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The future of model organisms in human disease research

Nature Reviews Genetics volume 12, pages 575582 (2011) | Download Citation

Abstract

Model organisms have played a huge part in the history of studies of human genetic disease, both in identifying disease genes and characterizing their normal and abnormal functions. But is the importance of model organisms diminishing? The direct discovery of disease genes and variants in humans has been revolutionized, first by genome-wide association studies and now by whole-genome sequencing. Not only is it now much easier to directly identify potential disease genes in humans, but the genetic architecture that is being revealed in many cases is hard to replicate in model organisms. Furthermore, disease modelling can be done with increasing effectiveness using human cells. Where does this leave non-human models of disease?

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Acknowledgements

T.J.A. acknowledges funding from the Medical Research Council (MRC) Clinical Sciences Centre, the Imperial British Heart Foundation Centre of Excellence, the European Union EURATRANS consortium and the Leducq Cardianet Transatlantic Network of Excellence. C.B. is grateful for comments provided by B. Andrews. G.A.C. and T.F.C.M. both acknowledge funding from the US National Institutes of Health (NIH), grant numbers GM076468 and GM45146, respectively.

Author information

Affiliations

  1. Timothy J. Aitman is at the Physiological Genomics and Medicine Group, Medical Research Council Clinical Sciences Centre, Imperial College, Ducane Road, London W12 0NN, UK.

    • Timothy J. Aitman
  2. Charles Boone is at the Banting and Best Department of Medical Research and the Department of Molecular Genetics, Donnelly Centre, University of Toronto, 160 College Street, Toronto, Ontario M5S 3E1, Canada.

    • Charles Boone
  3. Gary A. Churchill is at The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.

    • Gary A. Churchill
  4. Michael O. Hengartner is at the Institute of Molecular Life Sciences, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland.

    • Michael O. Hengartner
  5. Trudy F. C. Mackay is at the Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695, USA.

    • Trudy F. C. Mackay
  6. Derek L. Stemple is at the Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

    • Derek L. Stemple

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Competing interests

The authors declare no competing financial interests.

Corresponding authors

Correspondence to Timothy J. Aitman or Charles Boone or Gary A. Churchill or Michael O. Hengartner or Trudy F. C. Mackay or Derek L. Stemple.

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https://doi.org/10.1038/nrg3047

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