Investigating monogenic and complex diseases with pluripotent stem cells

Hao Zhu, M. William Lensch, Patrick Cahan, George Q. Daley

Research output: Contribution to journalArticle

83 Scopus citations

Abstract

Human genetic studies have revealed the molecular basis of countless monogenic diseases but have been less successful in associating phenotype to genotype in complex multigenic conditions. Pluripotent stem cells (PSCs), which can differentiate into any cell type, offer promise for defining the functional effects of genetic variation. Here, we recount the advantages and practical limitations of coupling PSCs to genome-wide analyses to probe complex genetics and discuss the ability to investigate epigenetic contributions to disease states. We also describe new ways of using mice and mouse embryonic stem cells (ESCs) in tandem with human stem cells to further define genotype-phenotype relationships.

Original languageEnglish (US)
Pages (from-to)266-275
Number of pages10
JournalNature Reviews Genetics
Volume12
Issue number4
DOIs
Publication statusPublished - Apr 2011

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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