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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
3.02  Medical and Health Sciences  Clinical medicine 
3.01  Medical and Health Sciences  Basic medicine 
Keywords
pediatrics, inborn errors/diseases, neonatal screening, metabolic disorders, diabetes, gastroenterology, oncology, infectious diseases, psychiatry, genetics, genomics
Evaluation (rules)
source: COBISS
Points
13,490.33
A''
1,882.47
A'
5,802.02
A1/2
8,850.22
CI10
34,507
CImax
1,984
h10
84
A1
45.19
A3
6.71
Data for the last 5 years (citations for the last 10 years) on April 15, 2024; A3 for period 2018-2022
Data for ARIS tenders ( 04.04.2019 – Programme tender , archive )
Database Linked records Citations Pure citations Average pure citations
WoS  1,177  37,135  35,458  30.13 
Scopus  1,141  44,837  42,977  37.67 
Researchers (46)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  20166  PhD Marija Anderluh  Psychiatry  Researcher  2022 - 2024  147 
2.  23435  PhD Magdalena Avbelj Stefanija  Human reproduction  Researcher  2022 - 2024  177 
3.  19258  PhD Tadej Avčin  Human reproduction  Researcher  2023 - 2024  471 
4.  13023  PhD Tadej Battelino  Medical sciences  Head  2022 - 2024  1,230 
5.  35553  PhD Sara Bertok  Human reproduction  Researcher  2022 - 2024  86 
6.  38746  PhD Neli Bizjak  Human reproduction  Researcher  2022 - 2024  39 
7.  13409  PhD Nataša Bratina  Human reproduction  Researcher  2022 - 2024  431 
8.  54654  Klementina Črepinšek  Human reproduction  Junior researcher  2022 - 2024  14 
9.  38769  Barbara Čugalj Kern  Metabolic and hormonal disorders  Junior researcher  2022 - 2024  13 
10.  15657  PhD Maruša Debeljak  Oncology  Researcher  2022 - 2024  248 
11.  34849  PhD Klemen Dovč  Metabolic and hormonal disorders  Researcher  2022 - 2024  160 
12.  24388  PhD Maja Drobnič Radobuljac  Psychiatry  Researcher  2022 - 2024  171 
13.  27756  PhD Petja Fister  Human reproduction  Researcher  2022 - 2024  170 
14.  06756  PhD Štefan Grosek  Human reproduction  Researcher  2022 - 2024  637 
15.  33868  PhD Urh Grošelj  Human reproduction  Researcher  2022 - 2024  483 
16.  24834  PhD Matjaž Homan  Metabolic and hormonal disorders  Researcher  2022 - 2024  228 
17.  28512  PhD Tinka Hovnik  Medical sciences  Researcher  2022 - 2024  107 
18.  10972  PhD Janez Jazbec  Oncology  Researcher  2022 - 2024  321 
19.  51562  Aleksandra Jeličič    Technical associate  2022 - 2024 
20.  35356  PhD Barbara Jenko Bizjan  Medical sciences  Researcher  2022 - 2024  73 
21.  29589  PhD Simona Klemenčič  Psychology  Researcher  2022 - 2024  80 
22.  21358  PhD Primož Kotnik  Human reproduction  Researcher  2022 - 2024  247 
23.  32181  PhD Jernej Kovač  Medical sciences  Researcher  2022 - 2024  207 
24.  52079  Ema Lovšin  Microbiology and immunology  Junior researcher  2022 - 2024 
25.  29097  Brigita Mali    Technical associate  2022 - 2023 
26.  58470  Ana Markež  Human reproduction  Junior researcher  2023 - 2024 
27.  14276  PhD Anamarija Meglič  Human reproduction  Researcher  2022 - 2024  156 
28.  11015  PhD Rok Orel  Human reproduction  Researcher  2022 - 2024  388 
29.  05325  PhD Darja Paro  Neurobiology  Researcher  2022 - 2024  351 
30.  35406  PhD Daša Perko  Human reproduction  Researcher  2022 - 2024  37 
31.  15476  PhD Marko Pokorn  Microbiology and immunology  Researcher  2023 - 2024  304 
32.  31306  Žiga Iztok Remec  Human reproduction  Technical associate  2022 - 2024  42 
33.  07530  PhD Zvonka Rener-Primec  Neurobiology  Researcher  2022 - 2024  209 
34.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2022 - 2024  160 
35.  56916  Barbara Slapnik  Human reproduction  Junior researcher  2022 - 2024 
36.  34914  PhD Aneta Soltirovska Šalamon  Human reproduction  Researcher  2022 - 2024  125 
37.  37426  PhD Robert Šket  Human reproduction  Researcher  2022 - 2024  70 
