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The molecular dissection of human diseases after the human genome project

The Pharmacogenomics Journal volume 1, pages 5–6 (2001)Cite this article

The draft sequence of the human genome is now available on the Web and the anatomy of the human genome will soon be understood in great detail. When all the human genes are truly known, scientists will have produced a Periodic Table of Life containing the complete list and structure of all genes, and provided us with a collection of high precision tools with which to study the details of human development and disease processes. The complete genome sequence of human and many other species provides a new starting point for understanding our basic genetic make-up and how variations in genetic instructions result in human disease or other variants of human phenotypes.

With these tools soon at hand, the biomedical research community is facing sweeping changes in its methods and strategies (Table 1). Here we address some major challenges and opportunities in our continued efforts to dissect the molecular basis of human disease.

Table 1 Paradigm shifts in biomedical research
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  1. Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA, USA

    L Peltonen

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  1. L Peltonen
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Correspondence to L Peltonen.

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Peltonen, L. The molecular dissection of human diseases after the human genome project. Pharmacogenomics J 1, 5–6 (2001). https://doi.org/10.1038/sj.tpj.6500015

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