Disease Models from Pluripotent Stem Cells

Turning Back Time in Disease Pathogenesis?


  • Claudia Lengerke,

    1. Division of Hematology and Oncology, University of Tuebingen Medical Center II, Tuebingen, Germany
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  • George Q. Daley

    1. Howard Hughes Medical Institute, Chevy Chase, Maryland, USA
    2. Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Children's Hospital Boston, Boston, Massachusetts, USA
    3. Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA
    4. Harvard Stem Cell Institute, Cambridge, Massachusetts, USA
    5. Manton Center for Orphan Disease Research, Boston, Massachusetts, USA
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Address for correspondence: Claudia Lengerke, M.D., Division of Hematology and Oncology, University of Tuebingen Medical Center II, Otfried-Mueller-Str. 10, 72074 Tuebingen, Germany. Voice: +49-7071-2982912; fax: +49-7071-294524. claudia.lengerke@med.uni-tuebingen.de


Murine models of congenital and acquired diseases are invaluable yet often do not faithfully mirror human pathophysiology. Embryonic stem (ES) cells differentiated in vitro recapitulate aspects of early embryogenesis and differentiate into multiple somatic tissues, thereby serving as a powerful platform for developmental studies in the human. Analysis of genetically modified ES cells (by lentiviral gene transduction or derivation from embryos carrying genetic diseases, for example) offers the unprecedented opportunity to study in detail disease initiation and progression during embryonic development. ES cells and induced pluripotent stem (iPS) cells obtained by somatic cell reprogramming from patients affected by various disorders promise unique insights into the gradual pathogenesis of disease, moreover enabling development of customized cellular therapies by in vitro gene correction in autologous cells.