Projects / Programmes
Pathology and Molecular Genetics
January 1, 2009
- December 31, 2013
| Code |
Science |
Field |
Subfield |
| 3.01.00 |
Medical sciences |
Microbiology and immunology |
|
| 3.04.00 |
Medical sciences |
Oncology |
|
| Code |
Science |
Field |
| 3.01 |
Medical and Health Sciences |
Basic medicine |
Researchers (38)
Organisations (1)
Significance for science
We achieved internationally recognised results in our research of precursor lesions (SILs) of squamous cell carcinoma (SCC) of the head and neck and uterine cervix (UC) and the etiology and pathogenesis of the variants of SCC, spindle cell carcinoma (SC) and verrucous carcinoma (VC). The new proposal of classification of SILs of the larynx (the supplemented Ljubljana classification) facilitates better inter-observer agreement and enables to differentiate between different grades of SILs, to implement the most appropriate treatment and to predict biological behavior of the disease. Slovene pathologists planned and lead the study. In our research of variants of SCC of the head and neck, we described an original idea on epithelial-mesenchymal transformation as a mechanism for the occurrence of spindle cell carcinoma. We established that VC of the head and neck is not associated with HPV infection. We described several indicators (p63, miR-125b, miR-203) by which to distinguish VC from normal SCC, which is important in planning patient treatment. All results were published in international eminent journals with high IF. In the study of precursor lesions of SCC of the UC, we proposed several indicators (p16, Ki67 and ProExC) that enable assessment of these lesions and their differentiation from reactive epithelial changes. Genetic risk factors relating to hereditary diseases, multifactorial disease and cancer are not yet fully elucidated. We have shown on some important and unique correlations between genotype and phenotype in several hereditary based syndromes and multifactorial diseases. These data are currently being collected also by “The Human Variome Project” which is the global community's effort to collect, curate, and make accessible information on all genetic variations affecting human health. In cooperation with the EU's six centers, we joined the precise comparative genetic characterization of populations of northern Italy and Slovenia. The genetic isolation and small effective population size of the village populations was manifested by higher levels of genomic homozygosity and elevated linkage disequilibrium suggesting genetic isolation of some regions in Friuli-Venezia Giulia and Slovenia in the past. It has become more and more evident that in kidney diseases immune mechanisms are frequently accompanied by non-immune mechanisms, which significantly contribute to disease progression. Furthermore, our research results drew attention to frequently overlapping various immune mechanisms in the pathogenesis of renal and vascular diseases, which contribute to the course and prognosis of a disease. It is not rarely difficult to evaluate and compare the research achievements because of unequal inclusion diagnostic criteria. Therefore, an important contribution of our research group was participation in the preparation of the internationally agreed diagnostic criteria of two diseases – Fabry disease and Balkan endemic nephropathy.
Significance for the country
Slovene researchers achieved internationally recognized results in the research of precursors of squamous cell carcinoma (SCC) of the head and neck and uterine cervix and the etiology and pathogenesis of the variants of SCC, spindle cell and verrucous carcinoma. The results of all these investigations have been published in internationally eminent journals with high IF and Slovene pathologists have been invited to present lectures in the field of carcinogenesis of the head and neck at three of the largest world congresses of pathology: at the 23rd, 24th and 25th European Congresses of Pathology in Helsinki 2011, Prague 2012 and Lisbon 2013, at the Congress of the International Academy of Pathology in Cape Town 2012 and at the 103rd Annual Meeting of the American-Canadian Academy of Pathology in San Diego 2014. All these events contributed to the recognition and reputation of Slovene pathologists both at home and in the world. Molecular genetic research included some hereditary syndromes as well as cancer, which have not yet been investigated in Slovenian population. We developed new methodological approaches for effective and relatively inexpensive genotyping of many genes important for development of diseases. These methods include methodology DNA High-resolution melting curve analysis, heteroduplex analysis, capillary electrophoresis in combination with single chain DNA polymorphisms and DNA, microRNA microarrays. We discovered several new and for the Slovenian population characteristic mutations. This will allow us much easier population screening and identification of new family members with particular genetic changes. Moreover molecular diagnostic approaches for Usher syndrome (Eye Hospital, University Medical Centre Ljubljana) and EGFR gene mutations for lung cancer (Institute of Oncology) have already been implemented in routine clinical diagnostics. The introduction of modern technologies, new classifications of renal and vascular diseases, the achieved research experiences and regular clinico-pathologic collaboration significantly contribute to higher level of the biopsy diagnostics quality. Precise qualitative and quantitative assessment of immune and non-immune mediated tissue pathologic changes is important for the prognosis of the disease and enables the clinicians to choose the most appropriate treatment for the patient. Our original studies of immune and non-immune diseases of kidneys and vasculature, contributing also to better understanding of disease pathogenesis, were published in recognised international journals as well as presented as invited lectures on many international meeting and congresses and thus contributed to the reputation of Slovene science in the world. In addition, our research achievements importantly influence the undergraduate and postgraduate education process of biomedical students and medical doctors.
Most important scientific results
Annual report
2009,
2010,
2011,
2012,
final report,
complete report on dLib.si
Most important socioeconomically and culturally relevant results
Annual report
2009,
2010,
2011,
2012,
final report,
complete report on dLib.si
