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's 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 percent of children with rare diseases will die before reaching their fifth birthday. 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.
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", 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.
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." 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.
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, "orphan diseases" have a distinct legal meaning. The orphan drug movement began in the United States.
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.
The Orphan Drug Act Has Driven Rare Disease Research
Established in 1983, the Orphan Drug Act has succeeded in encouraging pharmaceutical and biotech companies to address the unmet needs of rare disease patients. In 2016, interest in the rare disease space skyrocketed, as the FDA received a record-high 582 requests for orphan drug designation from pharma and biotech companies. Moreover, as new rare disease medicines continue to splash onto the market, worldwide sales have accelerated. In line with these observations, research from Evaluate Pharma suggests that orphan drug sales totaled to $114 billion in 2016 and are projected to double by 2022.
Despite growth in the rare disease space, there are approximately 7,000 "classified rare conditions", according to the National Institutes of Health, and still only about 566 rare disease treatments currently in development. This discrepancy can be attributed to the expenses of pushing a treatment through clinical trials, as well as the complexity inherent in the rare disease space, which often lacks sufficient patients for R&D.
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. Only about 400 rare diseases have therapies and about 80% have a genetic component 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 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, because so few children develop cancer, but the same cancer in adults may be more common.
Rare diseases are usually genetic and are therefore chronic. EURORDIS estimates that at least 80% of them have identified genetic origins. 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.
Big Data to Solve for Rare Diseases
For elusive conditions, big data techniques will be able to boost identification and treatment efforts. “Big data” is a hot topic across many industries, with many leaders lauding its ability to drive actionable insights and improve decision-making, and the same is true for the healthcare industry. For diagnostics and condition identification, in particular, big data techniques will allow for the amelioration of previously discussed medical algorithms. Instead of referencing a singular decision-tree or static look-up table, health professionals can use big data solutions to compare dynamic relationships on massive scales to track patterns and predict, with significant accuracy, rare diseases.
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 (RDCRN). The RDCRN provides support for clinical studies and facilitating collaboration, study enrollment and data sharing.
- ICD coding for rare diseases
- Health care rationing
- List of rare disease organisations
- Mystery Diagnosis
- Orphan drugs
- Rare Disease Day
- Syndrome Without A Name
- Visual Snow
- Undiagnosed Diseases Network
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