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Rare disease

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A rare disease is any disease that affects a small percentage of the population.

Most rare diseases are genetic, 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 percent of children with rare diseases will die before reaching their fifth birthday.[1] With a single diagnosed patient only, ribose-5-phosphate isomerase deficiency is considered the rarest genetic disease.

No single cutoff number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another.

Global Genes have estimated that more than 300 million people worldwide are living with one of the 7,000 diseases they define as "rare" in the United States.[2] This community of people is often referred to as the "Rare and Undiagnosed Community".[citation needed]

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,"[3] or about 1 in 1,500 people. This definition is essentially like 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.[4]

However, the European Commission on Public Health defines rare diseases as "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them."[5] The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Diseases that are statistically rare, but not also life-threatening, chronically debilitating, or inadequately treated, are excluded from their definition.

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.[4]

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 used as a synonym for rare disease.[4] But in the United States and the European Union, "orphan diseases" have a distinct legal meaning. The orphan drug movement began in the United States.[4]

The United States' Orphan Drug Act includes both rare diseases and any non-rare diseases "for which there is no reasonable expectation that the cost of developing and making available in the United States a drug for such disease or condition will [be] recovered from sales in the United States of such drug" as orphan diseases.[6]

The European Organization for Rare Diseases (EURORDIS) also includes both rare diseases and neglected diseases into a larger category of "orphan diseases".[7]

Prevalence

Prevalence (number of people living with a disease at a given moment), rather than incidence (number of new diagnoses in a given year), is used to describe the impact of rare diseases. The Global Genes Project estimates some 300 million people worldwide are affected by a rare disease.

The European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 distinct rare diseases exist, and as much as 6% to 8% of the population of the European Union is affected by one.[7] Only about 400 rare diseases have therapies and about 80% have a genetic component according to Rare Genomics Institute.[citation needed]

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 genetic diseases and infectious diseases. An example is cystic fibrosis, a genetic disease: it is rare in most parts of Asia but relatively common in Europe and in populations of European descent. In smaller communities, the founder effect can result in a disease that is very rare worldwide being prevalent within the smaller community. Many infectious diseases are prevalent in a given geographic area but rare everywhere else. Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare. The classification of other conditions depends in part on the population being studied: All forms of cancer in children are generally considered rare,[8] because so few children develop cancer, but the same cancer in adults may be more common.

About 40 rare diseases have a far higher prevalence in Finland; these are known collectively as Finnish heritage disease.

Characteristics

Rare diseases are usually genetic[9] and are therefore chronic. EURORDIS estimates that at least 80% of them have identified genetic origins.[10] Other rare diseases are the result of infections and allergies or due to degenerative and proliferative causes.

Symptoms of some rare diseases may appear at birth or in childhood, whereas others only appear once adulthood is reached.

Research publications emphasize rare diseases that are chronic or incurable, although many short-term medical conditions are also rare diseases.[11]

Public research

The NIH's Office of Rare Diseases Research (ORDR) was established by H.R. 4013/Public Law 107-280 in 2002.[12] H.R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act".[13] Similar initiatives have been proposed in Europe.[14]

Public awareness

The first Rare Disease Day was held in Europe and Canada in February 2008 to raise awareness for rare diseases.[15][16] It is intended to be observed on the last day of February every year.[17]

Support

The National Organization for Rare Disorders was established in 1983 by individuals and families with rare diseases.[18][19]

Genetic Alliance, established in 1986, lists information and support groups for approximately 1200 rare diseases.[20]

The Global Genes Project is one of the leading rare and genetic disease patient advocacy organizations in the world. The non-profit organization is led by Team R.A.R.E. (R.A.R.E stands for Rare disease, Advocacy, Research and Education).[21] Global Genes promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™.[22] What began as a grassroots movement in 2009 with a few rare disease parent advocates and foundations has grown to over 500 global organizations. Global Genes uses a simple concept of "genes and jeans" to broadly promote the needs of the rare and genetic disease community. The organization has launched a number of innovative rare and genetic disease awareness campaigns including, Hope, It's In Our Genes™,[23] Wear That You Care™,[24] 7,000 Bracelets for Hope™[25] to represent the 7,000 different rare diseases and Unite 1 Million For RARE™ disease. Other nonprofit organizations in the United States include the Rare Undiagnosed Network (RUN) and the Undiagnosed Diseases Network.

