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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.

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

    D A Collier

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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

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