Human monogenic disorders - a source of novel drug targets

Nat Rev Genet. 2006 Apr;7(4):249-60. doi: 10.1038/nrg1828.


The decrease in new drug applications and approvals over the past several years results from an underlying crisis in drug target identification and validation. Model organisms are being used to address this problem, in combination with novel approaches such as the International HapMap Project. What has been underappreciated is that discovery of new drug targets can also be revived by traditional Mendelian genetics. A large fraction of the human gene repertoire remains phenotypically uncharacterized, and is likely to encode many unanticipated and novel phenotypes that will be of interest to pharmaceutical and biotechnological drug developers.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Drug Design*
  • Genetic Diseases, Inborn / drug therapy*
  • Genetic Diseases, Inborn / genetics*
  • Genome, Human*
  • Human Genome Project
  • Humans
  • Phenotype