Welcome

2014 Golden Helix Summer School

"Pharmacogenomics and Genomic Medicine - Bridging research and the clinic"

11-15 September 2014

Apollo Resort hotel, Aegina island, GREECE

We are pleased to welcome you to the 2014 Golden Helix Summer School that will be held in the beautiful island of Aegina, close to Athens, Greece, 11-15 September 2014. The theme of the 2014 Golden Helix Summer School is "Pharmacogenomics and Genomic Medicine: Brigding research and the clinic" and will revolve around the most important disciplines of Genomic Medicine. Over 20 internationally renowned speakers from around the world form the prestigious faculty of this Summesr school, who will deliver timely updates in their area of expertise, including but not limited to:

- Pharmacogenomics,

- Whole genome sequencing,

- High throughput genome analysis,

- Genomics research and genomic medicine

- Genome data interpretation,

- Ethics in genetics,

- Public health genomics, and

- Economic evaluation in genomic medicine.

Also, we have enriched the scientific program of this 2014 Golden Helix Summer school with a career development session at the last day of this event, in which 7 members of the Faculty will engage into lively discussions with the summer school participants about issues related to carrer advancement.

Apart from the high quality scientific program, the 2014 Golden Helix Summer School offers an attractive social program that includes a visit to the ancient temple of AFEA and its adjacent museum, 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 Aegina, Greece next September and to a very fruitful and stimulating conference.

The 2014 Golden Helix Summer School Organizing Committee

Co-organized by:

Endorsed by:

Important dates

Registration and abstract submission deadline: July 18th, 2014

Notification of abstract acceptance: August 15th, 2014

Cancellation deadline: August 1st, 2014

Registration fees

590 EUR (on the basis of a double room)
690 EUR (on the basis of a single room)

Registration fees include: Accommodation in a double room for the entire duration of the summer school (4 nights), meals (breakfast, coffee breaks, lunches, dinners, welcome reception and farewell traditional party), educational material (course syllabus, abstract book), excursion to the AFEA archaeological site and museum

Venue

2014 Golden Helix Summer School Venue

The venue of the 2014 Golden Helix summer school is the pollo Resort hotel, situated in an ideal location in the bay of Aghia Marina, by the seaside, surrounded by a pine forest bordering with the classical temple of Afea.

The hotel was designed in Modern Greek style and its furnishings comply with the requirements of this style. Its lounges are extremely spacious, with ample views to the garden, swimming pool and the sea. The hotel offers a tennis court, a mini golf course and table tennis facilities that are situated in the forested area of the hotel. Water sports are also available on the beach of Aghia Marina 10 minutes away from the hotel for those wanting to enjoy the crystal clear waters of the sea in a more active manner. Apollo Resort hotel is an ideal location for conferences and workshops. Its proximity to Athens and the quiet atmosphere of its surroundings guarantee the success of these events. The conference hall is equipped with all necessary equipment. Meetings take place overlooking the bright blue waters of the Aegean and attendants can enjoy a rich buffet during their breaks in a privately owned outdoors area.

Speakers

Organizing committee

George P. Patrinos (Patras, Greece)

Milan Macek Jr (Prague, Czech Republic)

Effy Vayena (Zurich, Switzerland)

Summer School instructors

Emmanouil Dermitzakis (Geneva, Switzerland)

Vita Dolan (Ljubljana, Slovenia)

Nduna Dzimiri (Riyadh, Saudi Arabia)

Maurizio Ferrari (Milan, Italy)

Ivo Gut (Barcelona, Spain)

Douglas R. Higgs (Oxford, United Kingdom)

Evgenia Kartsaki (Heraklion, Greece)

Theodora Katsila (Patras, Greece)

Sotiria Kechagia (Geneva, Switzerland)

Judit Kumuthini (Cape Town, South Africa)

Kleanthi Lakiotaki (Heraklion, Greece)

Ming Ta Michael Lee (Yokohama, Japan)

Max van Min (Utrecht, the Netherlands)

Milan Macek Jr (Prague, Czech Republic)

Clint Mizzi (Msida, Malta)

George P. Patrinos (Patras, Greece)

George Potamias (Heraklion, Greece)

Olaf Riess (Tbingen, Germany)

Alessio Squassina (Cagliari, Italy)

