Projects / Programmes
Genetski dejavniki pri osteoporozi (Slovene)
| Code |
Science |
Field |
Subfield |
| 3.07.00 |
Medical sciences |
Metabolic and hormonal disorders |
|
| Code |
Science |
Field |
| 3.01 |
Medical and Health Sciences |
Basic medicine |
Researchers (12)
Organisations (3)
Significance for science
With 18 published scientific papers we have definitely contributed to the progress of scienece in the field of genetics of osteoporosis.
1. New approach - better results. In our research we have used for the first time whole-genome expression analysis in human primary osteoblasts. Compared to the results from the animal studies, we are much closer to the discovery of osteoporosis-related genes. The reliability of the results is increased by further confirmed in 54 human bone tissue samples and the use of microCT analysis for bone structure assessment. We have developed a procedure for a very difficult isolation of human osteoblasts and by a rational, step-wise approach identified 15 genes, that were serious candidates for intensive research. In this way, we have opened new ways for research to other scientists and, hopefully, speed up the discovery of osteoporosis-related genes. On 2 genes, evaluated in functional studies, we will continue the work by ourselves.
2. The discovery of new signaling pathways in bone biology. Using this approach, we have not only discovered genes, but also metabolic pathways that have been relatively unknown and could be important in bone tissue metabolism (exp. ADRA2A, PTN). These new findings could also represent therapeutic targets for medicines, that are more efficient and have less undesirable effects.
3. Direction of further research - faster to our goals. On the basis of the identification of osteoporosis-related genes, we have narrowed down our research only to the genes with potential role in osteoblast biology. This is definitely a highly time and cost effective approach and represents an important contribution to this field of science.
4. Afterwards, we have also evaluated the clinical importance of SNPs and poited out new genetic and biochemical bone turnover markers that could be used for the prognosis, diagnosis and treatment follow-up in osteoporosis in the future.
5. On the basis of these results, first diagnostic microarray for the diagnosis of osteoporosis could be prepared. On these diagnostic microarrays, only the most important osteoporosis-related genes could be analyzed to find individuals with high risk for osteoporosis. Therefore, the analysis would be easily available and much cheaper.
Significance for the country
1. The possibility for the development of high-technology products in Slovenia. In the project, we have identified and clinically evaluated several genes, associated with the development and progress of osteoporosis. On these basis, a first diagnostic microarray for the diagnosis of osteoporosis could be prepared. On this microarray, only the most important osteoporosis-related genes could be analyzed (instead of 35.000 on the whole-genome microarray, only 50-100 important genes could be detected). In the future, diagnostic microarrays will enable a targeted approach to the identification of potentially osteoporotic individuals, and make these analyses easily available and much cheaper. The development of diagnostic microarray for osteoporosis will also enable the application for a patent. Additionally, a routine diagnostic microarray could be developed and produced in cooperation with a Slovenian high-tech company, contributing to the economic development of our society.
2. The reduction of costs in social services of the elderly in Slovenia. Better conditions of life and medical care leads to increased life expectancy worldwide and in Slovenia. Therefore, the incidence of chronic, age-related diseases, such as osteoporosism is increasing. Health, social and economic burdens of such disorders are already heavy and are expected to increase. Early identification of the diseases with molecular genetics tools would be of utmost importance. In the near future, diagnostic microarrays will enable easy and early identification and treatment of subjects at risk for this kind of chronic diseases, helping to prevention and early treatment. Therefore, genetic susceptibility research is very promising, as it also provides data on genetic background for a certain population. In our study, a huge data set was established on genes, that are associated with the development of osteoproosis in Slovenian population. These data will be used also for early diagnosis and treatment of osteoporosis in Slovenian population.
3. Safer treatment. Furthermore, important SNPs, identified in our study, could be tested for their influence on the efficacy and safety of the existing osteoporosis drug therapy. On the basis of this pharmacogenetic data, an individual approach could be applied and the most appropriate (efficient and safe) medicine prescribed to each patient. Better efficacy and less undesirable effects in patients would lead to the improvement in pharmacoeconomic profile of these drugs and substantially reduce the outcomes for the medicines and treatment of undesirable effects. Apart from preventing, early identification and treatment would have an enormous impact on two aspects of our life: better quality of life and lower economic burden in Slovenia.
4. Recognition of Slovenia in the international research. By collaborating with research groups abroad, we contribute to the recognition of Slovenia and its research work among the scientists world-wide. During our project, we have also extensively collaborated with research groups abroad, especially in the GENOMOS consortium.
5. Improvement of research work quality in Slovenia. Additionally, the use of recent and highly advanced research methodologies improves our knowledge and participates also to a better work in the field of under- and postgraduate education, as we become more competent in our field of research.
6. Improvement of the quality of higher education. In the field of the project, 4 PhD students defended their thesis (3 young researchers), 15 students defended their Diplomas and 2 theri Master thesis in study programmes of Pharmacy and Laboratory Medicine. Dimplomas as well as master and PhD thesis show high qualityTako diplome kot tudi magistrske in doktorske naloge izkazijejo veliko kakovost, that could not be provided without this project.
Most important scientific results
Annual report
2009,
2010,
2011,
final report,
complete report on dLib.si
Most important socioeconomically and culturally relevant results
Annual report
2009,
2010,
2011,
final report,
complete report on dLib.si
