Projects / Programmes
Etiology, early detection and treatment of diseases in childhood and adolescence
January 1, 2013
- December 31, 2016
| 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 |
Researchers (38)
Organisations (2)
Abstract
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
