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Human genetics as a foundation for innovative drug development

New technology has transformed human genetics. It now provides perhaps the single best opportunity to innovate and improve clinical success rates in drug development.

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Figure 1: Common versus rare genetic variants.

References

  1. Lewis, E.B. Nature 276, 565–570 (1978).

    Article  CAS  Google Scholar 

  2. Fishman, M.C. & Porter, J.A. Nature 437, 491–493 (2005).

    Article  CAS  Google Scholar 

  3. Paul, S.M. et al. Nat. Rev. Drug Discov. 9, 203–214 (2010).

    Article  CAS  Google Scholar 

  4. Laurie, S.A. & Goss, G.D. J. Clin. Oncol. 31, 1061–1069 (2013).

    Article  CAS  Google Scholar 

  5. Wellcome Trust Case Control Consortium. Nature 447, 661–678 (2007).

  6. Gudmundsson, J. et al. Sci. Transl. Med. 2, 62ra92 (2010).

    Article  CAS  Google Scholar 

  7. Kannel, W.B. & Castelli, W.P. Med. Times 100, 173–175 (1972).

    CAS  PubMed  Google Scholar 

  8. Gordon, T., Castelli, W.P., Hjortland, M.C., Kannel, W.B. & Dawber, T.R. Am. J. Med. 62, 707–714 (1977).

    Article  CAS  Google Scholar 

  9. The AIM-HIGH Investigators. N. Engl. J. Med. 365, 2255–2267 (2011).

  10. Barter, P.J. et al. N. Engl. J. Med. 357, 2109–2122 (2007).

    Article  CAS  Google Scholar 

  11. Schwartz, G.G. et al. N. Engl. J. Med. 367, 2089–2099 (2012).

    Article  CAS  Google Scholar 

  12. Voight, B.F. et al. Lancet 380, 572–580 (2012).

    Article  CAS  Google Scholar 

  13. Cohen, J. et al. Nat. Genet. 37, 161–165 (2005).

    Article  CAS  Google Scholar 

  14. Zhao, Z. et al. Am. J. Hum. Genet. 79, 514–523 (2006).

    Article  CAS  Google Scholar 

  15. Hooper, A.J., Marais, A.D., Tanyanyiwa, D.M. & Burnett, J.R. Atherosclerosis 193, 445–448 (2007).

    Article  CAS  Google Scholar 

  16. Lambert, G., Sjouke, B., Choque, B., Kastelein, J.J. & Hovingh, G.K. J. Lipid Res. 53, 2515–2524 (2012).

    Article  CAS  Google Scholar 

  17. Haddad, L. et al. J. Lipid Res. 40, 1113–1122 (1999).

    CAS  PubMed  Google Scholar 

  18. Abifadel, M. et al. Nat. Genet. 34, 154–156 (2003).

    Article  CAS  Google Scholar 

  19. Cohen, J.C., Boerwinkle, E., Mosley, T.H. Jr. & Hobbs, H.H. N. Engl. J. Med. 354, 1264–1272 (2006).

    Article  CAS  Google Scholar 

  20. Benn, M., Nordestgaard, B.G., Grande, P., Schnohr, P. & Tybjaerg-Hansen, A. J. Am. Coll. Cardiol. 55, 2833–2842 (2010).

    Article  CAS  Google Scholar 

  21. J. Am. Med. Assoc. 251, 351–364 (1984).

  22. J. Am. Med. Assoc. 251, 365–374 (1984).

  23. Stamler, J., Wentworth, D. & Neaton, J.D. J. Am. Med. Assoc. 256, 2823–2828 (1986).

    Article  CAS  Google Scholar 

  24. Pekkanen, J. et al. N. Engl. J. Med. 322, 1700–1707 (1990).

    Article  CAS  Google Scholar 

  25. Wong, N.D., Wilson, P.W. & Kannel, W.B. Ann. Intern. Med. 115, 687–693 (1991).

    Article  CAS  Google Scholar 

  26. Rossouw, J.E., Lewis, B. & Rifkind, B.M. N. Engl. J. Med. 323, 1112–1119 (1990).

    Article  CAS  Google Scholar 

  27. Wilson, P.W. et al. Circulation 97, 1837–1847 (1998).

    Article  CAS  Google Scholar 

  28. Lloyd-Jones, D.M., Larson, M.G., Beiser, A. & Levy, D. Lancet 353, 89–92 (1999).

    Article  CAS  Google Scholar 

  29. Grundy, S.M. et al. Circulation 110, 227–239 (2004).

    Article  Google Scholar 

  30. Kolodgie, F.D. et al. Heart 90, 1385–1391 (2004).

    Article  CAS  Google Scholar 

  31. LaRosa, J.C. et al. N. Engl. J. Med. 352, 1425–1435 (2005).

    Article  CAS  Google Scholar 

  32. Cannon, C.P., Steinberg, B.A., Murphy, S.A., Mega, J.L. & Braunwald, E. J. Am. Coll. Cardiol. 48, 438–445 (2006).

    Article  CAS  Google Scholar 

  33. Cholesterol Treatment Trialists', (CTT) Collaboration et al. Lancet 376, 1670–1681 (2010).

  34. Rashid, S. et al. Proc. Natl. Acad. Sci. USA 102, 5374–5379 (2005).

    Article  CAS  Google Scholar 

  35. Qian, Y.W. et al. J. Lipid Res. 48, 1488–1498 (2007).

    Article  CAS  Google Scholar 

  36. Goldstein, J.L. & Brown, M.S. Arterioscler. Thromb. Vasc. Biol. 29, 431–438 (2009).

    Article  CAS  Google Scholar 

  37. Horton, J.D., Cohen, J.C. & Hobbs, H.H. J. Lipid Res. 50 (suppl.), S172–S177 (2009).

    Article  Google Scholar 

  38. Steinberg, D. & Witztum, J.L. Proc. Natl. Acad. Sci. USA 106, 9546–9547 (2009).

    Article  CAS  Google Scholar 

  39. Dhankhar, A., Evers, M. & Moller, M. in McKinsey Perspectives on Drug and Device R&D, 2–11 (2012).

    Google Scholar 

  40. Holm, H. et al. Nat. Genet. 43, 316–320 (2011).

    Article  CAS  Google Scholar 

Download references

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Correspondence to Alexander Kamb.

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Kamb, A., Harper, S. & Stefansson, K. Human genetics as a foundation for innovative drug development. Nat Biotechnol 31, 975–978 (2013). https://doi.org/10.1038/nbt.2732

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