‘A disease affecting a small to very small population of patients (typically fewer than 1 in 2,000 individuals)’
of genetic origin
6-8% of the
Each individual disease may itself be rare, but the challenges facing people living with rare diseases are common across diseases, and across borders.
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.