Rare disease
A rare disease is a
Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays.[1] With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the 2nd rarest known genetic disease being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.[2][3]
No single number has been agreed upon for which a disease is considered rare. Global Genes has estimated that currently approximately 10,000 rare diseases exist globally, with 80% of these having identified genetic origins.[4]
Definition
There is no single, widely accepted definition for rare diseases. Some definitions rely solely on the number of people living with a disease, and other definitions include other factors, such as the existence of adequate treatments or the severity of the disease.
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States",[5] or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures.
In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people.[6]
However, the
The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.[6]
Country | Patient ratio as defined | Patient ratio standardised for comparison |
---|---|---|
Brazil | 65 in 100,000 | 1 in 1,538 |
United States | <200,000 in population[5] | 1 in 1,659 |
Argentina | 1 in 2,000 | 1 in 2,000 |
Australia | 5 in 10,000 | 1 in 2,000 |
Chile | 5 in 10,000 | 1 in 2,000 |
Colombia | 1 in 2,000 | 1 in 2,000 |
European Union | 5 in 10,000 | 1 in 2,000 |
Mexico | 5 in 10,000 | 1 in 2,000 |
Norway | 5 in 10,000 | 1 in 2,000 |
Panama | 1 in 2,000 | 1 in 2,000 |
Singapore | 1 in 2,000 | 1 in 2,000 |
Switzerland | 5 in 10,000 | 1 in 2,000 |
United Kingdom | 1 in 2,000[10] | 1 in 2,000 |
Japan | <50,000 in population[6] | 1 in 2,507 |
Russian Federation | 10 in 100,000 | 1 in 10,000 |
Peru | 1 in 100,000 | 1 in 100,000 |
Relationship to orphan diseases
Because of definitions that include reference to treatment availability, a lack of resources, and severity of the disease, the term orphan disease is frequently used as a synonym for rare disease.[6] But in the United States and the European Union, "orphan diseases" have a distinct legal meaning.
The United States'
The
Prevalence
The
About 80% of rare diseases have a genetic component and only about 400 have therapies, according to Rare Genomics Institute.[15]
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of
Estimating the incidence and prevalence of rare diseases is a complex process due to their wide range of prevalence rates. Rare diseases with higher prevalences can be estimated through a screening panel or patient registries, while diseases which are exceedingly rare may only be able to be estimated through a multi-step nationwide reporting process or case reports. Therefore, the data is often incomplete and complex to amalgamate, compare, and update continually. The Genetic and Rare Diseases Information Center at the National Center for Advancing Translational Sciences curates and compiles rare disease prevalence and incidence from PubMed articles and abstracts using a combination of deep learning algorithms and rare disease experts.[17]
About 40 rare diseases have a far higher prevalence in Finland; these are known collectively as Finnish heritage disease. Similarly, there are rare genetic diseases among the Amish religious communities in the US and among ethnically Jewish people.
Characteristics
A rare disease is defined as one that affects fewer than 200,000 people across a broad range of possible disorders.
Public research and government policy
United States
The
United Kingdom
In 2013, the United Kingdom government published The UK Strategy for Rare Diseases which "aims to ensure no one gets left behind just because they have a rare disease", with 51 recommendations for care and treatment across the UK to be implemented by 2020.[24] Health services in the four constituent countries agreed to adopt implementation plans by 2014, but by October 2016, the Health Service in England had not produced a plan and the all-party parliamentary group on Rare, Genetic and Undiagnosed Conditions produced a report Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases in February 2017.[25] In March 2017 it was announced that NHS England would develop an implementation plan.[26] In January 2018 NHS England published its Implementation Plan for the UK Strategy for Rare Diseases.[27] In January 2021 the Department of Health and Social Care published the UK Rare Diseases Framework, a policy paper which included a commitment that the four nations would develop action plans, working with the rare disease community, and that "where possible, each nation will aim to publish the action plans in 2021".[28] NHS England published England Rare Diseases Action Plan 2022 in February 2022.[29]
International
Organisations around the world are exploring ways of involving people affected by rare diseases in helping shape future research, including using online methods to explore the perspectives of multiple stakeholders.[30]
Public awareness
See also
- National Organization for Rare Disorders (NORD)
- Undiagnosed Diseases Network (UDN)
- Orphanet (Online portal for rare diseases and orphan drugs)
- ICD coding for rare diseases
- List of rare disease organisations
- Orphanet Journal of Rare Diseases (academic journal)
- Rare Disease Day
- Idiopathic disease
- Mystery Diagnosis
- Health care rationing
- Ultra-rare disease
References
- ^ "Rare Diseases". Siope.Eu. 9 June 2009. Archived from the original on 3 December 2012. Retrieved 24 September 2012.
