Abstract

As the 20th century began, few effective therapies existed. This soon changed with major therapeutic discoveries turning the century into what has been called the golden age of therapeutics.1 The emphasis of most of these developments was on medicines for common disorders as they presented the greatest need. However, it also allowed pharmaceutical manufacturers to produce blockbuster drugs that provided a large return on investment. Rare disorders were overlooked because most are genetic in origin and scientific knowledge was lacking, making it difficult to find treatments. The first genetic disorder with a therapy was phenylketonuria. The biochemist who proposed the first successful treatment in the 1950s was actively discouraged as phenylketonuria was genetic and ‘incurable’.2 Another reason was an absence of incentives to invest in developing medicines for which the return was limited, given the small numbers of potential patients. This changed from 1983 as several countries began introducing orphan drug policies, with Canada being a notable exception. As the millennium changed, some drugs for rare disorders were available, but the sequencing of the human genome in the early 2000s provided scientific knowledge to develop many more. The new therapies are often costly because they require millions, even billions, of dollars and years to develop, test and satisfy regulatory standards. …