keynote _ david weatherall
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Keynote: Is there a case for cases?
D.J. WeatherallWeatherall Institute of Molecular
Medicine, University of Oxford
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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
-LCR123HS 54
Cis acting sequences
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Thalassaemia and Mental Retardation
1973 The little boy in Chester1978 A soldier in Denver1981 Case report1989 ATR-16 and ATR-X1994 Isolation of PKD gene1995 Subtelomeric relations occur commonly
in mental retardation1995 ATR-X gene defined1995 Role in development partly defined
“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.”
William Harvey (1657) Translation into English by R Willis: The Works of William Harvey
Sydenham Society (1848) page 616
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