Coming Together to Combat Rare Diseases
(2012; 2 pages)


The European Commission is increasingly supporting collaborative initiatives focused on research into treatments and drugs for rare diseases, but lack of funding continues to be an issue. Gary Humphreys reports.

Estimates vary as to exactly how many rare diseases there are, partly because countries define rare diseases differently. “In European Union (EU) countries, any disease affecting fewer than 5 people in 10 000 is considered rare”...

Most patients suffer from diseases affecting 1 in 10 000 or less. According to the European Medicines Agency, there are between 5000 and 8000 distinct rare diseases in the EU, affecting between 27 and 36 million people. Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15 000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people...

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