Ron H. van Schaik (Rotterdam, the Netherlands)

Effy Vayena (Zurich, Switzerland)

Athanassios Vozikis (Piraeus, Greece)

Bauke Ylstra (Amsterdam, the Netherlands)

Branka Zukic (Belgrade, Serbia)

Scientific Program

Day 1 - Thursday, 11 September 2014

08:00 - 14:30 Arrivals AND Delegates registration

SESSION 1 Chairperson: G. Patrinos

14:30 - 14:45 2014 Golden Helix Summer School coordinators

Introduction

14:45 - 15:15 George P. Patrinos (Patras, Greece)

Genomic Medicine in the global village

15:15 - 15:45 Emmanouil Dermitzakis (Geneva, Switzerland)

From population and personalized genomics to personalized medicine

15:45 - 16:15 Coffee break

16:15 - 17:30 WORKSHOP 1 RD-CONNECT

A. Milan Macek (Prague, Czech Republic)

European genetics and rare disease initiatives

B. Ivo Gut (Barcelona, Spain)

RD-Connect: A database for rare disorders research

C. Olaf Riess (Tubingen, Germany)

RD-Neuromics: -omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases: An EU-funded FP7 project

17:30 18:15 POSTER SESSION 1 (Abstracts PO.01-PO.07)

18:15 19:30 DAY ENDS FREE TIME

19:30 - 22:30 Welcome reception

Day 2 Friday, 12 September 2014

08:00 09:30 Breakfast

09:30 11:00 Abstract presentations1 Chairperson: S. Pavlovic

FT-01. Vesna Spasovski (Belgrade, Serbia)

The first extracellular loop of the PTCH1 protein: a true hot spot for PTCH1 gene?

FT-02. Irena Glumac (Belgrade, Serbia)

High WT1 expression as a new molecular marker of poor prognosis in Serbian Acute Myeloid Leukemia patients with normal karyotype (AML-NK)

FT-03. Danijela Drakulic (Belgrade, Serbia)

Characterization of the 22q11.2 region in patients with clinical features of 22q11.2 deletion syndrome

FT-04. Nataa Kovaevi-Grujii (Belgrade, Serbia)

Antitumor effect of Meripilus giganteus Karst. methanolic extract via upregulation of p53, BAX and SOX1 expression in HeLa cells

FT-05. Danijela Stanisavljevic (Belgrade, Serbia)

SOX14 expression during retinoic acid induced neural differentiation of pluripotent embryonal carcinoma stem cells

FT-06. Adrijana Klajn (Belgrade, Serbia)

Overexpression effects neural differentiation of human pluripotent NT2/D1 cells

FT-07. Milena Milivojevic (Belgrade, Serbia)

Functional characterisation of novel dominant-negative mutant of the human SOX18 protein

FT-08. Biljana Stankovic (Belgrade, Serbia)

Inflammatory bowel disease in Serbian population: association of proinflammatory gene variants with the disease and their combined contribution in the prediction of disease development

FT-09. Natasa Tosic (Belgrade, Serbia)

Molecular genetic markers as a base for administration of targeted therapy in acute promyocytic leukemia

SESSION 2 Chairperson: B. Ylstra

11:00 11:30 Alessio Squassina (Cagliari, Italy)

Genomics and microarray technology

11:30 12:00 Bauke Ylstra (Amsterdam, the Netherlands)

Spatial copy number heterogeneity and relevance of chromosome 10q deletion in low-grade gliomas by whole genome sequencing

12:00 12:30 Nduna Dzimiri (Riyadh, Kingdom of Saudi Arabia)

The genetic intricacy of treating coronary artery disease

12:30 14:00 Lunch break

SESSION 3 Chairperson: E. Dermitzakis

14:00 - 14:30 Ming Ta Michael Lee (Yokohama, Japan)

Pharmacogenomics and personalized medicine: From basic research to clinical application

14:30 15:00 Ron van Schaik (Rotterdam, the Netherlands)

Clinical pharmacogenomics and genomic medicine

15:00 - 15:30 Vita Dolzan (Ljubljana, Slovenia)

Clinical pharmacogenetic models for translation of pharmacogenetics to clinical practice

15:30- 16:00 Branka Zukic (Belgrade, Serbia)

