A rare disease is a term used for any disease that affects less than 5 in 10,000 people.


To date, between 6000 and 8000 rare diseases have been discovered and new diseases are regularly described in medical literature1.  Approximately 80% of rare diseases are of genetic origin.


Despite being described as ‘rare’, collectively rare diseases affect the lives of around 2 million people (8% of Australians) in Australia2,3.


Only 5% of rare diseases have a an approved treatment4


Chiesi are committed to finding breakthrough solutions to meet the unmet needs and improve the lives of patients with Rare Diseases.



  1. Five essential facts about rare diseases https://www.abpi.org.uk/publications/rare-diseases/; access date 14 July 2021.
  2. Australian Department of Health https://www.health.gov.au/health-topics/chronic-conditions/what-were-doing-about-chronic-conditions/what-were-doing-about-rare-diseases; accessed 14 July 2021.
  3. Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases. How should we respond? Arch Dis Child 2008;93:1071–74
  4. Kaufmann, P., Pariser, A.R. & Austin, C. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet J Rare Dis 13, 196 (2018).