Loading...
Projects / Programmes source: ARIS

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

Periods
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 
Keywords
paediatrics, obesity, diabetes mellitus, cancer, autoimmune disorders, immunodeficiency, allergy, psychiatry, genetics, epigenetics, miRNA, methylation patterns DNA, next generation sequencing
Evaluation (rules)
source: COBISS
Researchers (49)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  20166  PhD Marija Anderluh  Psychiatry  Researcher  2017 - 2021  147 
2.  23435  PhD Magdalena Avbelj Stefanija  Human reproduction  Researcher  2017 - 2021  177 
3.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2017 - 2021  471 
4.  13023  PhD Tadej Battelino  Medical sciences  Head  2017 - 2021  1,230 
5.  35553  PhD Sara Bertok  Human reproduction  Researcher  2020 - 2021  86 
6.  38746  PhD Neli Bizjak  Human reproduction  Researcher  2019 - 2021  39 
7.  36211  PhD Štefan Blazina  Human reproduction  Researcher  2017 - 2021  46 
8.  13409  PhD Nataša Bratina  Human reproduction  Researcher  2017 - 2021  431 
9.  54654  Klementina Črepinšek  Human reproduction  Junior researcher  2020 - 2021  14 
10.  38769  Barbara Čugalj Kern  Metabolic and hormonal disorders  Junior researcher  2019 - 2021  13 
11.  15657  PhD Maruša Debeljak  Oncology  Researcher  2017 - 2021  248 
12.  34849  PhD Klemen Dovč  Metabolic and hormonal disorders  Researcher  2018 - 2021  160 
13.  24388  PhD Maja Drobnič Radobuljac  Psychiatry  Researcher  2017 - 2021  171 
14.  22251  Jurka Ferran    Technical associate  2017 - 2019 
15.  27756  PhD Petja Fister  Human reproduction  Researcher  2017 - 2021  170 
16.  06756  PhD Štefan Grosek  Human reproduction  Researcher  2017 - 2021  637 
17.  33868  PhD Urh Grošelj  Human reproduction  Researcher  2017 - 2021  483 
18.  33344  PhD Marija Holcar  Natural sciences and mathematics  Researcher  2017 - 2018  40 
19.  24834  PhD Matjaž Homan  Metabolic and hormonal disorders  Researcher  2017 - 2021  228 
20.  28512  PhD Tinka Hovnik  Medical sciences  Researcher  2017 - 2021  107 
21.  10972  PhD Janez Jazbec  Oncology  Researcher  2017 - 2021  321 
22.  51562  Aleksandra Jeličič    Technical associate  2018 - 2021 
23.  35356  PhD Barbara Jenko Bizjan  Medical sciences  Researcher  2019 - 2021  74 
24.  22627  Mihaela Jurčec    Technical associate  2017 
25.  29589  PhD Simona Klemenčič  Psychology  Researcher  2017 - 2021  80 
26.  21358  PhD Primož Kotnik  Human reproduction  Researcher  2017 - 2021  247 
27.  32181  PhD Jernej Kovač  Medical sciences  Researcher  2017  207 
28.  52079  Ema Lovšin  Microbiology and immunology  Junior researcher  2018 - 2021 
29.  29097  Brigita Mali    Technical associate  2017 - 2021 
30.  14276  PhD Anamarija Meglič  Human reproduction  Researcher  2017 - 2021  156 
31.  11015  PhD Rok Orel  Human reproduction  Researcher  2017 - 2021  388 
32.  05325  PhD Darja Paro  Neurobiology  Researcher  2017 - 2021  351 
33.  35406  PhD Daša Perko  Human reproduction  Researcher  2017 - 2021  37 
34.  23760  PhD Tomaž Podnar  Cardiovascular system  Researcher  2017 - 2018  103 
35.  07530  PhD Zvonka Rener-Primec  Neurobiology  Researcher  2017 - 2021  209 
36.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2017 - 2021  160 
37.  34914  PhD Aneta Soltirovska Šalamon  Human reproduction  Researcher  2017 - 2021  125 
38.  34103  PhD Darja Šmigoc Schweiger  Human reproduction  Researcher  2017 - 2021  40 
39.  36427  PhD Andraž Šmon  Metabolic and hormonal disorders  Junior researcher  2017 - 2018  41 
40.  55830  Anja Štangar  Human reproduction  Junior researcher  2021 
41.  50622  PhD Urša Šuštar  Metabolic and hormonal disorders  Junior researcher  2017 - 2021  31 
42.  37490  PhD Tine Tesovnik  Human reproduction  Researcher  2017 - 2021  64 
43.  28571  PhD Nataša Toplak  Microbiology and immunology  Researcher  2017 - 2021  176 
44.  20128  PhD Alenka Trampuš Bakija  Cardiovascular system  Researcher  2017 - 2021  127 
45.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2017 - 2018  404 
46.  30481  PhD Samo Vesel  Cardiovascular system  Researcher  2017 - 2018  74 
47.  50227  PhD Mojca Zajc Avramovič  Human reproduction  Researcher  2018 - 2021  45 
48.  53972  Ana Zajec  Human reproduction  Junior researcher  2020 - 2021 
