Most rare diseases are genetically inherited (about 80%). They appear immediately after birth or in early childhood.

Some genetic conditions are caused by entirely new mutations that arise in an individual. These are called spontaneous mutations.

If they are not hereditary, then they are the result of infections, allergies or the influence of environmental factors.

These are health institutions or parts of health institutions that provide appropriate care to those suffering from rare diseases. Centers for rare diseases are healthcare institutions at the tertiary level that perform tasks related to a certain type of rare diseases (Article 92a of the Law on Health Care): diagnosis of patients with rare diseases, prenatal and neonatal screening, genetic counseling, treatment of patients with rare diseases, keeping registers patients with rare diseases, cooperation with reference foreign centers for diagnosis and treatment of rare diseases, as well as with the network of European and world organizations for rare diseases, continuous education in the field of rare diseases.

There are 6 centers in Serbia: Clinical Center of Serbia, Institute for Pulmonary Diseases of Vojvodina, University Children’s Clinic Belgrade, Institute for Health Protection of Mother and Child Belgrade, Institute for Health Protection of Children and Youth Vojvodina Novi Sad, Clinic for Neurology and Psychiatry for Children and Youth Novi Sad.

In the Republic of Serbia, there is such a register in which data are entered on the number, type, diagnosed and treated patients suffering from rare diseases. Healthcare institutions are obliged to submit this data to centers for rare diseases. In practice, for now, it has not fully taken off, because the data are not filled in continuously and in a timely manner by the centers for rare diseases.

Rare Diseases Databasei is a website in the Serbian language where you can find all relevant data on rare diseases, which was modeled after European Orphanet. These data refer to information on diseases, clinical research, data on rare disease associations as well as data on medical institutions dealing with rare diseases.

Doctors in the Centers for Rare Diseases should provide information about clinical studies, but in practice it has been shown that very often the organizations or patient associations themselves inform patients about available clinical studies for certain diseases. Participation in clinical trials is voluntary and no one should decide for the patient. All available clinical studies can be found on the clinicaltrials.gov portal

The doctor has the obligation to provide written information about the study (informed consent). The patient has the right to take it home, read it alone or consult with someone. The text of the informed consent was approved by the Ethics Committee and the appropriate body of the Ministry of Health. The patient has the right and should ask anything that is not clear to him before signing the informed consent.

Informed consent is the patient’s consent to participate in clinical trials after all details and concerns about the study have been explained in detail. The patient has the right to withdraw at any moment without any consequences for his further treatment.