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Keynote _ David Weatherall


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Keynote _ David Weatherall

  1. 1. Keynote: Is there a case for cases? D.J. Weatherall Weatherall Institute of Molecular Medicine, University of Oxford
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  4. 6. Structure and Expression of the Globin Genes Chromosome 16 Chromosome 11        EMBRYO FETUS ADULT    Haem HS-40 -40 -20 0 20 40 -40 -20 0 20 40 60  -LCR 1 2 3  HS 5 4 Cis acting sequences
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  6. 11.  Thalassaemia and Mental Retardation <ul><li>The little boy in Chester </li></ul><ul><li>A soldier in Denver </li></ul><ul><li>Case report </li></ul><ul><li>ATR-16 and ATR-X </li></ul><ul><li>1994 Isolation of PKD gene </li></ul><ul><li>Subtelomeric relations occur commonly in mental retardation </li></ul><ul><li>1995 ATR-X gene defined </li></ul><ul><li>1995 Role in development partly defined </li></ul>
  7. 17. <ul><li>“ Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of Nature by careful investigation of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or applicable nature is hardly perceived unless we are deprived of them, or they become deranged in some way.” </li></ul><ul><li>  </li></ul><ul><li>William Harvey (1657) </li></ul><ul><li>  </li></ul><ul><li>Translation into English by R Willis: The Works of William Harvey Sydenham Society (1848) page 616 </li></ul>