49.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2017 - 2021  317 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,366 
2.  1620  University Psyhiatric Hospital  Ljubljana - Polje  1191004000  3,458 
Abstract
The continuation and expansion of the research program investigating chronic paediatric diseases is set into 8 subspecialties using specific clinical and psychological methods as well as molecular biology methods. Childhood obesity is a health-care and research priority. Novel Genetic and epigenetic biomarkers of obesity and its complications including miRNA and epigenetics of DNA will be investigated. Psychological aspects of morbid obesity will be evaluated with a longitudinal follow-up. The aetiology of Type 1 diabetes remains obscure and novel Biomarkers of T1D, deriving from beta-cells, may elucidate its progression. Methylation of DNA, RNA, extracellular vesicles isolation, cryo-electron microscopy, and NGS will be used. Genetics of dyslipidaemia in T1D as an important comorbidity will be investigated. Finally, Impact of stress in families with T1D will be assessed using new child-attachment interview technics. Research of genetic and epigenetic factors on treatment and prognosis of children with cancer will identify novel miRNA markers in the treatment of nephroblastoma. Bioprocess to develop chimeric antigen receptor (CAR)-T cells  will provide technics for production of this advanced cancer therapy. Genetics and evaluation of haemostasis in haemophilia A will guide a patient-specific treatment approach. Immunological mechanisms of failure of peripheral tolerance in systemic autoimmune diseases (SAD) will identify changes in signalling pathways involved into Treg homeostasis and function in SLE. Mechanisms of immune response after vaccination in SAD will provide clinical data for vaccination guidelines. Immuno-pathogenesis of development of SAD in inherited monogenic immune defects will investigate the important phenomenon of autoimmunity in inborn immune defects. Several allergic responses will be evaluated for improvement of current approaches. The Regulation of pubertal onset with Genetics of inherited isolated GnRH deficiency will elucidate delayed onset, while Genetics of precocious puberty will elucidate its genetic background beyond MKRN3. An Expanded universal new-born screening using tandem mass spectrometry will be developed along with a targeted NGS panel for diagnostic confirmation. Careful evaluation of Body composition, bone mineral density and microbiota in new-borns in relation to maternal nutritional status will be performed. Genetic evaluation of congenital hearing loss and developmental enamel defects will be developed and expanded. Clinical pharmacogenetics of oxcarbazepine in children with epilepsy will provide novel data for individualizing this therapy. Paediatric psychiatry is of particular importance in chronically ill children. The influence of genetic and environmental factors on the development of psychopathology aims at sophisticated identification of early signs of psychiatric problems along with elucidation of genetic background using targeted NGS and behavioural techniques.
Significance for science
Cumulatively the research group published 23 SCI papers from the research programme with an average impact factor )2. The research group had in the last 5 years 12668 total citations, (12046 external citations) in Scopus; 859 points in the A'' category, and h-index 44. 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 southeast 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. The extension of the programme proposes top-notch research in 8 specific fields in paeditrics using cutting-edge technologies and laboratory techniques.
Significance for the country
Health of paediatric and adolescent populations is considered a priority in modern developed societies. Basic and clinical research of the aetiology and early detection of severe chronic diseases of childhood and adolescence with continuous transfer of research results into clinical practice represents an optimal model of translational research in biomedicine.
Most important scientific results Interim report
Most important socioeconomically and culturally relevant results Interim report
Views history
Favourite