The scale of rare diseases


  • One in 17 people will suffer from a rare disease at some point in their lives
  • In the UK alone that equates to approximately 3.5 million people
  • Only a quarter of rare diseases have had their molecular basis defined, meaning many risk being undiagnosed and therefore untreated
  • There are at least 6,000 rare diseases
  • 75 per cent of rare diseases affect children
  • Many rare diseases (approximately 80 per cent) are of genetic origin
  • 30 per cent of rare disease patients dies before their fifth birthday