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Special Communication |

The Anatomy of the Human Genome:  A Neo-Vesalian Basis for Medicine in the 21st Century

Victor A. McKusick, MD
JAMA. 2001;286(18):2289-2295. doi:10.1001/jama.286.18.2289.
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Since 1956, the anatomy of the human genome has been described on the basis of chromosome studies, gene mapping, and DNA sequencing. The gross anatomy of Andreas Vesalius, published in 1543, played a leading role in the development of modern medicine. The objective of this article is to show that knowledge of genomic anatomy is having a comparably strong and pervasive influence on all of medicine. The research revealing human genome anatomy is reviewed. The insight provided by genome anatomy has brought about shifts of focus, both in research and in the clinic, eg, from genomics to proteomic and from the individually rare, single-gene disorders to common disorders. Genomic anatomy permits medicine to become more predictive and preventive. At the same time, diagnosis and treatment are rendered more sensitive, specific, effective, and safe. Hazards in misuse and misunderstanding of the information exist. Education of both the public and health professionals is vital if the full benefits of neo-Vesalian medicine are to be realized.

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Figure 1. Progress in Mapping of Genes to Specific Chromosomes Through the Early Stages of the Human Genome Project
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Figure 2. Growth of Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders (MIM)12 and Its Online Version (OMIM)
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Each entry is an essay on a particular phenotype (usually a disorder) or gene, with extensive bibliographic references and, in the case of OMIM, links to many other sources of information.
Figure 3. Pace of Disease Gene Discovery and Molecular Characterization of Clinical Disorders, 1981-2000
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Reprinted with permission from Peltonen L, McKusick VA. Dissecting human disease in the post-genomic era. Science. 2001;291:1224-1229.53 A, The number of disease genes discovered by the end of 2000 was 1112, including both germline and neoplasia-related somatic mutations. This number does not include all the genes identified as translocation gene-fusion partners in neoplastic disorders. Numbers in parentheses indicate genes with disease-related polymorphic alleles (susceptibility genes). B, The number of clinical disorders characterized by the end of 2000 was 1430. This number does not include the many neoplastic disorders caused by translocation-related fusion genes.

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