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The deciphering of the human genome sequence, the DNA instruction book that makes us not only uniquely human but also unique as individuals, has provided unparalleled opportunities for identifying the relationship of genetic variation to health and disease. Yet as we move from single-gene diseases, in which a single misspelled base-pair can lead to such devastating conditions as sickle cell disease or Hutchinson-Gilford progeria syndrome, to complex diseases involving interactions among many interacting genes of small effect and many potential environmental modifiers, we need to develop tools to unravel the complexity of these interacting risk factors. Even in single-gene diseases, the frequent inter-individual variability in disease manifestations and course suggests the presence of modifiers for these presumably simple diseases, whether due to differing genetic backgrounds or differing environmental exposures, that are only beginning to be identified .
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Dr. Francis S. Collins
National Human Genome Research Institute
31 Center Drive, Building 31, Room 4B09
Bethesda, MD 20892-2152 (USA)
Tel. +1 301 496 0844, Fax +1 301 402 0837, E-Mail FSCollins@mail.nih.gov
Published online: February 2, 2007
Number of Print Pages : 4
Number of Figures : 0, Number of Tables : 0, Number of References : 43
Human Heredity (International Journal of Human and Medical Genetics)
Vol. 63, No. 2, Year 2007 (Cover Date: February 2007)
Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (print), 1423–0062 (Online)
For additional information: http://www.karger.com/HHE
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