Abstract
The story of rare diseases is a story of people. Often very young, and usually with little hope of treatment, it is often a desperately sad and tragic story, but increasingly a story of hope. Statistics are inescapable when discussing the subject: small numbers of patients in huge populations, the massively disproportionate contribution to pediatric mortality, and the necessarily high prices for rare drugs. Almost every speaker at the SMi's Fourth Orphan Drugs and Rare Diseases conference provided figures that illustrated just how different this area is to the macro-world of the blockbuster drug.
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