Community Research and Development Information Service - CORDIS


Rare diseases: Concentrating European research for the few



So-called 'rare diseases' individually affect small groups of people within the general population. In the European Union, a disease is considered rare when it affects less than one person in 2 000.These diseases are often of genetic origin, usually life-threatening or chronically debilitating. The number of different rare diseases is estimated at some 6 000 to 7 000. Because of the low prevalence of each individual rare disease, patients affected with a particular rare disease in any one country are scarce, as are the specialised clinicians. The causes of the disease are often poorly understood, diagnosis is frequently delayed and for the majority of rare diseases therapeutic options are minimal or non-existent. However, the impact on the quality of life of affected patients and their family members is significant. Elucidating the pathology of a rare disease can provide insights into more common diseases. In contrast with more common diseases, which are generally multifactorial in their causes, rare diseases often result from a dysfunction of a particular pathway (for example a defective gene or protein). An understanding of the impact of a single defect may hence yield insights into the more complex pathways involved in common diseases.

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