• disease-specific pluripotent stem cells;
  • human induced pluripotent stem cells;
  • human embryonic stem cells;
  • disease models

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.