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1 results

  • Chapter 6 - Huntington's disease

  • Nicholas Wood
  • Book:
    Neurogenetics
    Published online:
    05 May 2012
    Print publication:
    12 April 2012, pp 64-82

  • Summary

    The future for genetic medicine is bright. Soon we will know much more about human genetic variation, genomic control, and even how we got to the top of the evolutionary tree. The 3.08 billion base pairs (bp) of Homo sapiens DNA have now been sequenced and this ranks with the highest achievements of humans to date. The assignment of a mutation in a gene causing a human disease is the first step in genetic variation. One human disease area for which there is rising hope of early success is the field of pharmacogenetics. The ENCODE project is endeavoring to identify the functional elements in the genome. Advanced draft or complete sequences are now available for five mammals: human, mouse, rat, chimpanzee and dog. Neurogenetics is still in its infancy but it is now part of the core curriculum of most residency training schemes.