In the EU a rare disease is defined as one with a prevalence of 1 in 2,000 people, and in the US, as affecting fewer than 200,000 people (equivalent to 1 in 1,600 people as of 2013 population figures).
In this report, we will focus on rare diseases defined as per above. By these definitions, there are between 6,000 and 8,000 recognised rare diseases, most of them arising from genetic origin and being chronic or life-threatening.
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