Projects / Programmes source: ARIS

Genetski polimorfizmi presnovnih poti pri avtizmu (Slovene)

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
3.01  Medical and Health Sciences  Basic medicine 
Evaluation (rules)
source: COBISS
Researchers (13)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  13023  PhD Tadej Battelino  Medical sciences  Head  2009 - 2012  1,246 
2.  01314  MSc Nevenka Bratanič  Human reproduction  Researcher  2009 - 2012  279 
3.  15657  PhD Maruša Debeljak  Oncology  Researcher  2009 - 2012  248 
4.  11711  PhD Vita Dolžan  Biochemistry and molecular biology  Researcher  2009 - 2012  766 
5.  22251  Jurka Ferran    Technical associate  2009 - 2012 
6.  28512  PhD Tinka Hovnik  Medical sciences  Junior researcher  2009 - 2012  107 
7.  02278  PhD Ciril Kržišnik  Human reproduction  Researcher  2009 - 2012  458 
8.  11515  PhD Marta Macedoni Lukšič  Neurobiology  Researcher  2010 - 2012  112 
9.  29097  Brigita Mali    Technical associate  2009 - 2012 
10.  09180  PhD David Neubauer  Oncology  Researcher  2009 - 2012  749 
11.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2009 - 2012  162 
12.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2009 - 2012  407 
13.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2009 - 2012  318 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,757 
2.  0381  University of Ljubljana, Faculty of Medicine  Ljubljana  1627066  48,536 
Significance for science
Autism is clinically extremly complex disease, but the pathogenesis is still poorly understood. Nevertheless, the thorough evaluation of genetic background of metabolic pathway revieled the involvement of reactive oxygen species metabolism genes in the aetiology of ASD. Those results have contributed to the understanding of the ASD complexity and its genetic background. This brought important new basic knowledge on aetiology of the disease as well as provide further new clinically relevant knowledge. It will contribute to the improvement in targeted and personalized medical treatment of the individuals with ASD.
Significance for the country
Autism presents in the modern society a growing problem with an increasing incidence and large public attention. The aetiology of autism remains despite the seriousness of the disease and the ongoing research largely unknown. More so, there is no effective treatment. Hence novel knowledge on the genetic background of the disease is of paramount importance for the society. Results of this project brought in adition to basic knowledge also clinically relevant new knowledge. This might lead to: • improvement of the medical service provided to patients with autism, • increase of the quality of life of patients and their families • decrease of the amount of workng days lost by the caregivers, • decrease of the direct and indirect costs relatet to this pathology.
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
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