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A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. 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% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off 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 be common in another. The US organisation
Global Genes Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The organization is associated with a blue denim "Genes Ribbon" that is intended to raise awareness of patients affected by r ...
has estimated that more than 300 million people worldwide are living with one of the approximately 7,000 diseases they define as "rare" in the United States.


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 United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country Continental United States, primarily located in North America. It consists of 50 U.S. state, states, a Washington, D.C., ...
, 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", 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. However, the
European Commission The European Commission (EC) is the executive of the European Union (EU). It operates as a cabinet government, with 27 members of the Commission (informally known as "Commissioners") headed by a President. It includes an administrative body ...
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". 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.


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''. But in the United States and the
European Union The European Union (EU) is a supranational union, supranational political union, political and economic union of Member state of the European Union, member states that are located primarily in Europe, Europe. The union has a total area of ...
, "orphan diseases" have a distinct legal meaning. 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 erecovered from sales in the United States of such drug" as ''orphan diseases''. The
European Organization for Rare Diseases The European Organisation for Rare Diseases (EURORDIS) is a non-governmental patient-driven alliance of patient organizations and individuals active in the field of rare diseases, that promotes research on rare diseases and commercial development o ...
(EURORDIS) also includes both rare diseases and neglected diseases into a larger category of "orphan diseases".


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 Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The organization is associated with a blue denim "Genes Ribbon" that is intended to raise awareness of patients affected by r ...
estimates some 300 million people worldwide are affected by a rare disease. The
European Organization for Rare Diseases The European Organisation for Rare Diseases (EURORDIS) is a non-governmental patient-driven alliance of patient organizations and individuals active in the field of rare diseases, that promotes research on rare diseases and commercial development o ...
(EURORDIS) estimates that between 3.5 and 5.9% of the world's population is affected by one of approx. 6,000 distinct rare diseases identified to-date. European Union has suggested that between 6 and 8% of the European population could be affected by a rare disease sometime in their lives. About 80% of rare diseases have a genetic component and only about 400 have therapies, according to Rare Genomics Institute. 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 Asia (, ) is one of the world's most notable geographical regions, which is either considered a continent in its own right or a subcontinent of Eurasia, which shares the continental landmass of Afro-Eurasia with Africa. Asia covers an are ...
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 Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...
, 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, 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 Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of Bot ...
; these are known collectively as
Finnish heritage disease A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden (Meänmaa) and Russia (Karelia and Ingria). There are 36 rare diseases reg ...
. Similarly, there are rare genetic diseases among the
Amish The Amish (; pdc, Amisch; german: link=no, Amische), formally the Old Order Amish, are a group of traditionalist Anabaptist Christian church fellowships with Swiss German and Alsatian origins. They are closely related to Mennonite churc ...
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. Chronic genetic diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from bacterial or viral infections, allergies,
chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins ar ...
disorders, degenerative and proliferative causes, affecting any body
organ Organ may refer to: Biology * Organ (biology), a part of an organism Musical instruments * Organ (music), a family of keyboard musical instruments characterized by sustained tone ** Electronic organ, an electronic keyboard instrument ** Hammond ...
. Rare diseases may be chronic or incurable, although many short-term medical conditions are also rare diseases.


Public research and government policy


United States

The NIH's Office of Rare Diseases Research (ORDR) was established by H.R. 4013/Public Law 107–280 in 2002. H.R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act". Similar initiatives have been proposed in Europe. The ORDR also runs the
Rare Diseases Clinical Research Network The Rare Diseases Clinical Research Network (RDCRN) is an initiative of the Office of Rare Diseases Research (ORDR). RDCRN is funded by the ORDR, the National Center for Advancing Translational Sciences and collaborating institute centers. The RDCR ...
(RDCRN). The RDCRN provides support for clinical studies and facilitating collaboration, study enrollment and data sharing.


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. 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. In March 2017 it was announced that NHS England would develop an implementation plan. In January 2018 NHS England published its ''Implementation Plan for the UK Strategy for Rare Diseases''. 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". NHS England published ''England Rare Diseases Action Plan 2022'' in February 2022.


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.


Public awareness

Rare Disease Day Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The European Organisation ...
is held in
Europe Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a Continent#Subcontinents, subcontinent of Eurasia ...
,
Canada Canada is a country in North America. Its ten provinces and three territories extend from the Atlantic Ocean to the Pacific Ocean and northward into the Arctic Ocean, covering over , making it the world's second-largest country by to ...
, the United States and
India India, officially the Republic of India (Hindi: ), is a country in South Asia. It is the List of countries and dependencies by area, seventh-largest country by area, the List of countries and dependencies by population, second-most populous ...
on the last day of February to raise awareness for rare diseases.


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 Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. The European Organisation ...
*
Idiopathic disease An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. From Greek ἴδιος ''idios'' "one's own" and πάθος ''pathos'' "suffering", ''idiopathy'' means approximately "a disease of its own kin ...
* '' Mystery Diagnosis'' *
Health care rationing Health care rationing refers to mechanisms that are used for resource allocation ('' viz.'' ration) in health care. Overall health care United States Healthcare rationing in the United States of America is largely accomplished through market forc ...


References


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
{{DEFAULTSORT:Rare Disease