Rare diseases represent a heterogeneous group of diseases whose prevalence is low (less than one affected person per 2000 people in the European Union). So far, between 5000 and 8000 rare diseases have been registered. It is believed that 6-8% of the population suffers from some rare disease. The impact of these diseases on society as a whole is even greater, because they also affect the families of those affected. The etiology and pathogenesis of most of these diseases is unknown, although most are known to be caused by genetic changes. Timely diagnosis is extremely important for patients suffering from rare diseases. An accurate genetic diagnosis can provide the patient with adequate therapy, and the family with the possibility of having a healthy offspring. The Center for Genetic Diagnosis of Rare Diseases within the IMGGЕ strives to provide the most up-to-date molecular genetic diagnosis to patients suffering from rare diseases. The aim of the Center is to facilitate the progress of biomedical science, as well as to contribute to the better position of patients in Serbia through educational activities.
