Pluripotent stem cells in disease modelling and drug discovery

Nat Rev Mol Cell Biol. 2016 Mar;17(3):170-82. doi: 10.1038/nrm.2015.27. Epub 2016 Jan 28.


Experimental modelling of human disorders enables the definition of the cellular and molecular mechanisms underlying diseases and the development of therapies for treating them. The availability of human pluripotent stem cells (PSCs), which are capable of self-renewal and have the potential to differentiate into virtually any cell type, can now help to overcome the limitations of animal models for certain disorders. The ability to model human diseases using cultured PSCs has revolutionized the ways in which we study monogenic, complex and epigenetic disorders, as well as early- and late-onset diseases. Several strategies are used to generate such disease models using either embryonic stem cells (ES cells) or patient-specific induced PSCs (iPSCs), creating new possibilities for the establishment of models and their use in drug screening.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Allografts
  • Animals
  • Autografts
  • Disease Models, Animal
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / metabolism
  • Genetic Diseases, Inborn* / therapy
  • Human Embryonic Stem Cells / metabolism*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Stem Cell Transplantation / methods*