V CONGRESS OF THE SERBIAN GENETIC SOCIETY BOOK OF ABSTRACTS KLADOVO, Serbia, 28 September-02 October 201 Publisher Serbian Genetic Society, Belgrade www.dgsgenetika.org.rs Editors Branka Vasiljević Snežana Mladenović Drinić Technical editors Zorana Kurbalija Novičić Bojana Banović Aleksandra Patenković Number of copies printed 350 Printing Akademska izdanja, Belgrade ISBN 978-86-87109-10-0 Design: Elda Stanković [email protected] WELCOME TO V CONGRESS OF THE SERBIAN GENETIC SOCIETY! Dear colleagues, Welcome to the 5th Congress of the Serbian Genetic Society. The Serbian Genetic Society (SGS) has been founded in 1968 and the first Congress organized by the SGS was held 20 years ago in Vrnjacka Banja. Since then, the Congress of Serbian Genetic Society is held every five years. Over the past 20 years, the Congress has grown from a national to an international meeting. On this occasion we will have participants from 26 countries, so we believe that this conference will successfully provide a platform for regional and international researchers and professionals in genetics to have a productive dialogue and share their views. The aim of the Congress is to reflect on progress made in genetics, to celebrate the best of contemporary research and to anticipate future developments in the discipline. The Congress will focus on wide range of topics organized in 8 sessions: Human Genome Variation, Medical Genetics, Genetic Toxicology: From Cell to Ecosystem, Adaptation to Changing Environments, Genetic Diversity, Phylogeny and Conservation, Methodology in Genetic Research, Pre Breeding and Breeding, New Techniques in Breeding. The programme will include 21 plenary lectures, 44 oral and 255 poster presentation and also, a special feature of the Congress will be a roundtable on novel food. More than 300 participants are expected to attend this year's Congress. Many of the presentations will accordingly be in lecture-like settings, but we hope that there will also be ample opportunities for informal interaction outside the scheduled sessions. We hope that participants will have opportunity not only to attend presentations of cutting-edge research, but also through those interactions to launch new projects and to spend time with co-authors. The successful organization of the Congress has required the talents, dedication and time of many members of the Scientific and Organizing committees and strong support from sponsors. I hope that you will find the Congress both pleasant and valuable, and also enjoy the cultural and natural beauty of Kladovo and National park Djerdap. Yours sincerely, Branka Vasiljevic Chair of the Scientific Committee 3 4 5 Honorary Committee Dragoslav Marinković Marko Anđelković Kosana Konstantinov Draga Simić Vukosava Diklić Ljubiša Topisirović Vasilije Isajev Marija Kraljević Balalić Nada Barjaktarević Vučinić Organizing Committee Snežana Mladenović Drinić (Chair) Zorana Kurbalija Novičić Ivana Strahinić Vladan Ivetić Slaviša Stanković Bojana Banović Novo Pržulj Ana Nikolić Aleksandar Lučić Jasmina Ludoški Mihailo Jelić Tanja Adnadjević Tatjana Savić Katarina Zeljić Biljana Nikolić Milan Stevanović Branka Popović Biljana Jekić 6 Scientific Committee Secretariat Branka Vasiljević (Chair) Marija Tanasković Marina Stamenković-Radak Aleksandra Patenković Jelena Milašin Vesna Kandić Branka Vuković-Gačić Nađa Nikolić Janoš Berenji Boško Toljić Dragana Obreht Vladan Popović Jelena Knežević-Vukčević Jovan Pavlov Dragana Miladinović Marko Đurakić Violeta Anđelković Goran Vukotić Guiseppe Damante Olivera Francetić Malgorzata Dobrzynska Vittorio Venturi Jeffrey D. Jensen Domagoj Šimić Cino Pertoldi George Patrinos Segey Zotchev Borut Peterlin Vera Garaj-Vrhovac Metka Filipić Goradana Nikčević Branka Zukić Mirjana Šijačić Nikolić Dragica Radojković Jelena Blagojević Dragana Cvetković Gordana Joksić Ninosalv Đelić Vesna Milankov Sofija Pavković-Lučić Marija Guč-Šćekić Ivana Novaković Đorđe Fira 7 8 PLENARY LECTURE 9 Opening lecture Opening lecture Pharmacogenomics and whole genome sequencing Theodora KATSILA and George P. PATRINOS Department of Pharmacy, School of Health Sciences, University of Patras, Greece Pharmacogenomics holds promise of personalized treatment and improved patient stratification. To date, there are genes (pharmacogenes) that relate to drug absorption, distribution, metabolism, excretion and toxicity (ADMET). A large number of rare or relatively frequent genomic variants were discovered in ADMET-related genes in around 500 genomes of various ethnicities, a large number of which were novel, residing in exons and regulatory regions and likely to have functional significance. This underlines the potential of whole genome