Molecular basis of organic acidurias in Serbia and application of new therapeutic strategies based on genotype

Principal Investigator: Maja Stojiljkovic, PhD

            The molecular genetic characterisation of patients with the most frequent organic acidurias (propionic academia (PA), isolated methylmalonic aciduria (MMA), methylmalonic aciduria with homocistinuria (MMAHC) and isolated homocystinuria (HC)) from Serbia will be the first data for the Eastern Europe. The established molecular diagnostics for 10 genes (PCCA, PCCB, MUT, MMAA, MMAB, MMACHC, MMADHC, TCN2, MTRR and MTR) will have useful application for diagnostic purposes. It will be helpful to guide clinical decisions and predict long-term outcome. It will also enable genetic counselling and prenatal diagnostics. The biobank with rare biological samples and registries of Serbian patients with PA, MMA, MMAHC and HC will be formed. The biobank and the registries will be put at disposal of European scientific community. The results of the project will be included in the National Mutation Frequency Databases (http://www.goldenhelix.org). The knowledge acquired through this collaboration will be important to research in novel therapies based on genotype. Therefore, this project has the potential to have future applications in pharmaceutical industry. The project will result in the integration of Spanish and Serbian scientists into European projects dedicated to finding new therapeutic approaches and rare diseases