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开发遗传性视网膜疾病的非人灵长类动物模型。

Developing Non-Human Primate Models of Inherited Retinal Diseases.

作者信息

Seah Ivan, Goh Debbie, Chan Hwei Wuen, Su Xinyi

机构信息

Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, 1E Kent Ridge Road, NUHS Tower Block Level 7, Singapore 119 228, Singapore.

Department of Ophthalmology, National University Hospital, 1E Kent Ridge Road, NUHS Tower Block Level 7, Singapore 119 228, Singapore.

出版信息

Genes (Basel). 2022 Feb 14;13(2):344. doi: 10.3390/genes13020344.

Abstract

Inherited retinal diseases (IRDs) represent a genetically and clinically heterogenous group of diseases that can eventually lead to blindness. Advances in sequencing technologies have resulted in better molecular characterization and genotype-phenotype correlation of IRDs. This has fueled research into therapeutic development over the recent years. Animal models are required for pre-clinical efficacy assessment. Non-human primates (NHP) are ideal due to the anatomical and genetic similarities shared with humans. However, developing NHP disease to recapitulate the disease phenotype for specific IRDs may be challenging from both technical and cost perspectives. This review discusses the currently available NHP IRD models and the methods used for development, with a particular focus on gene-editing technologies.

摘要

遗传性视网膜疾病(IRDs)是一组在遗传和临床方面具有异质性的疾病,最终可能导致失明。测序技术的进步使得对IRDs有了更好的分子特征描述以及基因型与表型的关联。这推动了近年来治疗方法开发的研究。临床前疗效评估需要动物模型。由于与人类在解剖学和遗传学上具有相似性,非人灵长类动物(NHP)是理想的选择。然而,从技术和成本角度来看,开发NHP疾病以重现特定IRDs的疾病表型可能具有挑战性。本文综述了目前可用的NHP IRD模型以及用于开发的方法,特别关注基因编辑技术。

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