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Ovando-Roche P, Georgiadis A, Smith AJ, et al. Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration. Curr Stem Cell Rep. 2017;3(2):112-123doi: 10.1007/s40778-017-0078-4.
Ovando-Roche, P., Georgiadis, A., Smith, A. J., Pearson, R. A., & Ali, R. R. (2017). Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration. Current stem cell reports, 3(2), 112-123. https://doi.org/10.1007/s40778-017-0078-4
Ovando-Roche, Patrick, et al. "Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration." Current stem cell reports vol. 3,2 (2017): 112-123. doi: https://doi.org/10.1007/s40778-017-0078-4
Ovando-Roche P, Georgiadis A, Smith AJ, Pearson RA, Ali RR. Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration. Curr Stem Cell Rep. 2017;3(2):112-123. doi: 10.1007/s40778-017-0078-4. Epub 2017 Apr 18. PMID: 28596937; PMCID: PMC5445184.
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Curr Stem Cell Rep. 2017;3(2):112-123. doi: 10.1007/s40778-017-0078-4. Epub 2017 Apr 18.

Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration.

Current stem cell reports

Patrick Ovando-Roche, Anastasios Georgiadis, Alexander J Smith, Rachael A Pearson, Robin R Ali

Affiliations

  1. Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL UK.

PMID: 28596937 PMCID: PMC5445184 DOI: 10.1007/s40778-017-0078-4

Abstract

PURPOSE OF REVIEW: A major cause of visual disorders is dysfunction and/or loss of the light-sensitive cells of the retina, the photoreceptors. To develop better treatments for patients, we need to understand how inherited retinal disease mutations result in the dysfunction of photoreceptors. New advances in the field of stem cell and gene editing research offer novel ways to model retinal dystrophies in vitro and present opportunities to translate basic biological insights into therapies. This brief review will discuss some of the issues that should be taken into account when carrying out disease modelling and gene editing of retinal cells. We will discuss (i) the use of human induced pluripotent stem cells (iPSCs) for disease modelling and cell therapy; (ii) the importance of using isogenic iPSC lines as controls; (iii) CRISPR/Cas9 gene editing of iPSCs; and (iv) in vivo gene editing using AAV vectors.

RECENT FINDINGS: Ground-breaking advances in differentiation of iPSCs into retinal organoids and methods to derive mature light sensitive photoreceptors from iPSCs. Furthermore, single AAV systems for in vivo gene editing have been developed which makes retinal in vivo gene editing therapy a real prospect.

SUMMARY: Genome editing is becoming a valuable tool for disease modelling and in vivo gene editing in the retina.

Keywords: Disease modelling; Gene editing; Induced pluripotent stem cells; Photoreceptors; Retina; Vision impairment

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