Rare diseases affect a small number of people compared to the general population.

Did you know there are over 300,000 people in Ireland living with a rare disease1,2? Find out more about rare diseases:

Rare diseases affect 1 in 17 people in Ireland at some stage in their lives and there are over 300,000 people living with a rare disease. 1,2

Did you know?

There are more than 6,000 known rare diseases worldwide1-3

An estimated 300+ million people worldwide are living with a rare disease2-4, with 50% typically occurring in children 4,7

Today, it takes an average of 5 years to get an accurate rare disease diagnosis 5,6,9
In Ireland, 37% of people surveyed who are living with a rare disease waited over 5 years for a diagnosis10

Globally Up to 40% of rare disease patients are misdiagnosed more than once 5,6
In Ireland, nearly 3/4s of those surveyed living with a rare disease saw three or more consultants in different specialities on their journey to a diagnosis.


  1. Boycott KM, et al. Nat Rev Genet 2013;14(10):681-91;
  2. Klimova B, et al. Curr Med Chem 2017;24(29):3153–8;
  3. Bavisetty S, et al. Rare Dis 2013;1:e23579;
  4. Bick D. et al. J Med Genet 2019 Apr 25. Pii: jmedgenet-2019-106111. Doi: 10.1136/jmedgenet-2019-106111. [Epub ahead of print]:
  5. Vandeborne L, et al. Orphanet J Rare Dis 2019;14(1):99;
  6. Muir. E., et al. The Rare Reality 2016;
  7. Kuiper G-A, et al. Orphanet J Rare Dis 2018;13(1):2.
  8. Wakap S. et al. European J of Human Genetics 2019; 28, 165-173;
  9. Black, N., et al. Diagnostic odyssey for rare diseases: exploration of potential indicators 2015
  10. Rare Disease Ireland’s ‘Rare Reality’ Research report  https://rdi.ie/rare-reality/
C-ANPROM/IE/RDG/0058 | February 2024