Rare disease
189092
218440655
2008-06-10T17:43:13Z
Arcadian
104523
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A '''rare disease''' (sometimes known as an orphan disease) has such a low [[prevalence]] in a population that a [[physician|doctor]] in a busy [[general practice]] would not expect to see more than one case a year. Rare diseases, including those of [[genetics|genetic]] origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them.
== Prevalence ==
As a guide, low prevalence is taken as prevalence of less than 5 per 10,000 in the community[http://ec.europa.eu/health/ph_information/documents/ev20040705_rd05_en.pdf].
The NIH's Office of Rare Diseases states that, "an [[orphan drug|orphan]] or rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States" [http://ord.aspensys.com/asp/diseases/diseases.asp]. This office was established by H.R. 4013 in 2002.<ref name="urlPresident Signs Bills into Law">{{cite web |url=http://www.whitehouse.gov/news/releases/2002/11/20021106-3.html |title=President Signs Bills into Law |format= |work= |accessdate=}}</ref> H.R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act".<ref name="urlNORD - National Organization for Rare Disorders, Inc.">{{cite web |url=http://www.rarediseases.org/washington/bush_signs |title=NORD - National Organization for Rare Disorders, Inc. |format= |work= |accessdate=}}</ref> Similar initiatives have been proposed in Europe.<ref name="urlOrphaNews Europe : the newsletter of the Rare Disease Task Force">{{cite web |url=http://www.orpha.net/actor/EuropaNews/2008/080319.html |title=OrphaNews Europe : the newsletter of the Rare Disease Task Force |format= |work= |accessdate=}}</ref>
Rare disease 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 disease]]s and [[infectious disease]]s. 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. Many [[infectious disease]]s 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.
[[Eurordis]] (European Organisation for rare Diseases) estimates that there exist between 5,000 and 8,000 distinct rare diseases, affecting between 6% and 8% of the population.
==Characteristics==
Rare diseases are usually chronic and life-threatening. This is so because less severe rare illnesses are seldom identified as such. Eurordis estimates that at least 80% of them have identified genetic origins.<ref name="urlFebruary 29 is Rare Disease Day in Europe">{{cite web |url=http://www.novartis.com/newsroom/news/2008-02-28_rare-disease-day.shtml |title=February 29 is Rare Disease Day in Europe |format= |work= |accessdate=}}</ref> 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.
==See also ==
*[[List of diseases]]
*[[Orphan drug]]s
==References==
{{reflist}}
== External links ==
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*[http://www.hon.ch/HONselect/RareDiseases/index.html List] from Health on the Net Foundation, available in several languages
*[http://rarediseases.info.nih.gov/asp/diseases/diseases.asp List] from National Institutes of Health
*[http://www.diseasecard.org DiseaseCard.org] -- Information retrieval portal that integrates genetic and medical information
*[http://rarediseases.info.nih.gov/html/resources/info_cntr.html NIH's Genetic and Rare Diseases Information Center]
*[http://www.rarediseases.org/ National Organization for Rare Disorders]
*[http://www.orpha.net Database of rare diseases] at Orphanet
*[http://www.eurordis.org/rubrique.php3?id_rubrique=6 Information] from the European Organization for Rare Diseases
*[http://www.ojrd.com/ Orphanet Journal of Rare Diseases]
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[[Category:Rare diseases|*]]
[[Category:Epidemiology]]
[[br:KleƱved emzivat]]
[[de:Seltene Krankheit]]
[[es:Enfermedad rara]]
[[fr:Maladie rare]]
[[id:Penyakit langka]]