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Inherited retinopathies – insights from in vitro retinogenesis

Lookup NU author(s): Professor Majlinda LakoORCiD

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Abstract

The demand of iPSC-derived retinal organoid and RPE models for the modelling of inherited retinopathies has increased significantly in the last decade. These models are comparable with foetal retina up until the later stages of retinogenesis, expressing all of the key neuronal markers necessary for retinal function. These models have proven to be invaluable in the understanding of retinogenesis, particular in the context of patient-specific disease. Inherited retinopathies are infamously described as clinically and phenotypically heterogeneous, such that developing gene/mutation-specific animal models in each instance of retinal disease is not financially or ethically feasible. Further to this, many animal models are insufficient in the study of disease pathogenesis due to anatomical differences and failure to recapitulate human disease phenotypes. In contrast, iPSC-derived retinal models provide a high throughput platform which is physiologically relevant for studying human health and disease. They also serve as a platform for drug screening, gene therapy approaches, and in vitro toxicology of novel therapeutics in pre-clinical studies. One unique characteristic of stem cell derived retinal models is the ability to mimic in vivo retinogenesis, providing unparalleled insights into the effects of pathogenic mutations in cells of the developing retina, in a highly accessible way. This review aims to give the reader an overview of iPSC-derived retinal organoids and/or RPE in the context of disease modelling of several inherited retinopathies including Retinitis Pigmentosa, Stargardt disease and Retinoblastoma. We describe the ability of each model to recapitulate in vivo disease phenotypes, validate previous findings from animal models and identify novel pathomechanisms that underpin individual IRDs.


Publication metadata

Author(s): Watson A, Lako M

Publication type: Article

Publication status: In Press

Journal: Journal of Anatomy

Year: 2022

Acceptance date: 11/09/2022

ISSN (electronic): 1469-7580

Publisher: Wiley


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