A film made by the Swedish National Agency for Rare Diseases

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

Est. 300m

people globally


of genetic origin


affect children

Affect between
6-8% of the


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.



  • 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.


>More information on rare diseases