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13Balkan.Pdf 22, Supplement 1, 2019 BJMG is an open access, peer-reviewed journal. All articles in the journal are immediately and permanently available online for all to read and use free of charge. BJMG is published twice a year. Indexed or abstracted in: EMBASE (the Excerpta Medica database), Elsevier Biobase (Current Awareness in Biological Sciences), Elsevier GeoAbstracts, PubMed Central, Scopus, Chemical Abstracts (CA), Science Citation Index Expanded, SCImago (SJR) Journal Citation Reports/Science Edition, De Gruyter, Academic Open Access Publisher. BJMG is covered by Thomson Reuters services. EDITORS Plaseska-Karanfilska D (Skopje), Toncheva DI (Sofia) PAST EDITOR Efremov GD (Skopje) EDITORIAL BOARD Apak M (Istanbul) Geraedts J (Maastricht) Nakamara Y (Tokyo) Avent N (Plymouth) Goossens M (Paris) Pavelic K (Zagreb) Baranov V (St Petersburg) Kanavakis E (Athens) Peterlin B (Ljubljana) Barisic I ( Zagreb) Keohavong P (Pittsburg) Stevanovic M (Belgrade) Basak N (Istanbul) Kocova M (Skopje) Todorova A (Sofia) Czeizel A (Budapest) Kremenski I (Sofia) Tomlinson I (London) Cooper D (Cardiff) Kucinskas V (Vilnius) Vella F (Saskatoon) Dimovski AJ (Skopje) Khusnutdinova E (Ufa) Wajcman H (Paris) Dörk T (Hannover) Labie D (Paris) Yapiyakis C (Athens) Efremov DG (Trieste) Liehr T (Jena) Zoraqi G (Tirana) Fryns JP (Leuven) Lungeanu A (Bucharest) EDITORIAL ASSISTANTS Sukarova Stefanovska E, Skopje Carver M.F.H, Evans, GA, USA Janeska K, Skopje EDITORIAL OFFICE Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, POB 428 1000 Skopje, Republic of Macedonia. Phone: + 389 2 3235 411, fax: + 389 2 3115 434, E-mail: [email protected] Web page: www.bjmg.edu.mk PUBLISHER BJMG is published by Macedonian Academy of Sciences and Arts Printed by: LOCAL AGENCY Front cover page: Statue of Apollo, Miletus, II century AD Back cover page: Funerary stele of Paparrion, Denizli, III century AD Balkan Journal of Medical Genetics Vol. 22, 2019 Supplement 1 Disclaimer This abstract book has been produced using author-supplied copy. Editing has been restricted to some corrections of spelling and style where appropriate. The organizing Committee assumes no responsi- bility for any claims, instructions, methods or drug dosages contained in the abstracts. BJMG Dear Participants, We welcome you all for joining us in this 13th Balkan Congress of Human Genetics in Edirne between the dates of April 17-20, 2019. We will start our congress with four different course topics specialized in the various fields of Human Genetics, where apparent associations are frequent but cause-to-effect issues are challenging. Major subjects of the Congress will cover Prenatal Diagnosis, Preimplantation Genetic Diagnosis, Non Invasive Prenatal Screening, Pharmacogenetics, Genetics and Personalized Medicine, Orphan Diseases, Cancer Genetics, Complex Genetic Disorders, Omics Data and Bioinformatics tools. We hope not only you will find the content of the program scientifically appealing, but also will enjoy being in Edirne, charming and lovely city of Turkey, hosted many cultures in the history. On behalf of Board Members of Medical Genetics Association of Turkey and Balkan Congress