sequencing to capture novel and potentially important ADMET gene-related variants. Novel ADMET gene- related variations occurred significantly more frequently in certain ethnic groups compared to others, which underlines the need: (a) to determine the incidence of pharmacogenomic markers in distinct ethnic groups and populations, and (b) to deposit these data in publicly available databases (microattribution approach). Such an approach is also of utmost importance for developing nations to fulfil the promise of genomic medicine (www.genomicmedicinealliance.org). Keywords: pharmacogenomics, whole genome sequencing, pharmacogenes, microattribution, Genomic Medicine 11 Plenary lecture PL-01 Talk Small supernumerary marker chromosomes – an update Thomas LIEHR Jena University Hospital, Institute of Human Genetics, Jena, Germany Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. The presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC and uniparental disomy of sSMC’s sister chromosomes (UPD) on the clinical outcome is summarized here acc. to data on >5,200 sSMC cases presented on http://ssmc- tl.com/Start.html. In 1/3 of sSMC patients clinical symptoms are found. Besides the known sSMC related syndromes Pallister-Killian-, isochromosome-15q12-, isochromosome-18p-, cat-eye- and Emanuel-syndrome there are numerous other yet unnamed and unidentified “sSMC-syndromes”. Recently, derivative-8- and derivative- 13/21 syndromes in complex sSMC were reported. In conclusion: the influence of chromosomal imbalance induced by sSMC size and its origin seems to have the largest impact on the phenotype of sSMC-patients. Besides, UPD and mosaicism may be important for the clinical outcome. All of that has to be considered in prenatal cases. Keywords: small supernumerary marker chromosomes (sSMC); genotype-phenotype correlation; cat-eye-syndrome; Emanuel-syndrome; Pallister-Killian-syndrome 12 Plenary lecture PL-02 Talk Pharmacogenomics: the basis of personalized medicine Branka ZUKIĆ Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia Pharmacogenomics is focused on exploring the relation of variation in DNA sequence and gene expression to drug efficacy and toxicity. It is a base for the implementation of personalized medicine and completely changes the old-fashioned therapeutic paradigm of »one dose fits all patients« and »trial-and-error« prescription, to a novel concept of »matching the right therapeutic and the right dose to the specific genetic signature of the patient«. Genetic variability can affect various aspects of drug therapy: disposition of the drug, efficacy of the drug and adverse drug reactions. Genetic factors account for 15-30% of inter-individual differences in drug metabolism and response. An example of the importance of pharmacogenomics is discovery that different individual responses to thiopurine drugs are caused by individual variations in thiopurine S-methyltransferase (TPMT) enzyme activity. Our research contributing to application of TPMT pharmacogenomic markers in clinical practice led to individualization of thiopurine therapy in childhood acute leukemia patients. Pharmacogenomics is rapidly growing filed that significantly improves translation of the knowledge from bench to bedside. Keywords: pharmacogenomics, personalized medicine, thiopurine drugs, thiopurine S- methyltransferase (TPMT) 13 Plenary lecture PL-03 Talk Effects of antibiotic treatments on oral and gut microbiota assessed by culture-independent bacterial community analysis Vladimir LAZAREVIĆ Genomic Research Laboratory, University of Geneva Hospitals and Faculty of Medicine, Geneva, Switzerland Changes in human bacterial communities in response to antibiotic therapy initially relied on culture-based techniques. However, the presence of numerous unculturable bacteria has necessitated the use of culture-independent approaches. We analyzed salivary and faecal microbiota by means of the 454 pyrosequencing of the 16S rRNA gene using samples collected before exposure to antibiotics, at the end of the treatment and about 3 weeks post-treatment. Individuals who were not given antibiotics were used as the control group. Amoxicillin treatment resulted in reduced species richness and diversity of the salivary microbiota, and a significant shift in the relative abundance of 35 taxa at different ranks from phylum to species level. Ciprofloxacin and notably nitrofurantoin treatments were not associated with a consistent reduction of species-level-phylotype richness and diversity in the gut microbiome. Our results point to (i) a substantial recovery of the human microbiota 3 weeks after the ciprofloxacin (gut microbiota) or amoxicillin (salivary microbiota) treatment