‘A disease affecting a small to very small population of patients (typically fewer than 1 in 2,000 individuals)’


Est. 350m

people globally


80%

of genetic origin


50%

affect children

Affect between
6-8% of the
population


6000+

rare diseases

Each individual disease may itself be rare, but the challenges facing people living with rare diseases are common across diseases, and across borders.

 

Rare

  • Patients and experts are few and geographically scattered
  • Little information about the diseases, knowledge and good practices are limited
  • Little and fragmented scientific research as funding and resources are scarce
  • Slow, or often inaccurate diagnosis
  • Isolation: for patients, families, their health and social care professionals, their researchers
  • Only 5% of rare diseases have adequate treatments

Highly Complex

  • 80% of rare diseases are genetic

Highly Disabling

  • Limit life expectancy
  • Cause severe and complex impairments and disability
  • No, or little, autonomy for the patients and their families
  • Profound social and economic consequences

 

The combined rare, complex and disabling nature of most rare diseases leads to serious unmet health and social needs for people living with rare diseases and their families’ well-being, autonomy and fundamental human rights.

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>More information on rare diseases