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Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.
Adv Exp Med Biol. 2019; 1186:1-31.AE

Abstract

Pluripotent stem cell technology, including human-induced pluripotent stem cells (hiPSCs) and human embryonic stem cells (hESCs), has provided a suitable platform to investigate molecular and pathological alterations in an individual cell type using patient's own cells. Importantly, hiPSCs/hESCs are amenable to genome editing providing unique access to isogenic controls. Specifically, the ability to introduce disease-causing mutations in control (unaffected) and conversely correct disease-causing mutations in patient-derived hiPSCs has provided a powerful approach to clearly link the disease phenotype with a specific gene mutation. In fact, utilizing hiPSC/hESC and CRISPR technology has provided significant insight into the pathomechanism of several diseases. With regard to the eye, the use of hiPSCs/hESCs to study human retinal diseases is especially relevant to retinal pigment epithelium (RPE)-based disorders. This is because several studies have now consistently shown that hiPSC-RPE in culture displays key physical, gene expression and functional attributes of human RPE in vivo. In this book chapter, we will discuss the current utility, limitations, and plausible future approaches of pluripotent stem cell technology for the study of retinal degenerative diseases. Of note, although we will broadly summarize the significant advances made in modeling and studying several retinal diseases utilizing hiPSCs/hESCs, our specific focus will be on the utility of patient-derived hiPSCs for (1) establishment of human cell models and (2) molecular and pharmacological studies on patient-derived cell models of retinal degenerative diseases where RPE cellular defects play a major pathogenic role in disease development and progression.

Authors+Show Affiliations

Department of Ophthalmology, Flaum Eye Institute, University of Rochester, Rochester, NY, USA. Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA.Department of Ophthalmology, Flaum Eye Institute, University of Rochester, Rochester, NY, USA. Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA.Department of Ophthalmology, Flaum Eye Institute, University of Rochester, Rochester, NY, USA. Ruchira_Singh@URMC.Rochester.edu. Department of Biomedical Genetics, University of Rochester, Rochester, NY, USA. Ruchira_Singh@URMC.Rochester.edu. UR Stem Cell and Regenerative Medicine Institute, Rochester, NY, USA. Ruchira_Singh@URMC.Rochester.edu. Center for Visual Science, University of Rochester, Rochester, NY, USA. Ruchira_Singh@URMC.Rochester.edu.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31654384

Citation

Dalvi, Sonal, et al. "Pluripotent Stem Cells to Model Degenerative Retinal Diseases: the RPE Perspective." Advances in Experimental Medicine and Biology, vol. 1186, 2019, pp. 1-31.
Dalvi S, Galloway CA, Singh R. Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective. Adv Exp Med Biol. 2019;1186:1-31.
Dalvi, S., Galloway, C. A., & Singh, R. (2019). Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective. Advances in Experimental Medicine and Biology, 1186, 1-31. https://doi.org/10.1007/978-3-030-28471-8_1
Dalvi S, Galloway CA, Singh R. Pluripotent Stem Cells to Model Degenerative Retinal Diseases: the RPE Perspective. Adv Exp Med Biol. 2019;1186:1-31. PubMed PMID: 31654384.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective. AU - Dalvi,Sonal, AU - Galloway,Chad A, AU - Singh,Ruchira, PY - 2019/10/27/entrez PY - 2019/10/28/pubmed PY - 2019/11/2/medline KW - Age-related macular degeneration KW - Choroidal neovascularization KW - Drusen KW - Human induced pluripotent stem cell (hiPSC) KW - Retinal degenerative diseases KW - Retinal pigment epithelium KW - Retinitis pigmentosa KW - hiPSC-based disease modeling SP - 1 EP - 31 JF - Advances in experimental medicine and biology JO - Adv Exp Med Biol VL - 1186 N2 - Pluripotent stem cell technology, including human-induced pluripotent stem cells (hiPSCs) and human embryonic stem cells (hESCs), has provided a suitable platform to investigate molecular and pathological alterations in an individual cell type using patient's own cells. Importantly, hiPSCs/hESCs are amenable to genome editing providing unique access to isogenic controls. Specifically, the ability to introduce disease-causing mutations in control (unaffected) and conversely correct disease-causing mutations in patient-derived hiPSCs has provided a powerful approach to clearly link the disease phenotype with a specific gene mutation. In fact, utilizing hiPSC/hESC and CRISPR technology has provided significant insight into the pathomechanism of several diseases. With regard to the eye, the use of hiPSCs/hESCs to study human retinal diseases is especially relevant to retinal pigment epithelium (RPE)-based disorders. This is because several studies have now consistently shown that hiPSC-RPE in culture displays key physical, gene expression and functional attributes of human RPE in vivo. In this book chapter, we will discuss the current utility, limitations, and plausible future approaches of pluripotent stem cell technology for the study of retinal degenerative diseases. Of note, although we will broadly summarize the significant advances made in modeling and studying several retinal diseases utilizing hiPSCs/hESCs, our specific focus will be on the utility of patient-derived hiPSCs for (1) establishment of human cell models and (2) molecular and pharmacological studies on patient-derived cell models of retinal degenerative diseases where RPE cellular defects play a major pathogenic role in disease development and progression. SN - 0065-2598 UR - https://www.unboundmedicine.com/medline/citation/31654384/Pluripotent_Stem_Cells_to_Model_Degenerative_Retinal_Diseases:_The_RPE_Perspective_ L2 - https://dx.doi.org/10.1007/978-3-030-28471-8_1 DB - PRIME DP - Unbound Medicine ER -