Projects / Programmes
Etiology, early detection and treatment of diseases in childhood and adolescence
January 1, 2017
- December 31, 2021
| 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 |
paediatrics, obesity, diabetes mellitus, cancer, autoimmune disorders, immunodeficiency, allergy, psychiatry, genetics, epigenetics, miRNA, methylation patterns DNA, next generation sequencing
Researchers (49)
Organisations (2)
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
