“Rare Genomics: Genomics of Rare Diseases, Rare Cancers and Rare Drug Outcomes”
26-30 September 2018
We are pleased to announce the 2018 Golden Helix Summer School that will be held in the island of Syros, Greece, the capital of the Cyclades islands in the Aegean archipelago. The 2018 Golden Helix Summer School will be organized in September 2018 and the theme of the Summer School will be “Rare Genomics: Genomics of Rare Diseases, Rare Cancers and rare Drug Outcomes” and will revolve around the application of the most important disciplines of Genomic Medicine, such as Genome discovery, informatics, Public Health, and drug design in Rare Diseases, Cancer and Pharmacogenomics.
Also, we have enriched the scientific program of this 2018 Golden Helix Summer school with a career development and three interactive sessions, where members of the Faculty will engage into lively discussions with the summer school participants about issues related to career advancement and key topics related to the theme of this meeting, respectively.
Apart from the high quality scientific program, the 2018 Golden Helix Summer School offers an attractive social program that includes a visit to the Apollo Theater in Hermoupolis, and a traditional farewell dinner, allowing participants to get to know each other in a very informal way.
We have made every effort to minimize the registration fees to encourage participation of researchers from lower-income countries.
We are looking forward to welcoming you to Syros, Greece next September and to a very fruitful and stimulating conference.
The 2018 Golden Helix Summer School Organizing Committee
Co-organized by:
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Approved by:
AboutInvited SpeakersScientific ProgramSponsorsRegistrationGalleryWe are pleased to announce the 2018 Golden Helix Summer School that will be held in the island of Syros, Greece, the capital of the Cyclades islands in the Aegean archipelago. The 2018 Golden Helix Summer School will be organized in September 2018 and the theme of the Summer School will be “Rare Genomics: Genomics of Rare Diseases, Rare Cancers and rare Drug Outcomes” and will revolve around the application of the most important disciplines of Genomic Medicine, such as Genome discovery, informatics, Public Health, and drug design in Rare Diseases, Cancer and Pharmacogenomics.
Also, we have enriched the scientific program of this 2018 Golden Helix Summer school with a career development and three interactive sessions, where members of the Faculty will engage into lively discussions with the summer school participants about issues related to career advancement and key topics related to the theme of this meeting, respectively.
Apart from the high quality scientific program, the 2018 Golden Helix Summer School offers an attractive social program that includes a visit to the Apollo Theater in Hermoupolis, and a traditional farewell dinner, allowing participants to get to know each other in a very informal way.
We have made every effort to minimize the registration fees to encourage participation of researchers from lower-income countries.
We are looking forward to welcoming you to Syros, Greece next September and to a very fruitful and stimulating conference.
The 2018 Golden Helix Summer School Organizing Committee
Co-organized by:
Approved by:
1. Spiros AGATHOS (San Miguel de Urcuqui, Ecuador)
2. Bassam R. ALI (Al-Ain, UAE)
3. Darrol J. BAKER (London, UK)
4. James BUCHANAN (Oxford, UK)
5. Vita DOLZAN (Ljubljana, Slovenia)
6. Paolo FORTINA (Philadelphia, PA, USA)
7. Ivo GUT (Barcelona, Spain)
8. Peter-Bram ‘t HOEN (Nijmegen, the Netherlands)9
9. Magnus INGELMAN-SUNDBERG (Stockholm, Sweden)
10. Federico INNOCENTI (Chapel Hill, NC, USA)
11. Theodora KATSILA (Patras, Greece)
12. Alexandros KANTERAKIS (Patras, Greece)
13. George P. PATRINOS (Patras, Greece)
14. Natalie PANKOVA (London, UK)
15. Sonja PAVLOVIC (Belgrade, Serbia)
16. Gabriela REPETTO (Santiago, Chile)
17. Yolande SAAB (Byblos Lebanon)
18. Daniela STEINBERGER (Frankfurt, Germany)
19. Dimitrios SYNODINOS (Paris, France)
