Definition of Rare Disease

In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases. Short excerpt from the Introduction chapter: “The beginnings and endings of all human undertakings are untidy.”—John Galsworthy In the U.S., Public Law 107-280, the Rare Diseases Act of 2002 states: “Rare diseases and disorders are those which affect small patient populations, typically populations smaller than 200,000 individuals in the United States” [1]. Since the population of the U.S. is about 314 million (in 2013), this comes to about one case for every 1570 persons. This is not too far from the definition recommended by the European Commission on Public Health; fewer than one in 2000 people. It is important to have numeric criteria for the rare diseases, because special laws exist in the U.S. and in Europe to stimulate research and drug development for diseases that meet the criteria for being “rare” (see Section 14.2). Unfortunately, it is very difficult to know, with any certainty, the specific prevalence or incidence of any of the rare diseases (see Glossary items, Prevalence, Incidence). A certain percentage of the cases will go unreported, or undiagnosed, or misdiagnosed. Though it is impossible to obtain accurate and up-to-date prevalence data on every rare disease, in t...
Source: Specified Life - Category: Pathologists Tags: common diseases definition of rare diseases genetic disease organizations for rare diseases orphan diseases orphan drugs rare disease organizations rare disease research Source Type: blogs