Towards Modeling and Therapy of Genetic Diseases Using Pluripotent Stem Cells

  • Petr Dvořák
Part of the Stem Cell Biology and Regenerative Medicine book series (STEMCELL)


Recent advances in basic and preclinical research on human embryonic stem (hES) cells and induced pluripotent stem (hiPS) cells have created the potential for a revolutionary change in medicine. Thanks to several technological developments, both of these cell types can now be derived, expanded, and differentiated under conditions that are compatible with use in cell replacement therapies. Moreover, hiPS cells can be generated from patients’ somatic cells, providing a technically feasible means of overcoming immunological incompatibility between patient and donor cells. All of these achievements have already sparked great interest in the pharmaceutical industry. Along with the continuing efforts of stem cell researchers, this will undoubtedly bring about the future introduction of embryonic and induced pluripotent stem cell science into the clinic. Replacement of missing or damaged cells by healthy, functional cells derived in vitro from pluripotent stem cells is the most obvious clinical application. Eventually, ex vivo repair of genetic mutations in patient-derived somatic cells that are reprogrammed into pluripotent cells and then differentiated into the desired cell types will permit transplantation back into the patient without any risk of immune rejection. A less difficult task, and therefore a shorter-term goal, is to generate mutant pluripotent stem cell lines to facilitate studies of the pathophysiology of various human genetic diseases and for use in drug screening. Indeed, many researchers now see disease modelling and drug screening using mutant cell lines as the first and most important goal of stem cell research, and view cell replacement therapy based on hES or hiPS cells as an extremely challenging and distant goal. Here, the advantages and limitations of the current strategies and the most important achievements in these two streams of pluripotent stem cell research are reviewed.


Human embryonic stem cells Induced pluripotent stem cells Genetic diseases Disease modeling Stem cell-based therapies 


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Petr Dvořák
    • 1
    • 2
  1. 1.Department of Biology, Faculty of MedicineMasaryk UniversityBrnoCzech Republicand
  2. 2.Department of Molecular Embryology, Institute of Experimental MedicineAcademy of Sciences of the Czech RepublicBrnoCzech Republic

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