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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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.
The authors declare no competing financial interests.
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Aitman, T., Boone, C., Churchill, G. et al. The future of model organisms in human disease research. Nat Rev Genet 12, 575–582 (2011). https://doi.org/10.1038/nrg3047
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