- S2CID 10870492.
- S2CID 195760193.
- ^ "RARE List". globalgenes.org. Global Genes. 15 April 2016. Retrieved 29 January 2023.
- ^ a b "Rare Disease Act of 2002". United States Congress. Retrieved 21 January 2022.
- ^ a b c d "Rare diseases: what are we talking about?". Rare diseases centre – Venetian Region – Italy. Retrieved 21 January 2022.
- ^ "Useful Information on Rare Diseases from an EU Perspective" (PDF). European Commission. Retrieved 19 May 2009.
- PMID 27468531.
- ^ "KEI Briefing Note 2020:4 Selected Government Definitions of Orphan or Rare Diseases". Knowledge Ecology International. Retrieved 12 September 2021.
- ^ "The UK Rare Diseases Framework". GOV.UK. 9 January 2021. Retrieved 12 September 2021.
- ^ Orphan Drug Act §526(a)(2)
- ^ "Rare Diseases: Understanding This Public Health Priority" (PDF). European Organisation for Rare Diseases (EURORDIS). November 2005. Retrieved 16 May 2009.
- ^ "What is a rare disease?". eurordis.org. Retrieved 4 August 2022.
- PMID 31527858.
- ^ Sanfilippo, Ana; Lin, Jimmy (2014). Rare Diseases, Diagnosis, Therapies, and Hope. St. Louis, MO: Rare Genomics Institute. p. 6.
- ^ "02/2009: Rare Cancers on Rare Disease Day". Ecpc-online.org. 28 February 2009. Archived from the original on 26 July 2011. Retrieved 24 September 2012.
- PMID 36855134.
- ^ a b c d "Genetic and Rare Diseases Information Center". National Center for Advancing Translational Sciences, US National Institutes of Health. 2019. Retrieved 12 October 2019.
- S2CID 36072660.
- ^ "President Signs Bills into Law". georgewbush-whitehouse.archives.gov.
- ^ "NORD – National Organization for Rare Disorders, Inc". Archived from the original on 18 June 2008.
- ^ Network, Rare Diseases Clinical Research. "About Us". Rare Diseases Clinical Research Network.
- ^ The UK Strategy for Rare Diseases (PDF). Department of Health. 2013. Retrieved 26 October 2017.
- ^ All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (February 2017). Leaving No One Behind: Why England needs an implementation plan for the UK Strategy for Rare Diseases (PDF). Rare Disease UK. Retrieved 29 January 2018.
- ^ "The Westminster All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions". Genetic Alliance UK. Retrieved 26 October 2017.
- ^ Implementation Plan for the UK Strategy for Rare Diseases (PDF). NHS England. 29 January 2018. Retrieved 29 January 2018.
- ^ "The UK Rare Diseases Framework". GOV.UK. Department of Health and Social Care. 9 January 2021. Retrieved 12 January 2021.
- ^ "England Rare Diseases Action Plan 2022". GOV.UK. Department of Health & Social Care. Retrieved 22 March 2022.
- PMID 33722276.
- ^ "Rare Disease Day". Genetic Alliance. Retrieved 29 February 2024.
chosen because 29 February is the rarest day of the year
- ^ "February 29th Is The First Rare Disease Day". Medical News Today. 28 February 2008. Archived from the original on 7 June 2020. Retrieved 14 February 2009.
- ^ "Join Us In Observing Rare Disease Day On Feb. 28, 2009!". National Organization for Rare Disorders. Archived from the original on 18 December 2008.
- ^ "Millions Around World to Observe Rare Disease Day". PR Newswire. 13 February 2009. Retrieved 14 February 2009.[permanent dead link]
- ^ "Rare Diseases Day: Experts call for more research for patients' welfare". The Indian Express. 28 February 2021. Retrieved 12 September 2021.
- ^ "Rare Revolution Magazine". rarerevolutionmagazine.com/. Retrieved 27 September 2023.
External links
- ICD-11 FAQ
- Database of rare diseases at GARD, The United States Genetic and Rare Diseases Information Center
- Database of rare diseases at Orphanet
- National Organization for Rare Disorders (United States)
- Rare Disease UK
- Rare diseases search engine
- Rare Revolution Magazine