New names for old disciplines.
Since the completion of the human genome map, genomics, proteomics and pharmacogenomics have become popular headings. In this review some 40 years of development in research and laboratory diagnosis of inborn errors of metabolism are summarized. It is shown that collaborative approaches of clinicians, geneticists, pathologists, biochemists and molecular biologists have contributed significantly to the (prenatal) diagnosis, genetic counselling and prevention of simple gene disorders, and in some instances to successful treatment. DNA technology widens the range to predictive risk testing for multifactorial disorders manifesting in adulthood. This offers new perspectives for potential patients and their close relatives, but also poses new psychosocial and ethical problems. Despite high expectations of new technologies in the development of new medicines for multifactorial disorders, examples of previous studies on the molecular etiology and pathogenesis of monogenic diseases indicate that a long way is ahead of us. Also the treatment of rare disorders and equal access to cure and care in the Third World need great attention.
Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands. galjaard@algm.azr.nl
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D004247:DNA / Q000032:analysis / Q000737:chemistry; D008040:Genetic Linkage; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D040242:Risk Reduction Behavior
D004247:DNA