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Projects / Programmes source: ARIS

Molecular-genetic basis of chronic disorders in children and adolescents

Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B660  Biomedical sciences  Pediatrics 
B790  Biomedical sciences  Clinical genetics 
B480  Biomedical sciences  Endocrinology, secreting systems, diabetology 
Keywords
inborn diseases, genetics, endocrinology, diabetes, child, adolescent
Evaluation (rules)
source: COBISS
Researchers (13)
no. Code Name and surname Research area Role Period No. of publicationsNo. of publications
1.  23435  PhD Magdalena Avbelj Stefanija  Human reproduction  Researcher  2004  178 
2.  13023  PhD Tadej Battelino  Medical sciences  Head  2002 - 2004  1,255 
3.  01314  MSc Nevenka Bratanič  Human reproduction  Researcher  2002 - 2004  279 
4.  13409  PhD Nataša Bratina  Human reproduction  Researcher  2002 - 2004  433 
5.  22251  Jurka Ferran    Researcher  2002 - 2004 
6.  21358  PhD Primož Kotnik  Human reproduction  Researcher  2002 - 2004  247 
7.  02278  PhD Ciril Kržišnik  Human reproduction  Researcher  2002 - 2004  458 
8.  14020  PhD Barbka Repič Lampret  Human reproduction  Researcher  2002 - 2004  162 
9.  19252  MSc Mirjam Stopar Obreza  Human reproduction  Researcher  2002 - 2004  39 
10.  20253  PhD Katarina Trebušak Podkrajšek  Human reproduction  Researcher  2002 - 2004  409 
11.  10453  PhD Blanka Vidan-Jeras  Microbiology and immunology  Researcher  2002 - 2004  136 
12.  19701  Ivica Zupančič    Researcher  2002 - 2004  37 
13.  15440  PhD Mojca Žerjav Tanšek  Human reproduction  Researcher  2002 - 2004  318 
Organisations (2)
no. Code Research organisation City Registration number No. of publicationsNo. of publications
1.  0311  Blood Transfusion Centre of Slovenia  Ljubljana  5053960  1,761 
2.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,953 
Abstract
Inborn chronic diseases of infancy, childhood and adolescent period are genetically determined. The knowledge about genetic and molecular basis of the disease is crucial for establishing the precise diagnosis as well as for proper treatment and genetic counselling. The proposed research project aims to reveal genetic basis and genotype - phenotype correlation in the following diseases and syndromes: 1/ Autoimmune polyglandular syndrome type 1 (APS-1), 2/ Thiamine resistant anaemia (TRMA), 3/ Osteogenesis imperfecta, 4/ Barth syndrome, 5/ Nephrogenic diabetes insipidus, 6/ Papillon-Lefevre syndrome. The above listed diseases and syndromes differ considerably in clinical presentation, but have similar aetiology being monogenic diseases. Therefore, the research strategy and methods are common to all of them. In our hypothesis, we expect that despite the low incidence of the researched diseases and syndromes a correlation between genotype and phenotype can be established and thus an important information for the treatment of patient and counselling of their families can be obtained. After detailed clinical evaluation of patients and their families, genomic DNA will be isolated from peripheral leukocytes. Genes connected to specific disorder will be PCR amplified, screened for known mutations and subsequently sequenced. Identified mutations will be compared to the respective phenotype. From the obtained basic knowledge, implications for the treatment and genetic counselling will be drawn.
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