Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News and Commentary
  • Published:

Sudden impact? The human genome sequence and the pace of gene discovery in complex diseases

The Pharmacogenomics Journal volume 1, pages 9–11 (2001)Cite this article

With the flurry of publicity on the success of the nearly-finished human genome project, the public can be forgiven for expecting major medical breakthroughs in the very near future. As many have commented, the genome sequence only marks the beginning of our understanding. The breakthroughs to expect in the immediate future will be scientific rather than medical, helping our understanding of human biology and diseases. The project is expected to catalyse the cloning of complex disease susceptibility genes, drive forward the developing field of pharmacogenomics, and instigate a new era of pharmaceutical drug discovery based on the rapid discovery of new peptides and proteins which are potential drug targets.

Major advantages of the human genome project for the complex disease geneticist are that it will allow the structural, (and consequently functional) characterisation of even the most elusive of human genes. Currently, almost nothing is known about the biological function of the majority of genes, and the genome project will help reveal whole new pathways of relevance to areas such as brain development, appetite, and cardiovascular physiology. Equally important is the ability to catalogue millions of polymorphic DNA sequence variants, many thousands of which will have consequences for human disease. The perception of potential for genomics is illustrated by the change from the idealistic early days at the beginning of the 1990s, when human genome analysis was a largely academic pursuit, to the present day, where many billions of research and development dollars are dedicated to its study. Of course the human genome project will not find genes for complex disorders for us, but in the short term, there is no doubt that the human genome project will accelerate the process of discovery, simply by making the practical effort substantially easier.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

References

  1. Riley BP, McGuffin P . Linkage and associated studies of schizophrenia Am J Med Genet 2000 9: 23–44

    Article  Google Scholar 

  2. Baron M . Genetics of schizophrenia and the new millennium: progress and pitfalls Am J Hum Genet 2001 68: 299–312

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Goldstein DB, Schlotterer C . Microsatellites: Evolution and Applications Oxford University Press 1999

    Google Scholar 

  4. Mullikin JC, Hunt SE, Cole CG, Mortimore BJ, Rice CM, Gerlach JH et al . An SNP map of human chromosome 22 Nature 2000 407: 516–520

    Article  CAS  PubMed  Google Scholar 

  5. Buetow KH, Edmonson M, MacDonald R, Clifford R, Yip P, Gerlach JH et al . High-throughput development and characterization of a genome-wide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry Proc Natl Acad Sci U S A 2001 98: 581–584

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. The International SNP Working Group . A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms Nature 2001 409: 928–934

    Article  Google Scholar 

  7. Collins A, Lonjou C, Morton NE . Genetic epidemiology of single-nucleotide polymorphisms Proc Natl Acad Sci U S A 1999 96: 15173–15177

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Templeton AR, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF . Cladistic structure within the human lipoprotein lipase gene and its implications for phenotypic association studies Genetics 2000 156: 1259–1275

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Hoehe MR, Kopke K, Wendel B, Rohde K, Flachmeier C, Gerlach JH et al . Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptor gene variation with substance dependence Hum Mol Genet 2000 9: 2895–2908

    Article  CAS  PubMed  Google Scholar 

  10. Li T, Ball D, Zhao J, Murray RM, Liu X, Gerlach JH et al . Family-based linkage disequilibrium mapping using SNP marker haplotypes: application to a potential locus for schizophrenia at chromosome 22q11 Mol Psychiatry 2000 5: 77–84

    Article  CAS  PubMed  Google Scholar 

  11. Kruglyak L, Nickerson DA . Variation is the spice of life Nat Genet 2001 27: 234–236

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Senior Lecturer in Molecular Genetics, The Institute of Psychiatry, London, UK

    D A Collier

Authors
  1. D A Collier
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to D A Collier.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Collier, D. Sudden impact? The human genome sequence and the pace of gene discovery in complex diseases. Pharmacogenomics J 1, 9–11 (2001). https://doi.org/10.1038/sj.tpj.6500014

Download citation

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/sj.tpj.6500014

Search

Advanced search

Quick links