Rare Disease and Orphan Drugs in Turkey; Medical and Social Problem

The disease whose prevalence is less than 1/2000 defined as "Rare Disease". These groups of diseases are very heterogeneous and able to affect multiple systems usually. Approximately 80% of them due to genetic causes, and the remaining 20% are due to environmental factors or idiopathic. It is continued with serious physical and mental deficits. These deficits adversely affect the life quality and make life expectancy of affected individuals very low. Although rare diseases show different epidemiological characteristics from country to country, they constitute an important public health problem for each country and cause trouble to diagnosis with special characteristics, treatment and follow-up. Especially in countries like Turkey where consanguineous marriages are common, risk of higher incidence in autosomal recessive diseases are increased. There have been difficulties in diagnosis, starting to treatment and prevention because of low incidence, delayed departure of patients to right research center/hospital busy with the disease and limited number of the available hospital. In addition, less number of specialist and lack of information in the issue, and higher treatment expenses make our country to have a unit which is busy with Rare Diseases and Orphan Medicine under the Ministry of Health in Turkey.