Projects / Programmes source: ARIS

Etiology, early detection and treatment of diseases in childhood and adolescence

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   
3.01.00  Medical sciences  Microbiology and immunology   

Code Science Field
B660  Biomedical sciences  Pediatrics 

Code Science Field
3.02  Medical and Health Sciences  Clinical medicine 
3.01  Medical and Health Sciences  Basic medicine 
Evaluation (rules)
source: COBISS
Researchers (38)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  20166  PhD Marija Anderluh  Psychiatry  Researcher  2013 - 2016  147 
2.  23435  PhD Magdalena Avbelj Stefanija  Human reproduction  Researcher  2013 - 2016  177 
3.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2013 - 2016  471 
4.  13023  PhD Tadej Battelino  Medical sciences  Head  2013 - 2016  1,230 
5.  13409  PhD Nataša Bratina  Human reproduction  Researcher  2013 - 2016  431 
6.  15657  PhD Maruša Debeljak  Oncology  Researcher  2013 - 2016  248 
7.  22251  Jurka Ferran    Technical associate  2013 - 2016 
8.  27756  PhD Petja Fister  Human reproduction  Researcher  2013 - 2016  170 
9.  06756  PhD Štefan Grosek  Human reproduction  Researcher  2013 - 2016  637 
10.  33868  PhD Urh Grošelj  Human reproduction  Researcher  2013 - 2016  483 
11.  33344  PhD Marija Holcar  Natural sciences and mathematics  Junior researcher  2013 - 2016  40 
12.  24834  PhD Matjaž Homan  Metabolic and hormonal disorders  Researcher  2013 - 2016  228 
13.  28512  PhD Tinka Hovnik  Medical sciences  Researcher  2013 - 2016  107 
14.  10972  PhD Janez Jazbec  Oncology  Researcher  2013 - 2016  321 
15.  22627  Mihaela Jurčec    Technical associate  2013 - 2016 
16.  34575  PhD Gašper Klančar  Oncology  Junior researcher  2013 - 2015  74 
17.  29589  PhD Simona Klemenčič  Psychology  Researcher  2013 - 2016  80 
18.  21358  PhD Primož Kotnik  Human reproduction  Researcher  2013 - 2016  247 
19.  32181  PhD Jernej Kovač  Medical sciences  Researcher  2013 - 2016  207 
20.  02278  PhD Ciril Kržišnik  Human reproduction  Researcher  2013 - 2014  458 
21.  29097  Brigita Mali    Technical associate  2013 - 2016 
22.  29593  Gašper Markelj  Microbiology and immunology  Junior researcher  2013 - 2016  81 
23.  14276  PhD Anamarija Meglič  Human reproduction  Researcher  2013 - 2016  156 
24.  29085  PhD Sendi Montanič  Microbiology and immunology  Technical associate  2013 - 2016 
25.  26462  PhD Simona Murko  Metabolic and hormonal disorders  Researcher  2013 - 2014  64 
26.  11015  PhD Rok Orel  Human reproduction  Researcher  2013 - 2016  388 
27.  35406  PhD Daša Perko  Human reproduction  Junior researcher  2014 - 2016  37 
28.  23760  PhD Tomaž Podnar  Cardiovascular system  Researcher  2013 - 2016  103 
29.  07530  PhD Zvonka Rener-Primec  Neurobiology  Researcher  2013 - 2016  209 
30.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2013 - 2016  160 
31.  34103  PhD Darja Šmigoc Schweiger  Human reproduction  Researcher  2015 - 2016  40 
32.  36427  PhD Andraž Šmon  Metabolic and hormonal disorders  Junior researcher  2013 - 2016  41 
33.  37490  PhD Tine Tesovnik  Human reproduction  Junior researcher  2014 - 2016  64 
34.  28571  PhD Nataša Toplak  Microbiology and immunology  Researcher  2013 - 2016  176 
35.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2013 - 2016  404 
36.  30481  PhD Samo Vesel  Cardiovascular system  Researcher  2013 - 2016  74 
37.  10453  PhD Blanka Vidan-Jeras  Microbiology and immunology  Researcher  2013 - 2016  136 
38.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2016  317 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0311  Blood Transfusion Centre of Slovenia  Ljubljana  5053960  1,736 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,366 
Research on etiology of genetic disorders followed by development of early detection and state of the art treatment of those disorders in early lifetime is continuous priority in modern society. Knowledge of the genetic background of the disease is often crucial and even decision making for further medical treatment and care of the patients and their family members. Effective clinically oriented studies could result in efficient and on-time treatment of disorders with previously unknown genetic background. The proposed continuation of the research program aims at investigating the most clinically relevant chronic diseases in childhood such as type 1 diabetes, hemophilia, periodic fever syndromes, phenylketonuria and others... The research results of investigated disorders during the past 3.5 years of work on the program significantly added to the basic knowledge