20. Jan TRAEGER-SYNODINOS (Athens, Greece)
21. Elena TZANIKOU (Athens, Greece)
22. Konstantinos VOSKARIDES (Nicosia, Cyprus)
23. Marc S. WILLIAMS (Danville, PA, USA)
24. Janet WILLIAMS (Danville, PA, USA)
25. Branka ZUKIC (Belgrade, Serbia)
FINAL SCIENTIFIC PROGRAM
Day 1 – Wednesday, 26 September 2018
08:00 – 14:20 ARRIVALS AND REGISTRATION
14:20 – 14:30 INTRODUCTION
SESSION 1 – GENOMICS TECHNOLOGIES (Chair: Federico Innocenti)
14:30 – 15:00 Paolo FORTINA
Professor; Thomas Jefferson University, Kimmel Cancer Center, Philadelphia, PA, USA
From genetic testing to genomic testing: Technologies and approaches in cancer profiling
15:00 – 15:30 Branka ZUKIC
Senior Researcher, University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia
Determination of rare genomic variants leading to acute lymphoblastic leukaemia using next-generation sequencing
15:30 – 16:00 COFFEE BREAK
16:00 – 17:30 WORKSHOP 1 (Darrol BAKER) – HUMAN GENOME INFORMATICS
Director, The Golden Helix Foundation, London, UK
17:30 – 19:30 DAY ENDS – FREE TIME
19:30 – 21:30 WELCOME RECEPTION
Day 2 – Thursday, 27 September 2018
08:00 – 09:30 BREAKFAST
SESSION 2 – PHARMACOGENOMICS AND INDIVIDUALIZED TREATMENT (Chair: Paolo Fortina)
09:30 – 09:50 Federico INNOCENTI
Associate Professor and Associate Director; University of North Carolina, Center for Pharmacogenomics and Individualized Therapy, Chapel Hill, NC, USA
Safety of drug treatment in oncology: A genomic perspective
09:50 – 10:10 George P. PATRINOS
Associate Professor, University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece; Full Member and National Representative, European Medicines Agency, CHMP-Pharmacogenomics Working Party, London, UK
Pre-emptive pharmacogenomics testing in the psychiatric clinic
10:10 – 10:30 Yolande SAAB
Assistant Professor, American University in Lebanon, Byblos, Lebanon
Implementing Pharmacogenomics in the Middle East
10:30 – 11:00 COFFEE BREAK
KEYNOTE LECTURE 1
11:00 – 11:45 Magnus INGELMAN-SUNDBERG
Professor; Pharmacogenetics group, Department of Physiology and Pharmacology, Karolinska Universitet, Stockholm, Sweden
Pharmacogenomics advise in the future: Role of next-generation sequencing and rare variants
11:45 – 12:15 Vita DOLZAN
Professor; University of Ljubljana, Laboratory of Pharmacogenomics, Ljubljana, Slovenia
The Ubiquitous Pharmacogenomics project
12:15 – 12:30 Q&A session
12:30 – 14:30 LUNCH BREAK
14:30 – 16:00 FLASH TALKS (Chair: George P. Patrinos)
FT.01 – Revealing discrepancies in guidelines for genome-guided therapeutic interventions among different research consortia and regulatory bodies
S. Koutsilieri, F. Tzioufa, G. P. Patrinos
FT.02 – Triangulating human microbiome with genes and drugs for clinical pharmacogenomics: where do we stand and how to move forward?
A. Balasopoulou, I. Tsagaraki, G. P. Patrinos, T. Katsila
FT.03 – Cost-effectiveness analysis of pharmacogenomics-guided clopidogrel treatment in Spanish patients undergoing percutaneous coronary intervention
V. Fragoulakis, M. Bartsakoulia, X. Diaz, C. Chalikiopoulou, C. Kehagia, J. G. Sánchez-Ramos, L. J. Martínez-Sánchez, M. Gkotsi, E. Katrali, E. Skoufas, A. Vozikis, A. John, B. R. Ali, S. Wordsworth, C. L. Dávila-Fajardo, T. Katsila, G. P. Patrinos, C. Mitropoulou
FT.04 – ZBTB7A conservation in primates establishes its significance as an epigenetic treatment predictor for β-hemoglobinopathies
V. Chondrou, G. P. Patrinos, A. Papachatzopoulou, A. Sgourou
FT.05 – Spectrum and clinical manifestations of mutations in PIEZO1
K. Maciak, A. Adamowicz-Salach, A. Siwicka, T. Urasinski, B. Burzynska
FT.06 – Selected genomic variants in TNF-alpha, IL10, LTA and IRF4 genes may account for overlapping susceptibility between non-Hodgkin lymphoma and paediatric celiac disease patients of Hellenic origin
A. Panagiotara, M. Krini, K. Spanou, A. John, B. R. Ali, M. Kanariou, N. Constantinidou, G. Chrousos, E. Roma, G. P. Patrinos, T. Katsila
FT.07 – Liquid biopsies in clinical practice: Early detection of imatinib resistance subclones in GIST patients
