PhD thesis by Nina Erčulj systematically investigated the influence of pharmacogenetic polymorphisms on in treatment response in childhood acute lymphoblastic leukemia and malignant mesothelioma in adults. The results indicate that genetic variability in drug metabolizing enzymes and DNA repair mechanisms influence the occurrence of treatment related toxicities and resistance to treatment. These results will contribute to the individualisation of cancer treatment. Nina Erčulj was awarded UNESCO – L'Oreal For Women in Science award for her outstanding contribution to the field of cancer pharmacogenetics. The researchers of the programme group were mentors and comentors of 26 PhD theses. They were awarded with several prizes: altogether 4 KRKA awards, 4 UNESCO – L'Oreal For Women in Science awards, 2 Jozef Stefan Golden Emblem Prize awards, 1 Ad Futura award and I Maks Samc award for the best PhD theses in the field of biochemistry. Currently 11 of former PhD students work for business sector, mostly in pharmaceutical industry, 6 are employed at higher education and public research institutions, 7 (6 of them MDs) in health care sector, and 2 are abroad. Many of them continue scientific collaboration with the programme group also after their employment. The leader and members of the programme group also mentored and comentored 34 graduation and 9 masters theses.
D.10 Educational activities
COBISS.SI-ID: 261454080Members of the programme group contributed to the organization of the International symposium Molecular Medicine and Biotechnology which took place at the Faculty of Medicine, University of Ljubljana, Slovenia, from 27th to 29th June 2012. Prof. dr. Ana Plemenitaš was the chair od the Programme committee. Symposium was organized to honor the 40th anniversary of the Institute of Biochemistry and 20th anniversary of the Medical Centre for Molecular Biology of the Faculty of Medicine. Institute of Biochemistry is a research institute which has in its 40-year history contributed to development and transfer of new methods and skills in clinical practice. During this time it has established successful cooperation with many top research institutes from around the world and thereby contributed to wealth of knowledge in medical and life sciences. Institute is also an educating establishment where knowledge transfer takes place on two levels: at undergraduate level, where future medical doctors and dentists are educated, and graduate studies, which involves students from various natural and biological sciences. The symposium brought together established and top-quality international and national experts, with whom we have long-standing collaboration. They presented “hot” topics interesting to all researchers in the field of medicine and life sciences. Since symposium was organized for the celebration of the 40th anniversary of the Institute of Biochemistry and 20th anniversary of the Medical Centre for Molecular Biology we have invited also professors from both institutes, and alumni researchers and medical doctors who have been trained over the years and are today running eminent medical diagnostic laboratories.
B.01 Organiser of a scientific meeting
COBISS.SI-ID: 262270208Parkinson's disease (PD) is a sporadic progressive neurodegenerative brain disorder with a relatively strong genetic background. We have reviewed the current literature about the genetic factors that could be indicative of pathophysiological pathways of PD and their applications in everyday clinical practice. Information on novel risk genes is coming from several genome-wide association studies (GWASs) and their meta-analyses. GWASs that have been performed so far enabled the identification of 24 loci as PD risk factors. These loci take part in numerous cellular processes that may contribute to PD pathology: protein aggregation, protein, and membrane trafficking, lysosomal autophagy, immune response, synaptic function, endocytosis, inflammation, and metabolic pathways are among the most important ones. The identified single nucleotide polymorphisms are usually located in the non-coding regions and their functionality remains to be determined, although they presumably influence gene expression. It is important to be aware of a very low contribution of a single genetic risk factor to PD development; therefore, novel prognostic indices need to account for the cumulative nature of genetic risk factors. A better understanding of PD pathophysiology and its genetic background will help to elucidate the underlying pathological processes. Such knowledge may help physicians to recognize subjects with the highest risk for the development of PD, and provide an opportunity for the identification of novel potential targets for neuroprotective treatment. Moreover, it may enable stratification of the PD patients according to their genetic fingerprint to properly personalize their treatment as well as supportive measures.
F.21 Development of new health/diagnostic methods/procedures
COBISS.SI-ID: 33093849This patent presents a new approach in noninvasive diagnostics of ovarian endometriosis by determining metabolites in blood of patients. The analytes were quantified by electrospray ionization tandem mass spectrometry and eight lipid metabolites were identified as endometriosis-associated biomarkers. A stepwise logistic regression procedure was used for selecting the best combination of biomarkers. lnventors of this patent are from University of Ljubljana and Helmholtz Zentrum Munich.
F.32 International patent
COBISS.SI-ID: 29981657Prof. Dolžan is a member of Scientific Advisory Committee, the highest organ of The Genomic Medicine Alliance-GMA (http://www.genomicmedicinealliance.org/). GMA is an international research network with research activities that focus on Genomic Medicine. In 2016, the Genomic Medicine Alliance has over 1100 members from all over the world. The Genomic Medicine Alliance aims to create collaboration ties between academics, researchers, regulators, and the general public interested in all aspects of genomics and personalized medicine. The Alliance provides the means to establish networks and to encourage collaborative work towards advancing the Genomic Medicine discipline, focusing in particular on translating results from academic research into clinical practice. In the framework of cooperation in the GMA, we started with the development of guidelines and recommendations for translational pharmacogenomic testing into clinical practice in different European populations. We have studied the spectrum of pharmacogenomic markers in 18 European populations (PLoS One, COBISS 32828377, IF 3.057), provided guidelines for reporting the results of pharmacogenomic testing (Pharmacogenomics, COBISS 32807129, IF 2.71) and proposed recommendations regarding the reimbursement of pharmacogenomic testing (Pharmacogenomics, COBISS 32853721, IF 2.71).
D.03 Membership in foreign/international boards/committees
COBISS.SI-ID: 32853721