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Cambridge MedChem Consulting

Rare Diseases

There are between 5,000 and 8,000 rare diseases, and around 5 new rare diseases are described in the literature each week. There is no internationally recognised definition of a rare disease but they are defined by the European Union as one that affects less than 5 in 10,000 of the general population. Most rare diseases have a genetic component and if apparent in early life a significant number die before their 5th birthday. Reportedly only around 400 rare diseases have therapies and so I was interested to hear about The UK Strategy for Rare Diseases, if you have time it is an interesting read. The focus is more on the clinical side but the recognition of the need for robust epidemiological analysis and coordination of research activities of the major research funders is highlighted.

Useful sites:
Rare Diseases UK
National Organisation for Rare Diseases
Global Genes