Rare diseases, with the definition in Europe and other developed countries; Most commonly seen in 2000 or less, most are progressive, metabolic, chronic, and some are fatal.


  • About 8000 rare diseases have been described in the literature and 80% of these diseases are genetic.
  • Approximately 50% of the patients are children.
  • 30% of children with rare disease can not see the age of 5 years. The main reason for this situation is; 95% of rare diseases are not treated.
  • Rare diseases are seen in 1 out of every 16 people in Turkey; Turkey 5 million, about 350 million people in the world has a rare disease.
  • Each disease has its own characteristic. Due to this feature, special care and treatment methods, medicines, consumables, special foods and medical devices are needed.
  • Although the diseases are rare, the results are very severe for the patient, his / her family and the society.
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