38.  34103  PhD Darja Šmigoc Schweiger  Human reproduction  Researcher  2022 - 2024  40 
39.  55830  Anja Štangar  Human reproduction  Junior researcher  2022 - 2024 
40.  29976  Jasna Šuput Omladič  Medical sciences  Researcher  2022 - 2024  40 
41.  50622  PhD Urša Šuštar  Metabolic and hormonal disorders  Junior researcher  2022 - 2024  31 
42.  37490  PhD Tine Tesovnik  Human reproduction  Researcher  2022 - 2024  64 
43.  20128  PhD Alenka Trampuš Bakija  Cardiovascular system  Researcher  2022 - 2024  127 
44.  56330  Blaž Vrhovšek  Medical sciences  Technical associate  2022 - 2024  15 
45.  53972  Ana Zajec  Human reproduction  Junior researcher  2022 - 2024 
46.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2022 - 2024  317 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,351 
2.  1620  University Psyhiatric Hospital  Ljubljana - Polje  1191004000  3,457 
Abstract
The research program exploits synergies deriving form close collaboration among various clinical pediatric subspecialties with cutting-edge laboratory and imaging technologies with a clear focus on early detection and diagnosis of inborn and acquired diseases, and development of improved and/or new diagnostic and treatment approaches. The main clinical subspecialties include: neonatology, newborn screening, inborn errors of metabolism, metabolic disorders, diabetes, gastroenterology, pediatric oncology, pediatric infectious diseases, pedo-psychiatry, genetic and genomics. Specific hypotheses focus on individual diseases, using common methods for their investigation: biochemical analyses with tandem-mass spectrometry, immunological analyses with flow-cytometers, imaging with US and MRI, genetic and genomic analyses by means of next generation sequencing, nano-pore sequencing, expression analyses, and methylation analyses. Special attention is dedicated to the development of new diagnostic approaches, particularly in the field of inborn errors and oncology, along with the development of new strategies for the neonatal screening program as a fast increasing number of inborn diseases become treatable, also with an increasing number of modern gene-therapies. Additionally, part of the program focuses on applicative basic research using plasma derived vesicles in various conditions and states. A special advantage of the proposed research program is its inherent possibility of the direct transfer from bench to bedside, enabled by the close bidirectional collaboration of clinical and laboratory specialists along with dedicated scientists.
Significance for science
Cumulatively the research group published over 50 SCI papers from the research programme. The research group had in the last 10 years over 21.000 citations, with an h-index of 68. Most prominent results were transferred into clinical rouitne, notably the universal screening and genetic diagnostics of familiar hypercholesterolemia, the expanded neonatal screening and novelation of the international guidelines for diabetes care. International impact of results is demonstrated by citations in the first year after publication, in established international research collaborations and in awards to our researchers. The extension of the programme proposes top-notch research in 9 specific fields in paeditrics using cutting-edge technologies, immaging, and laboratory techniques.
Significance for the country
Health of pediatric and adolescent populations is considered as an absolute priority in modern developed societies. Basic and clinical research of the etiology 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. The results from the research program were recently implemented into routine clinical practice for the entire pediatric population in Slovenia, and importantly influenced the development of new international clinical guidelines for major chronic diseases.
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