ITMS 26240220058

Coordinator: Ľudevít Kádaši (Institute of Molecular Physiology and Genetics SAS)

Partners:

• Institute of Molecular Physiology and Genetics SAS (principal partner)
• Institute of Experimental Oncology SAS
• Insitute of Virology SAS
• Centre of Molecular medicine SAS
• Comenius University in Bratislava

Objectives:

Etiological diagnostics of serious hereditary diseases by identifying causative mutations,  a vital prerequisite of effective treatment and prevention.

Annotation

The main objective of the project is translation of the latest findings of basic research into medicine to make them ready for use in clinical practice. This type of research, which is called translational and is now moving R&D forward in developed countries, is lacking in our country. The need for translational research in medicine stems from the enormous growth of new knowledge and methodologies in the diagnosis and treatment of the most serious human diseases such as hereditary diseases. The focus of the project is directly related to the substantive priorities of long-term national science and technology policy, including two areas – health and quality of life (serious hereditary diseases significantly impair quality of life) and biotechnology (methods of analysis of genes and development of diagnostic DNA chip are based on the most modern techniques of biotechnology). The project aims to develop, optimize and implement into everyday medical care easy, fast and economical methods of direct identification of the responsible mutations for the purposes of etiological diagnosis of serious inherited diseases frequent in the population of Slovakia. Without detailed etiological diagnosis, neither effective therapy nor prevention are conceivable, either in the pre-symptomatic period in the bearer of the mutation, or at the level of the family by way of genetic counseling or prenatal genetic diagnostics. To achieve this objective, the relevant genes will be subjected to molecular analysis to determine the spectrum of mutations in Slovak patients. The existing empirical data indicate that there may be significant differences between populations both in the mutational spectrum as well as in the proportion of prevailing mutations, so one cannot adopt results obtained in other populations. This analysis has to be carried out in Slovakia.