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Projects / Programmes source: ARIS

Genetic and morphologic basis of chronic disorders in children and adolescents

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
T470  Technological sciences  Textiles technology 
Keywords
medical genetics, diabetes, immunodeficiencies, paediatric cardiology
Evaluation (rules)
source: COBISS
Researchers (18)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  23435  PhD Magdalena Avbelj Stefanija  Human reproduction  Researcher  2007 - 2009  177 
2.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2007 - 2009  471 
3.  24578  PhD Saba Battelino  Neurobiology  Researcher  2007 - 2009  587 
4.  13023  PhD Tadej Battelino  Medical sciences  Head  2007 - 2009  1,232 
5.  01314  MSc Nevenka Bratanič  Human reproduction  Researcher  2007 - 2009  279 
6.  13409  PhD Nataša Bratina  Human reproduction  Researcher  2007 - 2009  431 
7.  11711  PhD Vita Dolžan  Biochemistry and molecular biology  Researcher  2007 - 2009  765 
8.  22251  Jurka Ferran    Technical associate  2007 - 2009 
9.  22627  Mihaela Jurčec    Technical associate  2007 - 2009 
10.  21358  PhD Primož Kotnik  Human reproduction  Researcher  2007 - 2009  247 
11.  02278  PhD Ciril Kržišnik  Human reproduction  Researcher  2007 - 2009  458 
12.  23760  PhD Tomaž Podnar  Cardiovascular system  Researcher  2007 - 2009  103 
13.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2007 - 2009  161 
14.  19252  MSc Mirjam Stopar Obreza  Human reproduction  Researcher  2007 - 2009  39 
15.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2007 - 2009  405 
16.  10453  PhD Blanka Vidan-Jeras  Microbiology and immunology  Researcher  2007 - 2009  136 
17.  19701  Ivica Zupančič    Technical associate  2007 - 2009  37 
18.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2007 - 2009  317 
Organisations (3)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0311  Blood Transfusion Centre of Slovenia  Ljubljana  5053960  1,737 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,669 
3.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,399 
Abstract
The knowledge and understanding of genetic background of chronic diseases allow for individualized long-term treatment plans for individual patients and for genetic counseling. The knowledge about morphologic background of a disease enables etiological treatment. The research project proposal consists of four parts. In the first part entitled “The effect of GST, MnSOD, catalase, TNF-alpha and iNOS polymorphisms on beginning, metabolic control and progression of type 1 diabetes mellitus” we hypothesize that polymorphisms in investigated genes are related to clinical parameters of type 1 diabetes mellitus, particularly to progression of long-term complications. In the second part entitled “The influence of MICA and MICB polymorphism and linkage disequilibrium with HLA-DR in DQ on outburst and development of celiac disease in patients with from type 1 diabetes mellitus” we expect significant differences in MICA and MICB polymorphisms in patients with T1DM and celiac disease as compared to those with T1DM alone. We plan to identify those MIC polymorphisms that convey high risk for development of celiac disease in T1DM. In the third part entitled “Genetic and structural protein defects in children with Chronic Granulomatous Disease” we plan to analyze gp91 subunit of NADPH oxidase in different CGD gene mutations and subsequently model protein function. In the fourth part entitled “Patent foramen ovale as a risk factor for ischemic cerebrovascular events in children” we hypothesize that patent foramen ovale may represent an important etiological factor in cryptogenic cerebrovascular events in children and thus plan to investigate this children with a non-invasive technique with contrast transcranial Doppler. Results of all four parts of the research project proposal will be translated into clinical algorithms.
Significance for science
The results of the first three specific aims with the evaluation of genetic polymorphisms in metabolic pathways, in the main histocompatibility complex and new mutation in the CYBB gene significantly add to the basic knowledge in the fields of diabetes mellitus, celiac disease and chronic granulomatous disease. Additionally, our results translate to novel applications in clinical practice improving the level of tertiary patient care. Novel basic knowledge also elucidates the etiology and clinical course of investigated diseases. Results of the fourth specific aim significantly contribute to the novel diagnostic and therapeutic pathway for children with open foramen ovale, opening the possibility of direct transfer into routine clinical practice.
Significance for the country
Final results from the research project add to the Slovenian national development in four distinctive ways: Publications in SCI listed scientific journals with high impact factors are internationally accepted indicators of the level of scientific research and significantly contribute to the international prestige of Slovenian scientific research. Presentation of own original scientific data on international meetings and invited lectures promote the recognition and the standing of Slovenian scientific research. Incorporation of graduate students in the publishable scientific research enables our PhD programs to be internationally comparable and recognized. Translation of the scientific data into clinical routine increases the quality of tertiary clinical care and thus the general health condition of Slovenian population.
Most important scientific results Annual report 2008, final report, complete report on dLib.si
Most important socioeconomically and culturally relevant results Annual report 2008, final report, complete report on dLib.si
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