C. DalleFratte, M. Guardascione, A. Buonadonna, L. Foltran, R. Loredana, E. De Mattia, G. Toffoli, E. Cecchin
FT.08 – Preparative DNA concentration by epitachophoresis
F. Foret, V. Datinska, I. Voracova, P. Gheibi, J. Berka, Y. Astie
FT.09 – Rare variant of FAP- GAPPS syndrome with severe risk of gastric polyposis and adenocarcinoma with a need for gastrectomy – a high frequency in the Czech Republic
L. Foretova, M. Navratilova, M. Svoboda, J. Hazova, P. Vasickova, E. Stahlova-Hrabincova, E. Machackova
FT.10 – Next-generation sequencing to identify rare variants related to FL-toxicity
F. Ecca, E. De Mattia, F. Serra, R. Roncato, E. Dreussi, L. Romanato, A. Buonadonna, A. De Paoli, M. Berretta, E. Mini, S. Nobili, G. Toffoli, E. Cecchin
FT.11 – Dissimilar integrated developmental culturomics as a multi-task regulative hub for macrobiotic applications
M. E. Kambouris, A. Stathoulias, S. Vassilakis, Y. Manoussopoulos, G. P. Patrinos
SESSION 3 – GLOBAL INITIATIVES IN GENOMICS
16:00 – 16:30 George P. PATRINOS
Associate Professor, University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece
Global initiatives in Genomic Medicine: The Global Genomic Medicine Collaborative and the Genomic Medicine Alliance
16:30 – 17:00 Gabriela REPETTO
Director, Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile
Genomic initiatives on Rare Diseases in Latin America
17:00 – 19:30 DAY ENDS – FREE TIME
19:30 – 22:30 DINNER
Day 3 – Friday, 28 September 2018
08:00 – 09:30 BREAKFAST
SESSION 4 – GENOME INFORMATICS (Chair: Darrol J. Baker)
09:30 – 10:00 Alexandros KANTERAKIS
Senior Scientist; University of Patras Department of Pharmacy, Patras, Greece; Institute of Computer Science, Foundation of Research hand Technology Hellas, Heraklion, Greece
Improving clinical genetics pipelines with automatic inference of chromosomal positions from HGVS and dbSNP variants
10:00 – 10:30 George P. PATRINOS
Associate Professor, University of Patras School of Health Sciences, Department of Pharmacy, Patras, Greece; Adjunct Scientist; Erasmus University Medical Center Rotterdam, Faculty of Medicine and Health Sciences, Department of Pathology, Bioinformatics Unit, Rotterdam, the Netherlands
Incentivizing genomic data sharing in genomic medicine: The microattribution approach
10:30 – 11:00 COFFEE BREAK
KEYNOTE LECTURE 2
11:00 – 11:45 Ivo GUT
Director; Centro Nacional de Analisis Genomico, CNAG-CRG, Center for Genomic Regulation, Barcelona, Spain
Data integration for rare diseases facilitated by the RD-Connect Genome Phenome Analysis Platform (RD-Connect GPAP)
11:45 – 12:15 Peter-Bram ‘t HOEN
Professor; Radboud University Medical Center, Nijmegen, the Netherlands
FAIR data stewardship to advance rare disease research
12:15 – 12:30 Q&A session
12:30 – 14:30 LUNCH BREAK
SESSION 5 – RARE GENOMICS PARADIGMS (Chair: Theodora Katsila)
14:30 – 15:00 Paolo FORTINA
Professor; Thomas Jefferson University, Kimmel Cancer Center, Philadelphia, PA, USA
Molecular Genetics of heritable skin diseases
15:00 – 15:30 Jan TRAEGER – SYNODINOS
Professor; University of Athens, School of Medicine, Department of Genetics, Athens, Greece
Dealing with a rare disease: The hemoglobinopathies paradigm
15:30 – 16:00 Konstantinos VOSKARIDES
Senior Researcher; University of Cyprus School of Medicine, Nicosia, Cyprus
Familial rare kidney diseases and rare modified variants: The current approach
16:00 – 17:30 WORKSHOP 2 (Theodora KATSILA) – PHARMACOMETABOLOMICS-GUIDED PHARMACOGENOMICS
Senior Scientist and Academic Scholar, Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece
17:30 – 19:30 DAY ENDS – FREE TIME
19:30 – 21:00 DINNER
21:00 TRADITIONAL NIGHT (Folklore dance by the Lyceum for Greek Women of Syros)
Day 4 – Saturday, 29 September 2018
08:00 – 09:30 BREAKFAST
SESSION 6 – PUBLIC HEALTH GENOMICS (Chair: Bassam R. Ali)
09:30 – 10:00 Bassam R. ALI
Professor, United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain, UAE
From mutations to cellular mechanisms and therapies in monogenic disorders
10:00 – 10:30 Sonja PAVLOVIC
Professor and Laboratory Head, Institute of Molecular Genetics and Genetic Engineering, Laboratory of Molecular Medicine, Belgrade, Serbia
