Keynote: Is there a case for cases?

D.J. WeatherallWeatherall Institute of Molecular

Medicine, University of Oxford

2

3

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

-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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