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HOME > Therapy Areas > Rare Diseases

A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population.1


To date, between 6000 and 8000 rare diseases have been discovered and new diseases are regularly described in medical literature.  Approximately 80% of rare diseases are of genetic origin. Despite being described as ‘rare’, collectively rare diseases affect the lives of around 3 million people in the UK.2


Only 5% of rare diseases have a licensed treatment3


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


Chiesi are industry pioneers in regenerative medicine, with the first-ever stem-cell-based therapy approved in the EU4 and the first to receive a positive NICE recommendation in England5  


The UK Rare Disease team will strive to work with patient organisations, clinicians and the wider healthcare system to help create a brighter future for patients with Rare Diseases. 



  1. What is a rare disease? https://www.raredisease.org.uk/what-is-a-rare-disease/ Access date December 2019
  2. Department of Health and Social Care - The UK Strategy for Rare Diseases. 2019 update to the Implementation Plan for England https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/781472/2019-update-to-the-rare-diseases-implementation-plan-for-england.pdf Access date December 2019
  3. Five essential facts about rare diseases https://www.abpi.org.uk/publications/rare-diseases/ Access date December 2019
  4. First stem-cell therapy recommended for approval in EU. EMA/786996/2014. 2014. Available at: http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/news/2014/12/news_detail_002239.jsp&mid=WC0b01ac058004d5c1. Access date: December 2019
  5. Holoclar for treating limbal cell deficiency after eye burns. Technology Appraisal Guidance 467. Available at https://www.nice.org.uk/guidance/ta467. Access date: December 2019


UK-CHI-2000726  December 2020