Capacity building for rare genomics
10:30 – 11:00 Janet WILLIAMS
Assistant Professor and Director, Research Genetic Counselors, Genomic Medicine Institute, Geisinger, Danville, PA, USA
The challenge of living with rare disorders: Considerations for genetic counselling
KEYNOTE LECTURE 3
11:00 – 11:45 James BUCHANAN
Assistant Professor; University of Oxford, Nuffield Department of Population Health, Health Economics Research Centre, Oxford, UK
The genomics of rare diseases: Improving the health economics evidence base
11:45 – 12:15 Dimitrios SYNODINOS
Treasurer, EURORDIS – Rare Disease Europe, Paris, France
Rare Disease Patient Organisations and Healthcare Stakeholders: The EURORDIS experience
12:15 – 12:30 Q&A session
12:30 – 14:30 LUNCH BREAK
14:30 – 15:30 CAREER DEVELOPMENT SESSION
Moderator: Spiros AGATHOS, Dean, School of Biological and Physical Sciences, YachayTech University (San Miguel de Urcuqui, Ecuador)
Panelists:
Bassam R. ALI, Professor, United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain,
Federico INNOCENTI, Associate Professor and Associate Director; University of North Carolina, Center for Pharmacogenomics and Individualized Therapy, Chapel Hill, NC, USA
Vita DOLZAN, Professor; University of Ljubljana, Laboratory of Pharmacogenomics, Ljubljana, Slovenia
Gabriela REPETTO, Director, Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile
16:00 DEPARTURE FOR HERMOUPOLIS
16:30 – 18:30 GUIDED WALKING TOUR IN HERMOUPOLIS
19:00 RETURN TO THE CONFERENCE VENUE
19:30 – 21:00 FARE WELL DINNER
21:00 SPECIAL PERFORMANCE (by the Stereo Soul band)
Day 5 – Sunday, 30 September 2018
08:00 – 09:30 BREAKFAST
SESSION 7 – CORPORATE LECTURE SESSION (Chair: George P. Patrinos)
09:30 – 10:00 Daniela STEINBERGER
Professor and Medical Director; bio.logis Center for Human Genetics, Frankfurt am Main, Germany
Variant detection and the challenges beyond
10:00 – 10:30 Elena TZANIKOU
Technology Transfer Officer; PHARMASSIST Ltd, R&D Department, Athens, Greece
From laboratory setting to CE molecular diagnostics kit
10:30 – 11:00 Natalie PANKOVA
Chief Operating Officer, Shivom, London, UK
Blockchain-based genomics for precision medicine
KEYNOTE LECTURE 4
11:00 – 11:50 Marc S. WILLIAMS
Professor and Director, Genomic Medicine Institute, Geisinger, Danville, PA, USA
Implementation of a Precision Health Program in a learning healthcare system
11:50 – 12:20 BEST ABSTRACT SESSION
AA.01 – Development of an integrated health IT platform for a precision medicine setting
C. DalleFratte, R. Roncato, L. Dal Cin, F. Comello, A. Bignucolo, L. Giollo, S. D’Errico, L. Emili, V. Carbone, M. Guardascione, E. De Mattia, G. Toffoli, E. Cecchin
Experimental and Clinical Pharmacology Unit CRO-National Cancer Institute, Aviano, Italy
AA.02 – Application of next-generation sequencing technology and establishment of Biobanks
K. Klaassen, M. Stojiljkovic, N. Tosic, B. Zukic, S. Pavlovic
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
AA.03 – Trp53 signaling in chemically induced lung adenocarcinoma
M. Oplopoiou, D. Kati, G. Ntaliarda, I. Giopanou, V. Papaleonidopoulos, I. Lilis, G. T. Stathopoulos
Laboratory for Molecular Respiratory Carcinogenesis, Department of Physiology, Faculty of Medicine, University of Patras, Rio, Achaia, Greece
12:20 – 12:30 Summer School coordinators – Conclusions
12:30 DELEGATES DEPARTURE
SECRETARIAT:
September 26th, 2018: 12:00 – 17:30
September 27th, 2018: 09:30 – 13:30
September 28th, 2018: 11:00 – 13:00
September 29th, 2018: 11:00 – 13:00
September 30th, 2018: 12:30 – 14:30
Sponsors
We thank the following academic, charitable and corporate entities for generously supporting this event.
Gold Sponsors
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Silver Sponsors
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Other Sponsors
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Communication sponsors
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*** ABSTRACT SUBMISSION DEADLINE EXTENDED TO JULY 21ST, 2018 ***
Registration for this event is closed.