Organizing Committee, we will be happy to see you all in Edirne and would like to thank you in advance for your scientific contributions. Prof. Dr. Dijana Plaseska-Karanfilska Prof. Dr. Mehmet Ali Ergun President of Macedonian Society of President of Medical Genetics Human Genetics Association of Turkey 1 BJMG SCIENTIFIC COMMITTE Abdülgani Tatar-Turkey Hung Bui-Sweden Ahmet Arman-Turkey Hülya Kayserili-Turkey Ahmet Dursun-Turkey Ilia ıikerezi-Albania Ahmet Okay Çağlayan-Turkey Ingolf Cascorbi-Germany Ajlan Tükün-Turkey Ivana Novakovic-Serbia Aleksandar Dimovski- e bli a ed nia İlhan Sezgin -Turkey Ales Maver-Slovenia İlter Güney-Turkey Anıl Biri ik- Italy Kadri Karaer-Turkey Arslan Ateş-Turkey Karin Writzl-Slovenia Asude Durmaz-Turkey Kanay Yararbaş-Turkey Ay er Ülgenal -Turkey Kasim Bajrovic-Bosnia and Herzegovina Aynur Acar-Turkey Kıvanç Ce le-Turkey Ayşegül Kaymak-Turkey Lejla Ka r P jskić-Bosnia and Herzegovina Birsen Karaman-Turkey Lyubomir Balabanski-Bulgaria Burak Durmaz-Turkey Mehmet Seven -Turkey B rçak V ral-Turkey eltem Söylev Bajin-Turkey Cengiz Yakı ıer-Turkey eral Yirmibeş Kara ğ z-Turkey Christopher Konialis- Intergenetics -Greece Milena Jankovic -Serbia Constantinos Pangalos-Greece nis Dündar -Turkey Damjan Glavac-Slovenia Na i Çine-Turkey Derya Beyza Sayın Kocakap-Turkey Nur Semerci -Turkey Derya Erçal-Turkey On r Er ğl -Turkey Dijana Plaseska-Karanfilska-Republic of Ozan Çetin-Turkey Macedonia Özgür Ç ğ l -Turkey Draga Toncheva-Bulgaria Öztürk Özdemir -Turkey Dragan Primorac-Croatia Radoslava Vazharova-Bulgaria Dragica Radojkovic-Serbia ıdvan Seçkin Özen-Turkey E. Ferda Perçin-Turkey Rumen Stefanov- Bulgaria Ebr Erz r ml ğl Gökal -Turkey Savina Hadjidekova-Bulgaria Eda Utine-Turkey Seher Başaran -Turkey Emin Karaca-Turkey Sev an T ğ B zd ğan-Turkey Emine Berrin Yüksel-Turkey Sevilhan Artan-Turkey Er an ıhçı-Turkey Sibel Uğ r İşeri -Turkey Fethi Sırrı Çam Sonja Pavlovic-Serbia Gökay B zk rt-Turkey Şehime Temel-Turkey Gözde Yeşil-Turkey Tim r T n alı-Turkey Grigor Zoraqi-Albania Tommaso Beccari-Italy Hakan Gürkan-Turkey Uğ r Özbek-Turkey Hal k Akın-Turkey Uğ r Sezerman-Turkey Hal k T al ğl -Turkey Vangelis G. Manolopoulos-Greece Hati e Ilgın hi -Turkey V lkan Balta ı-Turkey Haydar Bağış-Turkey Yasemin Alanay-Turkey Hilmi T zkır -Turkey Yusuf Tunca-Turkey 2 BJMG ORGANISING COMMITTEE Mehmet Ali Ergun ehmet Alikaşi ğl Zehra Oya Uyguner Beyhan Durak Aras Ayça Ayk t Alt ğ K ç Taha Bahsi Uğ r Özbek İlter Güney Hakan Gürkan Hilmi T zkır LOCAL COMMITTEE /SECRETARY Selma Demir Emine İkbal Atlı Sinem Yalçınte e Engin Atlı 3 BJMG 13. Balkan Congress of Human Genetics Scientific Programme 17 APRIL 2019 –WEDNESDAY 14:00-16:30 Pre-Congress Courses 1: Risk Assessment in Cancer and Genetic Counseling Chair: Ajlan Tükün- Uğur Özbek 14.00-14.30 Breast and Ovary Cancer Risk Assesment and Management Dijana Plaseska-Karanfilska 14.30-15.00 Gastro Intestinal Cancers Risk Assesment and Management Timur Tuncalı 15.00-15.30 Familial Cancer and Risk Assessment Ozan Çetin 15.30-16.30 Case Discussion Kanay Yararbaş-Ayşegül Kaymak-Esra Arslan Ateş 14:00-16:30 Pre-Congress Courses 2: Principles of Clinical Genetic Applications in Reproductive Medicine Chair: Rıdvan Seçkin Özen 14:00-16:30 