in the respective fields and translated to novel applications in clinical practice improving the level of tertiary patient care. Novel basic knowledge also elucidated the etiology and clinical course of investigated diseases. Results from this program were published in 22 SCI publications representing internationally peer reviewed contribution to medical science with a total of several dozens of citations, demonstrating the scientific impact of the published data. Additionally, two international guidelines based on the research data were published. The continuation of the programme proposes 12 research chapters, all related to genetic disorders common among children and adolescents and therefore important burden of the national health care system. In addition to research on genetic etiology also environmental factors such as oxidative stress have an important role in disease development and progress. Therefore part of the programme will thoroughly study this issue. The proposed continuation of the program follows the same direction, introducing novel advanced clinical and basic methods and techniques for even more in-depth analysis of the etiology, diagnostics and treatment of chronic disorders in childhood. The focus of the programme will remain on rapid translation of basic research data to routine clinical practice for the direct benefit of chronically ill children and adolescents.
Significance for science
Work and published results from the period 2013-2016 contributed original data to basic principles of chronic disases as well as several clinical applications that were introduced into routine clinical practice through internationa guidelines and/or consensus statememnts, improvin medical care of a highly vulnerable patient population – chronically ill children and adolescents. Cumulatively the research group published 30 SCI papers from the research programme with an average impact factor 2.8, which is above the median for paediatrics. The research group had in the last 5 years 8045 total citations, (6799 external citations) in Scopus; 180,25 points in the A'' category, 123,47 A'' points per FTE (9 papers A'', 20 papers A'), and h-index 32. Most prominent results include: first description of mutation in the promoter region of DEPTOR gene in humans, related to insulin resistant in a obese paediatric population; evaluation of the carrier status for Familiar Mediterranean fever in the central and south-east Europe in 500 healthy residents of Hungary, Slovenia, Bosnia and Herzegovina, Serbia and Macedonia (carrier status in the region amounts to 10,5 %, which is considerably higher comparing to Western Europe); publication of new mutations in HESX1 and PROP1 genes in multiple pituitary insufficiency. The research of genetic background of co-occurrence of type 1 diabetes and celiac disease revealed associations with KIR receptors and ligands linked to specific determinants of the main histocompatibility complex: a stronger genetic component linked to HLA-C*07 and its interaction with KIR receptors on the surface of NK cells. A functional clinical investigation demonstrated that paradoxical embolisms play an important role in the aetiology of transitory ischemic attacks (TIA) in youth. The association of TIA with right-to-left shunt and micro-embolic signals was novel in paediatric population. International impact of results is demonstrated by citations in the first year after publication and in established international research collaborations, and by proven implementation of results into routine clinical practice.
Significance for the country
Medical care of chronically ill children and adolescents represents highest priority in developed societies. Better, faster and more accurate diagnostics and improved treatment strategies are crucial for faster reintegration of this highly vulnerable patient populations. Basic research contributes original data and enable better understanding of disease mechanisms; its translation into clinical research and subsequently routine clinical medicine represents the cutting-edge of modern biomedical research strategy, and fits perfectly into Slovene »smart specialization« policy within the main chain of values. Published and presented original research data increase the visibility of Slovenia and creates investment opportunities into services and products with highest added value.
Most important scientific results Annual report 2013, 2014, 2015, final report
Most important socioeconomically and culturally relevant results Annual report 2013, 2014, 2015, final report
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