The Canadian Organization for Rare Disorders (CORD) is the national network of organizations who represent people affected by rare disorders within Canada. CORD's intention is to provide a strong common voice advocating for a healthcare system and health policy for those with rare disorders.[26]

Patients with rare diseases in Greece are represented by the Greek Alliance of Rare Diseases.

See also

References

  1. ^ "Rare Diseases". Siope.Eu. 9 June 2009. Retrieved 24 September 2012.
  2. ^ "RARE List". Global Genes. 15 April 2016. Retrieved 15 April 2016.
  3. ^ Rare Disease Act of 2002
  4. ^ a b c d Rare diseases: what are we talking about?
  5. ^ "Useful Information on Rare Diseases from an EU Perspective" (PDF). European Commission. Retrieved 19 May 2009.
  6. ^ Orphan Drug Act §526(a)(2)
  7. ^ a b "Rare Diseases: Understanding This Public Health Priority" (PDF). European Organisation for Rare Diseases (EURORDIS). November 2005. Retrieved 16 May 2009.
  8. ^ "02/2009: Rare Cancers on Rare Disease Day". Ecpc-online.org. 28 February 2009. Retrieved 24 September 2012.
  9. ^ Aymé S, Schmidtke J (December 2007). "Networking for rare diseases: a necessity for Europe". Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 50 (12): 1477–83. doi:10.1007/s00103-007-0381-9. PMID 18026888.
  10. ^ "February 29 is Rare Disease Day in Europe".
  11. ^ van de Laar FA, Bor H, van de Lisdonk EH. (2008). "Prevalence of zebras in general practice: data from the Continuous Morbidity Registration Nijmegen". Eur J Gen Pract. 14. Suppl 1 (s1): 44–6. doi:10.1080/13814780802436176. PMID 18949644.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  12. ^ "President Signs Bills into Law".
  13. ^ "NORD - National Organization for Rare Disorders, Inc".
  14. ^ "OrphaNews Europe : the newsletter of the Rare Disease Task Force".
  15. ^ "February 29th Is The First Rare Disease Day". Medical News Today. 28 February 2008. Retrieved 14 February 2009.
  16. ^ "Join Us In Observing Rare Disease Day On Feb. 28, 2009!". National Organization for Rare Disorders.
  17. ^ "Millions Around World to Observe Rare Disease Day". PR Newswire. 13 February 2009. Retrieved 14 February 2009.
  18. ^ "About NORD". National Organization for Rare Disorders. 30 July 2008. Retrieved 14 February 2009.
  19. ^ "The National Organization for Rare Disorders (NORD) Names Peter Saltonstall New President". Reuters. 5 May 2008. Retrieved 14 February 2009.
  20. ^ "What is a Genetic Disease". Genetic Alliance. Retrieved 24 September 2012.
  21. ^ "Leadership". Globalgenes.org. Retrieved 10 July 2013.
  22. ^ "Genes Ribbon™". Globalgenes.org. 28 February 2013. Retrieved 10 July 2013.
  23. ^ "Patient Stories". Globalgenes.org. Retrieved 10 July 2013.
  24. ^ "Wear That You Care™". Globalgenes.org. 28 February 2013. Retrieved 10 July 2013.
  25. ^ 10 July 2013 By Ilana Jacqueline Leave a Comment. "7000 Bracelets for Hope™". Globalgenes.org. Retrieved 10 July 2013.{{cite web}}: CS1 maint: numeric names: authors list (link)
  26. ^ "Canadian Organization for Rare Disorders". Raredisorders.ca. Retrieved 24 September 2012.
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