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What is a Rare disease?


Different countries have their own definition of rare diseases, which are similar but slightly different in various ways. In Europe a rare disease is one affecting less than 50 every 100,000 people.

Source: Nature

The definition used by the NIH and the U.S. Food and Drug Administration (FDA) today is that any disease affecting fewer than 200,000 Americans is considered rare. 


There are rare diseases in every area of medicine - autoimmune, cardiovascular, chromosomal, dermatologic, infectious, metabolic, neurologic, pulmonary, renal, and so forth.  Many rare diseases are “multi-system” diseases, affecting several different parts of the body and often devastating to those affected.


It is estimated that 80 to 90% of rare diseases are genetic diseases.

Many are apparent at birth, although there are also genetic diseases that don’t make their presence known until much later in life.  Many of the patients are children since, for about 50% of rare diseases, the onset occurs in childhood.


Mary Dunkle, NORD

Image by Greg Rakozy

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