Rare diseases (RD) are becoming increasingly important as possible targets of new forms of treatment, as a valuable source of a novel insight in fundamental lows of biology, and in the specific mechanisms of many diseases. Molecular methods have created a better diagnosis and oftentimes treatment. RDs pose significant problem for the patients, since their problems are often not recognized by the medical community and shunned by the health insurance. The cumulative costs of diagnosis and treatment of RDs is significant for any society, oftentimes bearably acceptable for developing countries. Key words: rare diseases, definitions, social impact, Macedonia.

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