Journal
CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 46, Issue -, Pages 123-131Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2017.06.002
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Funding
- European Research Council-ERC [2012-StG-311736-PD-HUMMODEL]
- Spanish Ministry of Economy and Competitiveness-MINECO [SAF2015-69706-R, BFU2013-49157-P]
- Instituto de Salud Carlos III-ISCIII/FEDER (Red de Terapia Celular) [TerCel RD16/0011/0024]
- AGAUR [2014-SGR-1460]
- CERCA Programme/Generalitat de Catalunya
- Spanish Ministry of Education-MEC [FPU12/03332]
- Economy and Competitiveness-MINECO [BES-2014-069603]
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Patient-specific iPSC are being intensively exploited as experimental disease models. Even for late-onset diseases of complex genetic influence, such as Parkinson's disease (PD), the use of iPSC-based models is beginning to provide important insights into the genetic bases of PD heritability. Here, we present an update on recently reported genetic risk factors associated with PD. We discuss how iPSC technology, combined with targeted edition of the coding or noncoding genome, can be used to address clinical observations such as incomplete penetrance, and variability in phenoconversion or age-at-onset in familial PD. Finally, we also discuss the relevance of advanced iPSC/CRISPR/Cas9 disease models to ascertain causality in genotype-to-phenotype correlation studies of sporadic PD.
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