Research activity

In the first years after foundation in 1986/87, the primary research interest in the RCGEB was the study of the molecular basis of the most common monogenic diseases: thalassemia and other hemoglobinopathies, cystic fibrosis, hemophilia A, Duchenne-Becker muscular dystrophy, spinal muscular atrophy, Huntington-disease, cystinuria, fragile X mental retardation syndrome and others. The later research has spread to other rare monogenic diseases, and some complex conditions such as infertility and failed pregnancies. The results of these studies allowed determination of the defects responsible for these diseases in our country, and will provide successful application of molecular methods for diagnosis and prevention of these diseases.

One of the first studies conducted in the RCGB were the study of polymorphic DNA markers in human DNA, which later enabled the introduction of molecular methods for determining family relationships, determining the origin of the biological material, determining the proximity of different populations, and to study the chromosome aneuploidies in risk pregnancies and miscarriages. The methods based on the analysis of polymorphic DNA markers today represent part of the daily routine diagnostics in the RCGIB.

The molecular basis of some cancers such as breast, colon and prostate cancer were and remain the subject of the scientific interest in the RCGEB. Molecular epidemiology of hepatitis B and hepatitis C virus (HBV and HCV), human papilloma virus (HPV) and Chlamydia trachomatis infection is also a scientific interest of the RCGEB. The subject of interest in the RCGEB are molecular biotechnology, isolation and characterization of native restriction enzymes and DNA polymerases and their cloning and genetic modification in order to obtain enzymes with improved properties.

In the past 20 years the scientists in the RCGEB have worked on biochemical and DNA markers of the Ohrid trout, DNA markers in cultivated varieties of tobacco in the Republic of Macedonia, and the DNA markers in dog (Sarplaninec).

With the advancement of technology platform in the RCGEB, assisted by the European Commission under the FP7 project "National Reference Laboratory for Genomics and Proteomics-MACPROGEN" and the Government in the framework of the initiative to upgrade the research infrastructure in our country, conditions have been provided for modern research areas of genomics and proteomics.

The proteomics research in the RCGEB is focused on protein expression profiling of complex diseases/conditions such as cancer, male infertility and neuropsychiatric disorders. The main aim of this research is elucidation of the disease mechanisms through whole proteome comparison of diseased and healthy tissues and search for non-invasive screening/diagnostic biomarkers through proteomics analysis of body fluids. The Proteomics department at RCGEB has been dedicated to proteomics using the technique of 2D electrophoresis as separation method and peptide mass fingerprinting (PMF) for protein identification from its establishment. 2-D DIGE (2-Dimensional Differential In-Gel Electrophoresis), MALDI-TOF MS and Western blot analyzes are routinely performed. In addition microbial identification using MALDI-TOF-SARAMIS is offered. Recently, label-free shotgun proteome profiling and TOF-MRM method using cutting edge nano-LC-MS/MS platform have greatly extended the capacities for proteomics research. We are open to collaboration on research projects close to our research interest or projects where we can provide technical expertise. We welcome collaborations equally with academic and industry partners leading to new funding and scientific opportunities.

The research in the field of genomics is focused on applying micro array technology for micro duplications, and deletion in the etiology of mental retardation, infertility and cancer diseases and in the study of gene expression and micro RNAs as a reason for the occurrence of these diseases. New technologies for sequencing are used for the study of hereditary cancers and rare diseases through targeted sequencing of a number of genes or by exons sequencing. Also these technologies are applied to the molecular profiling of cancers for determining the presence of somatic mutations in a number of genes involved in the process of carcinogenesis.