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Eye on a Dish Models to Evaluate Splicing Modulation

Hau, Kwan-Leong; Lane, Amelia; Guarascio, Rosellina; Cheetham, Michael E; (2022) Eye on a Dish Models to Evaluate Splicing Modulation. Methods in Molecular Biology , 2434 pp. 245-255. 10.1007/978-1-0716-2010-6_16. Green open access

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Abstract

Inherited retinal dystrophies, such as Leber congenital amaurosis, Stargardt disease, and retinitis pigmentosa, are characterized by photoreceptor dysfunction and death and currently have few treatment options. Recent technological advances in induced pluripotent stem cell (iPSC) technology and differentiation methods mean that human photoreceptors can now be studied in vitro. For example, retinal organoids provide a platform to study the development of the human retina and mechanisms of diseases in the dish, as well as being a potential source for cell transplantation. Here, we describe differentiation protocols for 3D cultures that produce retinal organoids containing photoreceptors with rudimentary outer segments. These protocols can be used as a model to understand retinal disease mechanisms and test potential therapies, including antisense oligonucleotides (AONs) to alter gene expression or RNA processing. This "retina in a dish" model is well suited for use with AONs, as the organoids recapitulate patient mutations in the correct genomic and cellular context, to test potential efficacy and examine off-target effects on the translational path to the clinic.

Type: Article
Title: Eye on a Dish Models to Evaluate Splicing Modulation
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-1-0716-2010-6_16
Publisher version: https://doi.org/10.1007/978-1-0716-2010-6_16
Language: English
Additional information: © The Author(s) 2022. This chapter is licensed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
Keywords: 3D culture, Differentiation, Induced pluripotent stem cells, Photoreceptor, Retina in a dish, Retinal degeneration, Retinal organoids, Cell Differentiation, Humans, Induced Pluripotent Stem Cells, Organoids, Photoreceptor Cells, Retina, Retinitis Pigmentosa
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10144827
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