BMJ 2000;321:1117-1120 ( 4 November )

Clinical review

Science, medicine, and the future

Single gene disorders or complex traits: lessons from the thalassaemias and other monogenic diseases

Based on a presentation from the Millennium Festival of Medicine

David J Weatherall. 

Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS

The first 150 words of the full text of this article appear below.

As a result of the revolution in the biological sciences following the development of recombinant DNA technology and the sequencing of most of the human genome, the role of genetics in the pathogenesis of human disease now dominates biomedical research. There is every sign that the rapidly evolving technology of the post genome era will unravel the function of the human genome and explain how the 50 000 to 100 000 genes interact with one another and the environment to make us what we are.

The central question for the medical sciences is the extent to which it will be possible to relate events at the molecular level with the clinical findings or phenotypes of patients with particular diseases. This problem will permeate every aspect of medical research and practice in the future. It will dominate predictive genetics and genetic counselling. It will also be of major importance for clinical decision making . . . [Full text of this article]

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