Center for Genetic Diagnosis of Rare Diseases
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.
Science in the service of rare diseases
The Center, following the example of European countries, will grow into the National Center for the Genetics of Rare Diseases and into the Center of Excellence for Rare Diseases
The Center fulfills contracts with the Republic Health Insurance Fund of the RS (RFZO), which relate to advanced diagnostic methods (NGS) for genetic testing of patients suspected of rare diseases. Genetic diagnostics at IMGGE is based on clinical exome sequencing, within which 4813 clinically relevant genes are simultaneously sequenced.
Establishment of DNA biobanks for rare diseases and contribution to relevant databases with information on newly discovered genetic variants
Organization of lectures and workshops for medical doctors, geneticists, patient associations, general population
Design and distribution of leaflets on the genetics of rare diseases
Development of original bioinformatics software for molecular diagnostics of rare diseases
Coordinator: Dr Sonja Pavlović, Full Research Professor
Head office / Mailing address: Vojvode Stepe 444a, 11042 Belgrade 152, Serbia / Web System By Emarket1ng.NET