Rare diseases: what's next?

摘要

Rare diseases are life-threatening or chronically debilitating diseases with a prevalence lower than one per 2000 in the European Community or one per 1250 in the USA. Only a few of the 5000 recognised rare diseases have a prevalence close to those limits, and most of them are much rarer, such as muscular dystrophy, or haemophilia, and others are so uncommon that they are defined as being ultra-rare, such as Hutchinson-Gilford syndrome (progeria), or Whipple's disease.