Molecular genetics in the Republic of Macedonia has its beginning in the middle of 1960. It started by the establishment of a Laboratory for Hemoglobinopathies in the Pediatric clinic of the Faculty of Medicine in 1966, which in 1970 became a National Reference Laboratory for Hemoglobinopathies, than a part of the Research Center for Genetic Engineering and Biotechnology (RCGEB) – Macedonian Academy of Sciences and Arts (MASA) in 1987, and an International Reference Laboratory for Hemoglobinopathies in 1992. In the late 1990s laboratory of molecular medicine were established in the Department of Hematology, Department of Pediatrics and Institute of Immunology, Faculty of Medicine, and a Laboratory of Molecular Medicine in the Faculty of Pharmacy, University of Skopje. In this lecture, molecular genetics in Republic of Macedonia through the work of the RCGEB-MANU will be reviewed.

During 1966-1968 the first population studies for the incidence of b-thalassemia and abnormal hemoglobins (Hb) were carried on. A total of 2,800 school children were screened and an incidence of 4% of b-thalassemia and 1% of abnormal Hbs was found. During this period the biochemical and the genetic heterogeneity of thalassemias major and thalassemia intermedia were defined. Since 1970 when the National Reference Laboratory for Hemoglobinopathies (NRLH) was established the epidemiological and molecular basis of hemoglobinopathies in former Yugoslavia was determined. Blood samples from over 37,000 school children and over 5,000 patients with hemolytic anemia from all the republics and provinces of former Yugoslavia, except Slovenia, were studied. The molecular basis of a- and b-thalassemia and related disorders was determined. Seventeen new thalassemias mutations and 12 new abnormal hemoglobins were identified and described for the first time. Since 1990 when the NRLH became an International Reference Laboratory for Hemoglobinopathies (IRLH) identification and characterization at the molecular level of abnormal hemoglobins and thalassemias in  patients originating from Albania, Argentina, Austria, Bulgaria, Czech Republic, Hong Kong , Italy, Israel, Malaysia, Netherlands, Singapore, Spain, Tunisia, USA have been carried on.

Through 23 research project funded primarily from foreign agencies the molecular basis of cystic fibrosis (CF), hemophilia (fVIII), muscular dystrophy, spinal muscular atrophy, Huntington’s disease, Fridreich’s ataxia, cystinuria, FMRS and other monogenic diseases was determined. New mutations in the CFTR, fVIII, SLC3A1, SLC7A9 and SRY genes were described for the first time.

Since the beginning of 1980 prenatal diagnosis of monogenic diseases and chromosomal aneuploidies and determination of the origin of biological samples by DNA analysis is carried on in the laboratories of our Center.

During the past 15 years the molecular basis of colon cancer and the molecular epidemiology of HCV, HBV, HPV and Chlamidia trachomatis infection have been studied.

Some of our results on molecular basis of the most common monogenic diseases, which have been published in numerous articles, will be presented in this lecture.