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A rare disease (sometimes known as an orphan disease) has such a low prevalence in a population that a doctor in a busy general practice would not expect to see more than one case a year. In Epidemiology, the prevalence of a Disease in a Statistical population is defined as the total number of cases of the disease in the population at a given A physician, medical practitioner or medical doctor who practices Medicine, and is concerned with maintaining or restoring human Health A general practitioner, or GP is a medical practitioner who provides Primary care and specializes in Family medicine. Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. Genetics (from Ancient Greek grc-Latn genetikos, “genitive” and that from grc-Latn genesis, “origin” a discipline of Biology, is

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Prevalence

As a guide, low prevalence is taken as prevalence of less than 5 per 10,000 in the community[1].

The NIH's Office of Rare Diseases states that, "an orphan or rare disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States" [2]. In the US, an orphan drug is any drug developed under the Orphan Drug Act of January 1983 ("ODA" a Federal law concerning Rare diseases This office was established by H. R. 4013 in 2002. [1] H. R. 4014, signed the same day, refers to the "Rare Diseases Orphan Product Development Act". [2] Similar initiatives have been proposed in Europe. [3]

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 diseases and infectious diseases. A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired An infectious disease is a clinically evident Disease resulting from the presence of Pathogenic microbial agents including Pathogenic viruses Pathogenic 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. Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease affecting the exocrine (mucus glands of the lungs Many infectious diseases are prevalent in a given geographic area but rare everywhere else. An infectious disease is a clinically evident Disease resulting from the presence of Pathogenic microbial agents including Pathogenic viruses Pathogenic Other diseases, such as many rare forms of cancer, have no apparent pattern of distribution but are simply rare. Cancer (medical term Malignant Neoplasm) is a class of Diseases in which a group of cells display uncontrolled

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. [4] 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

References

  1. ^ President Signs Bills into Law. Lists of Diseases by name 0-9 A B C D E F G H I J K In the US, an orphan drug is any drug developed under the Orphan Drug Act of January 1983 ("ODA" a Federal law concerning Rare diseases
  2. ^ NORD - National Organization for Rare Disorders, Inc..
  3. ^ OrphaNews Europe : the newsletter of the Rare Disease Task Force.
  4. ^ February 29 is Rare Disease Day in Europe.

External links

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