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The Use of Human Pluripotent Stem Cells (hPSCs) and CRISPR-Mediated Gene Editing in Retinal Diseases

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Advances in Vision Research, Volume III

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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Abstract

The human retina is one of the most complex tissues of the body, composed of various specialized cells organized in a fashion that enables the reception, conversion, preliminary-processing and final transmission of light signals to the brain. Dysfunction of any of the retinal cell types essential for normal vision ultimately leads to vision decline and potentially blindness. Diseases affecting the retina and optic nerve can broadly be divided into two forms, either complex or monogenic diseases. Complex, multifactorial diseases include age-related macular degeneration and glaucoma. Rarer heritable retinopathies and optic neuropathies, often affecting the young, include Stargardt Disease, Usher Syndrome, Leber’s Hereditary Optic Neuropathy, Best Disease, Choroideremia and Retinitis Pigmentosa. To understand the genetic and pathological features of retinal diseases, it is imperative that appropriate models and technologies are implemented to enhance the prospects of therapies for patients. For the purpose of this chapter, we will focus on the current technologies used for generating retinal disease models in vitro, and how gene-editing technologies such as CRISPR/Cas are propelling ophthalmic research into the spotlight.

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Acknowledgements

The authors declare no potential conflicts of interest. This work was supported by grants from the Macular Disease Foundation of Australia, the Jack Brockhoff Foundation, the Yulgilbar Alzheimer’s Research Program, the DHB Foundation. Further support was provided by an NHMRC Practitioner Fellowship (AWH), an NHMRC Senior Research Fellowship (1154389, AP), the University of Melbourne and Operational Infrastructure Support from the Victorian Government.

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Author notes

  1. Alice Pébay and Damián Hernández contributed equally.

Authors and Affiliations

  1. Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Australia

    Grace E. Lidgerwood

  2. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia

    Grace E. Lidgerwood

  3. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia

    Alex W. Hewitt

  4. School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia

    Alex W. Hewitt

  5. Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Australia

    Alice Pébay

  6. Department of Surgery, Royal Melbourne Hospital, The University of Melbourne, Melbourne, Australia

    Alice Pébay

  7. Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Australia

    Damián Hernández

Authors
  1. Grace E. Lidgerwood
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  2. Alex W. Hewitt
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  3. Alice Pébay
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  4. Damián Hernández
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Corresponding author

Correspondence to Alice Pébay .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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Lidgerwood, G.E., Hewitt, A.W., Pébay, A., Hernández, D. (2021). The Use of Human Pluripotent Stem Cells (hPSCs) and CRISPR-Mediated Gene Editing in Retinal Diseases. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_31

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  • DOI: https://doi.org/10.1007/978-981-15-9184-6_31

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