Pre-Congress Courses 3: Epigenetics of Cancer Chair: Selvihan Artan Ebru Erzurumluoğlu Gökalp 14:00-16:30 Pre-Congress Courses 4: Principles of Pharmacogenetics Chair: İlter Güney 14:00-14:45 Pharmacogenetics of Drug Metabolising Enzymes and Membrane Transporters Ingolf Cascorbi 14:45-15:30 Pharmacogenetic Tests Vangelis G. Manolopoulos 15:30-16:30 Discussion 16:30-17:00 COFFEE BREAK 4 BJMG 17:00-17:15 Opening Ceremony Mehmet Ali Ergün - Turkey Dijana Plaseska-Karanfilska - Republic o Macedonia Protocol Opening Conference Chairs: Mehmet Ali Ergun- Mehmet Alikaşi oğlu 17:15-18:00 Prenatal Diagnosis from Past to Future The Hung Bui-Sweden 18 APRIL 2019 –THURSDAY Hall A Panel Prenatal Genetics and Reproduction Chairs: Seher Başaran- Derya Erçal 9:00-9:30 Pitfalls of Non-invasive Prenatal Tests The Hung Bui-Sweden 9:30-10:00 Preimplantation Genetic Testing: Current Applications and Future Perspectives Anıl Biricik- Italy 10:00-10:30 Microarray Based Prenatal Diagnosis Altuğ Koç-Turkey 10:30-11:00 COFFEE BREAK Hall A Hall B Panel Panel Precision Medicine Genetics of Complex Disorders Chairs: Zehra Oya Uyguner-İlter Güney Chairs: Munis Dündar- Sevilhan Artan 11:00-11:30 Bottlenecks and Challenges of Clinical Lysosomal Enzymes in Parkinson’s Variant Interpretation in the Era of Disease Precision Medicine 5 BJMG Christopher Konialis -Greece Tommaso Beccari-Italy 11:30-12:00 Translation of Experience in Genome GBA Associated Parkinson’s Disease: and Personalized Medicine From Global Resemblance to Local Differences Draga Toncheva-Bulgaria Milena Jankovic -Serbia 12:00-12:30 Pharmacogenetics and Precision Medicine in Medical Education Ingolf Cascorbi-Germany 12:30-13:00 LUNCH 13:00-13:50 Satellite Meeting- GEN-ERA Chairs: Ayça Aykut Boutros Maroun, PhD - illumina Evolution of Genetic Disease Testing & the Future of WGS for Rare Disease Panel Panel Role of Disciplines in Precision Role of Disciplines in Cancer Medicine Chairs: Kıvanç Ce le - Beyhan Durak Aras Chairs: Gökay Bozkurt - Meral Yirmibeş Karaoğuz - Hakan Gürkan 14:00-14:30 Pharmacogenetics of Anticoagulants Multi-gene Panel Testing in Breast Vangelis G. Manolopoulos-Greece Cancer Management Dijana Plaseska-Karanfilska -Republic o Macedonia 14:30-15:00 Pharmacogenomics and Molecular Aspects of Colorectal Cancer Pharmacotranscriptomics of Acute Clinical Management Leukemia in Children: A path to Personalized Medicine Aleksandar Dimovski-Republic of Macedonia Sonja Pavlovic-Serbia 15:00-16:00 COFFEE BREAK Panel Panel Novel Therapies for Genetic Diseases Clinical Implementation of Genomics 6 BJMG Chairs: Özgür Çoğulu- Hatice Ilgın from Research to Bedside Ruhi- Ercan Mıhçı Chairs: Ahmet Okay Çağlayan- Haluk Akın 16:00-16:30 Down Syndrome Treatment Highlights of Genomic NGS Applications in Prenatal and Postnatal Diagnosis of Yasemin Alanay-Turkey Genetic Disorders: Current State of the Art Constantinos Pangalos - Greece 16:30-17:00 Gene Therapy in Neuromuscular In vitro Procedures for Genome Analysis Diseases Savina Hadjidekova-Bulgaria Haluk Topaloğlu-Turkey 17:00-17:30 Leber’s Hereditary Optic Neuropathy Prospective of Genetics Testing and Genetic Councilling for Mental Disorders Meltem
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