene modification in a sufficient number of cells to prevent disease progression is challenging. Especially to target certain cell types in the retina which are post mitotic gene editing could pose some challenges. In addition, continuous expression of gene editing machinery in the cells might lead to off target effects. Cellular tropism and allele specific differences might also play a crucial role in employing gene editing strategies to certain diseases.

We welcome the submissions of Original Research and Reviews that focus on the following aspects, but are not limited to:

• Retinal gene editing and challenges
• Strategies for treating autosomal dominant retinal dystrophies
• Gene editing approach to correct loss of function mutations on long genes that are difficult to for traditional gene supplementation (Focus on USH, ABCA4)
• Novel exon modifying approaches to treat splicing disorders (Exon skipping or Inclusion)
• Novel delivery methods for gene editing in the retina

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• Brief Research Report
• Editorial
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• ... View all formats

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Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Editorial
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Policy Brief
• Review
• Systematic Review

Keywords: Retinal gene editing, CRISPR, Retinal transduction, AAV, Large animal models

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