I Herbert Scheinberg

BMJ 2009; 338 doi: (Published 23 June 2009) Cite this as: BMJ 2009;338:b2429
  1. Geoff Watts

    Genetic disease expert who advanced the diagnosis and treatment of Wilson’s disease

    That Dr I Herbert Scheinberg is the name most often associated with the diagnosis of Wilson’s disease is in part a product of the misfortune of the two scientists on whose previous work he was building. In 1948 the Swedish chemists C G Holmberg and C B Laurell had isolated ceruloplasmin, a copper carrying protein found in human serum. Because Wilson’s disease is caused by an accumulation of copper in the body, they suspected that this protein would be low in the serum of patients with the disorder. However, in samples from the one patient available to them, the prediction could not be confirmed. As it later turned out, this was hardly surprising; the patient in question was found to have been misdiagnosed.

    With the discipline ripe for further study, Scheinberg and his colleague Dr David Gitlin, both of Harvard Medical School, published a paper in Science in 1952 …

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