The importance of rare diseases: from the gene to society

  title={The importance of rare diseases: from the gene to society},
  author={John A. Dodge and T T Chigladze and Jean Donadieu and Zachi Grossman and Feliciano J. Ramos and Angelo Serlicorni and Liesbeth Siderius and Constantinos J. Stefanidis and Velibor Tasic and Arunas Valiulis and Jolanta Wierzba},
  journal={Archives of Disease in Childhood},
  pages={791 - 792}
What exactly do we mean by a rare disease (RD), and why are they important for paediatricians? The definition used for public health purposes in Europe is that an RD is one which affects fewer than one citizen in 2000; in the USA it is fewer than one in 1250.1 There are estimated to be between 6000 and 8000 known RDs in the world, many of which are predominantly paediatric disorders. About 75% of the diseases meeting the criteria for RD affect children, and about 30% of all patients with RDs… 
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