1 in 17 People* will be affected by a rare disease at some point in their lives

1 in 17 people* will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK* and 30 million people across Europe (1). 

The majority of rare diseases currently have no effective treatment (1).

8 out of 10 rare diseases (3) have a genetic cause and 99% of genetic conditions are classed as rare (4). Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.

On average, it takes over four years (5) to receive an accurate diagnosis of a rare disease. 

Rare diseases include rare cancers such as childhood cancers and some other well known conditions, such as cystic fibrosis and Huntington’s disease.

If you would like more information on specific rare diseases, please visit Orphanet, the portal for rare diseases and orphan drugs, or check out the supporters of the Rare Disease UK campaign for relevant patient organisations.

References

  1. European Commission – European Commission. (2020). Rare diseases. [online] Available at: https://ec.europa.eu/info/research-and-innovation/research-area/health/rare-diseases_en [Accessed 27 Jan. 2020].
  2. Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0
  3. Rare Diseases: understanding this Public Health Priority. [online] Paris: EURORDIS. Available at: https://www.eurordis.org/sites/default/files/publications/princeps_document-EN.pdf [Accessed 27 Jan. 2020].
  4. Inferred from OMIM.org and orpha.net databases. Genetic conditions refers to single gene disorders and chromosomal abnormalities.
  5. Rare Disease UK (2019). Illuminating the Rare Reality. [online] London: Genetic Alliance UK. Available at: https://www.raredisease.org.uk/wp-content/uploads/sites/7/2019/02/Illuminating-the-rare-reality-2019.pdf [Accessed 27 Jan. 2020].

*Extrapolated from source (1)

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