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Understanding neurodevelopmental disorders using human pluripotent stem cell-derived neurons

Tamburini, Claudia and Li, Meng ORCID: 2017. Understanding neurodevelopmental disorders using human pluripotent stem cell-derived neurons. Brain Pathology 27 (4) , pp. 508-517. 10.1111/bpa.12517

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Research into psychiatric disorders has long been hindered by the lack of appropriate models. Induced pluripotent stem cells (iPSCs) offer an unlimited source of patient-specific cells, which in principle can be differentiated into all disease-relevant somatic cell types to create in vitro models of the disorder of interest. Here, neuronal differentiation protocols available for this purpose and the current progress on iPSCs-based models of schizophrenia, autism spectrum disorders and bipolar disorder were reviewed. We also discuss the impact of the recently developed CRISPR/Cas9 genome editing tool in the disease modeling field. Genetically engineered mutation of disease risk alleles in well characterized reference “control” hPSCs or correction of disease risk variants in patient iPSCs has been used as a powerful means to establish causality of the identified cellular pathology. Together, iPSC reprogramming and CRISPR/CAS9 genome editing technology have already significantly contributed to our understanding of the developmental origin of some major psychiatric disorders. The challenge ahead is the identification of shared mechanisms in their etiology, which will ultimately be relevant to the development of new treatments.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Neuroscience and Mental Health Research Institute (NMHRI)
Uncontrolled Keywords: disease modeling; human pluripotent stem cells; neurodevelopment; neuronal differentiation; psychiatric disorders
Publisher: Wiley
ISSN: 1015-6305
Date of First Compliant Deposit: 4 July 2017
Date of Acceptance: 23 April 2017
Last Modified: 07 Nov 2023 02:51

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