It is estimated that at least 5 million people in Turkey are affected by a rare disease. Rare Diseases are an important public health problem in Turkey, as in almost every country.

Due to the difficulty in diagnosing Rare Diseases, there is a need for specialized physicians, clinical centers, and diagnostic laboratories. Drugs used in the treatment of rare diseases are often expensive due to the challenging, time-consuming, and costly nature of the research and development processes. In order to address the challenges faced by patients and their families, it is crucial to establish a reliable data collection and evaluation mechanism for rare diseases within the general healthcare system. Additionally, there is a need for the development of a national health policy on rare diseases and orphan drugs in our country.

There is currently no regulation defining Rare Diseases and orphan drugs in our country. Therefore, despite the presence of many experts working on Rare Diseases, the number of researchers reaching conclusive results in this field is significantly lower than needed. Hence, conducting studies to meet the needs in this regard is of great importance in Turkey.