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Projects / Programmes source: ARIS

Family history - genetic tool for preventive medicine

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B220  Biomedical sciences  Genetics, cytogenetics 

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
Keywords
family history, preeclampsia, preterm labor, Parkinson's disease, coronary artery disease, depression, public health, prevention
Evaluation (rules)
source: COBISS
Researchers (34)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  02058  Tatjana Berger  Public health (occupational safety)  Researcher  2010  245 
2.  20471  Dejan Bregar    Technical associate  2010  10 
3.  18329  PhD Josip Car  Public health (occupational safety)  Researcher  2013  244 
4.  34729  Renata Ceglar    Technical associate  2011 
5.  28073  Vesna Fabjan Vodušek  Human reproduction  Researcher  2010 - 2013  111 
6.  32837  Katarina Gasser    Technical associate  2011 - 2013 
7.  30915  PhD Dejan Georgiev  Neurobiology  Junior researcher  2010 - 2013  220 
8.  28624  PhD Milica Gregorič Kramberger  Neurobiology  Researcher  2010 - 2013  259 
9.  18265  Cirila Gros    Technical associate  2011 - 2013 
10.  19426  MSc Gorazd Kavšek  Human reproduction  Researcher  2010 - 2013  102 
11.  18330  PhD Janko Kersnik  Public health (occupational safety)  Researcher  2012 - 2013  953 
12.  32520  PhD Zalika Klemenc Ketiš  Public health (occupational safety)  Researcher  2010 - 2013  781 
13.  22819  PhD Tatja Kostnapfel  Public health (occupational safety)  Researcher  2010  367 
14.  30148  Marjeta Kuhar    Technical associate  2010 - 2013 
15.  23487  PhD Sara Mankoč Ramuš  Cardiovascular system  Researcher  2012 - 2013  74 
16.  17671  Lidija Ocepek    Technical associate  2011 - 2013  53 
17.  10458  PhD Borut Peterlin  Human reproduction  Head  2010 - 2013  865 
18.  11252  PhD Danijel Petrovič  Cardiovascular system  Researcher  2011 - 2013  317 
19.  05380  PhD Zvezdan Pirtošek  Neurobiology  Researcher  2010 - 2013  751 
20.  00789  PhD Tanja Premru-Sršen  Human reproduction  Researcher  2010 - 2013  362 
21.  28621  Bernarda Prosenc  Human reproduction  Technical associate  2011 - 2013 
22.  34292  Gregor Ramovš    Technical associate  2011 - 2013 
23.  21133  MSc Gorazd Rudolf  Human reproduction  Researcher  2010 - 2013  52 
24.  28168  Polona Sajovic    Technical associate  2010 - 2012 
25.  10937  PhD Polona Selič - Zupančič  Public health (occupational safety)  Researcher  2010  468 
26.  31348  Ljiljana Simeunović    Technical associate  2010 - 2013 
27.  15149  PhD Nataša Teran  Human reproduction  Researcher  2010 - 2013  97 
28.  26220  Barbara Toplek  Public health (occupational safety)  Researcher  2011 - 2013 
29.  15442  PhD Maja Trošt  Neurobiology  Researcher  2010 - 2013  465 
30.  15638  PhD Nataša Tul-Mandić  Human reproduction  Researcher  2010 - 2013  368 
31.  32544  Irena Vrečar  Public health (occupational safety)  Researcher  2011  10 
32.  34112  MSc Maja Zadel  Human reproduction  Researcher  2011 - 2013  15 
33.  30073  Nina Zupančič Križnar  Neurobiology  Researcher  2010 - 2013  52 
34.  20077  Sabina Žitko    Technical associate  2010 - 2013 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,959 
2.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,756 
Abstract
Preeclampsia and preterm labor are major causes of morbidity and mortality in pregnancy. In adults cardiovascular, neurodegenerative an psychiatric disorders i.e. Parkinson's disease and depression contribute significantly to the global burden of disease worldwide. Pathological process starts well before the first symptoms and signs of the named diseases apear. The etiology of these diseases is multifactorial, several genetic factors (gene mutation and genetic variability) as well as environmental factor do contribute. Family history is one of the most important risk factor in multifactorial disorders. Currently, genetic determinants can still not be efficiently diagnosed and used in the clinical practice. The purpose of this project is therefore to develop a questionaire for identification of family history and consequently for stratification of genetic risk for complex diseases. Additionally, we will test genetic polymorphisms in genes most consistently associated with chosen diseases. We expect that the family history stratification tool, along with genetic variability and established risk factors will enable to contribute to the successful identification of high risk individuals for preeclampsia and preterm labor, Parkinson's disease, depression and corronary heart disease.
Significance for science
In spite of the discovery of the human genome, useful predictive models based on genomic data haven't been developed for complex diseases yet. We demonstrated that family history is an important tool to improve predictive models. We also suggest integration of family history and other genomic data to improve predictive and personalised medicine.
Significance for the country
Complex disorders like coronary heart disease, diabetes, neurodegenerative disorder and preterm birth contribute significantly to the health burden of population. Consequently they have important economical consequences. With our research we contributed to the early identification of the at risk individuals and consequently to effective prevention of diseases.
Most important scientific results Annual report 2010, 2011, 2012, final report, complete report on dLib.si
Most important socioeconomically and culturally relevant results Annual report 2010, 2012, final report, complete report on dLib.si
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