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The future of model organisms in human disease research

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NATURE REVIEWS GENETICS
卷 12, 期 8, 页码 575-582

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NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3047

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资金

  1. Medical Research Council (MRC) Clinical Sciences Centre
  2. Imperial British Heart Foundation Centre of Excellence
  3. European Union EURATRANS consortium
  4. Leducq Cardianet Transatlantic Network of Excellence
  5. US National Institutes of Health (NIH) [GM076468, GM45146]
  6. MRC [MC_U120061454] Funding Source: UKRI
  7. Medical Research Council [MC_U120061454] Funding Source: researchfish

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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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