Projects / Programmes source: ARIS

Genetski dejavniki pri osteoporozi (Slovene)

Research activity

Code Science Field Subfield
3.07.00  Medical sciences  Metabolic and hormonal disorders   

Code Science Field
3.01  Medical and Health Sciences  Basic medicine 
Evaluation (rules)
source: COBISS
Researchers (12)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  20373  PhD Darja Bitenc Logar  Pharmacy  Researcher  2009 - 2010  17 
2.  25784  Nataša Faganeli  Pharmacy  Researcher  2009 - 2012  84 
3.  27741  PhD Simona Jurković Mlakar  Pharmacy  Researcher  2011 - 2012  82 
4.  19380  PhD Radko Komadina  Neurobiology  Researcher  2009 - 2012  485 
5.  23526  PhD Simon Kovač  Neurobiology  Researcher  2009 - 2012  174 
6.  12189  PhD Janja Marc  Metabolic and hormonal disorders  Head  2009 - 2012  710 
7.  24475  PhD Simona Mencej Bedrač  Pharmacy  Researcher  2009  75 
8.  25809  PhD Vid Mlakar  Metabolic and hormonal disorders  Researcher  2010  96 
9.  23549  PhD Robert Roškar  Pharmacy  Researcher  2011  297 
10.  23524  PhD Rihard Trebše  Neurobiology  Researcher  2009 - 2012  400 
11.  32807  PhD Peter Vrtačnik  Pharmacy  Junior researcher  2010 - 2012  18 
12.  32306  PhD Janja Zupan  Metabolic and hormonal disorders  Researcher  2010 - 2012  108 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0355  Orthopaedic Hospital Valdoltra  Ankaran  5053765  2,295 
2.  0787  University of Ljubljana, Faculty of Pharmacy  Ljubljana  1626973  17,150 
3.  1187  General hospital Celje  Celje  5064716  2,839 
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
Views history