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The conquest of Wilson's disease.

When (Samuel Alexander) Kinnier Wilson described a new disease involving the liver and the lenticular nucleus of the brain in 1912, he was unable to recommend any form of treatment, although that remained his life long ambition (Wilson, 1912; Fig. 1). Until the underlying cause of the disease was understood, this inevitably remained a somewhat forlorn hope. A role for copper, as a possible pathogenic agent, was suggested the year after Wilson's original publication when Rumpel (1913) reported finding excess copper in the liver of a patient who had died of this newly described disease. But this observation was not followed until, in 1948, (John) Cumings (1948) demonstrated that copper is present in excess both in the brain and liver of patients with Wilson's disease. This observation led Cumings to suggest that treatment with the newly developed chelating agent British antilewisite (Dimercaprol) might arrest the progress of the disease. 



Figure 1 
Portrait of Samuel Alexander Kinnier Wilson (1878–1937).



It is generally held, not unreasonably, that all major advances in therapeutics are made by the multi-national pharmaceutical companies. There are, however, a few exceptions to this rule as illustrated in ‘ Orphan Drugs ’ by Fred Karch (1982). Accounts of seven attempts to introduce new drugs, discovered by individual research workers, are presented here. There is, therefore, still a role for the individual researcher to make significant advances, although these are likely to remain confined to the treatment of rare diseases. The large pharmaceutical companies will, by the very nature of free market economics, confine their research and development programmes to common diseases offering the prospect of large profits. The cost of introducing a new drug is now so large—an average figure as high as 800 million dollars has recently been suggested—that no other course is possible.

Wilson's disease illustrates this state …