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Review
. 2017 Dec 19;90(4):635-642.
eCollection 2017 Dec.

Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases

Katherine Chuang  1 , Mark A Fields  1 , Lucian V Del Priore  1
Affiliations
Review

Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases

Katherine Chuang et al. Yale J Biol Med. .

Abstract

The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are monogenic. Moreover, gene delivery techniques such as the use of adeno-associated virus (AAV) vectors have been optimized for intraocular use, and phase III trials are well underway to treat LCA, a severe form of inherited retinal degeneration, with gene therapy. This review focuses on the use of gene editing techniques and another relatively recent advent, induced pluripotent stem cells (iPSCs), and their potential for the study and treatment of retinal disease. Investment in these technologies, including overcoming challenges such as off-target mutations and low transplanted cell integration, may allow for future treatment of many debilitating inherited retinal diseases.

Keywords: CRISPR/Cas9; gene editing; induced pluripotent stem cells; personalized medicine; retinal degeneration.

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Figures

Figure 1
Figure 1
Diagram of the human eye. The anterior segment of the eye contains the cornea, iris, ciliary body, and lens. The posterior segment of the eye consists of the vitreous humor, retina, choroid, and optic nerve.
Figure 2
Figure 2
Potential applications of induced pluripotent stem cells (iPSCs) and gene editing in treatment of retinal diseases. iPSC-derived photoreceptor or RPE cells can be used for disease modeling, drug screening, and cell therapy. Gene editing can contribute to disease modeling and drug screening by allowing for precise mutagenesis or repair of mutations, allowing for matching genetic backgrounds in experimental and control groups. In cell therapy, gene editing can repair mutations prior to production of cells for autologous transplant.
See this image and copyright information in PMC

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