Pharmacogenomics of 6mercaptopurin treatment in childhood acute lymphoblastic leukemia

16:00 - 16:30 Coffee break

SESSION 4 Chairperson: E. Vayena

16:30 - 17:00 Effy Vayena (Zurich, Switzerland)

Personal Genomics: Clinical and personal utility at an ethical crossroad

17:00 - 17:30 Sotiria Kechagia (Geneva, Switzerland)

Direct-to-Consumer genetic and pharmacogenomic testing: A legal perspective

17:30 18:15 POSTER SESSION 2 (Abstracts PO.08-PO.14)

18:15 19:30 DAY ENDS FREE TIME

19:30 21:00 Dinner

Day 3 - Saturday, 13 September 2014

08:00 09:30 Breakfast

09:30 11:00 Abstract presentations 2 Chairperson: P Danielson

FT-10. Philip Danielson (Denver, CO, USA)

Application of Mass Spectrometry in Forensic Serology

FT-11. Magdalena Stepien (Zurich, Switzerland)

A physicians perspective on direct-to-consumer genetic testing

FT-12. Nantia Flora (Patras, Greece)

Genetic variation as a predictor of smoking behavior

FT-13. Aldesia Provenzano (Florence, Italy)

Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression

FT-14. Sabrina Giglio (Florence, Italy)

Therapeutic implications of novel mutations of RFX6 gene associated with early-onset diabetes

FT-15. JihneBouassida (Tunis, Tunisia)

Screening of CYP1B1 gene in Tunisian patients with Primary Congenital Glaucoma

FT-16. Konstantina Chalikiopoulou (Patras, Greece)

Pharmaco-epigenomic analysis of MAP3K5 gene promoter in -type hemoglobinopathies patients under hydroxyurea treatment

FT-17. Vasiliki Chondrou (Patras, Greece)

Differential molecular profiling of human hematopoietic tissues during human ontogenesis - A hemoglobinopathies therapeutics approach

FT-18. Eleni Dalabira (Patras, Greece)

Pharmacogenomics in Europe: Applications in public health

SESSION 5 Chairperson: A. Squassina

11:00 11:30 Clint Mizzi (Msida, Malta)

Whole genome sequencing and data interpretation in genomic medicine

11:30 12:00 George Potamias (Heraklion, Greece)

Boosting pharmacogenomics: A translational bioinformatics perspective

12:00 12:30 George P. Patrinos (Patras, Greece)

Databases in genomics

12:30 14:00 Lunch break

SESSION 6 Chairperson: G. Potamias

14:00 14:30 Athanassios Vozikis (Piraeus, Greece)

Cost-effectiveness and cost-utility analysis in genomic medicine

14:30 15:00 Judit Kumuthini (Cape Town, South Africa)

Sustainable capacity development in personalized medicine

15:00 15:30 Coffee break

15:30 16:15 CORPORATE LECTURE CERGENTIS

Max van Min (Utrecht, the Netherlands)

Targeted locus amplification

16:15 17:30 WORKSHOP 2 eMoDiA

A. Theodora Katsila (Patras, Greece)

Pharmacogenomics Initiatives : eMoDiA

B. George Potamias (Heraklion, Greece)

Towards an electronic PharmacoGenomics Assistant (ePGA)

C. Evgenia Kartsaki (Heraklion, Greece)

Pharmacogenomic Translation Service

D. Kleanthi Lakiotaki (Heraklion, Greece)

A Pharmacogenomics Dashboard of 1000 Genomes Project

17:30 19:30 DAY ENDS FREE TIME

19:30 21:00 Dinner

Day 4 Sunday, 14 September 2014

08:00 09:00 Breakfast

09:00 12:00 Visit at the AFEA archaeological site and museum

12:30 14:00 Lunch break at Aghia Marina

SESSION 7 Chairperson: M. Ferrari

14:00 14:30 Maurizio Ferrari (Milan, Italy)

How to improve molecular diagnostic literacy in developing countries

14:30 15:00 George P. Patrinos (Patras, Greece)

Public Health Genomics: From concept to reality

15:00 15:30 Coffee break

15:30 17:00 Abstract presentations 3 Chairperson: T Katsila

FT-19. Cristiana Pavlidis (Patras, Greece)

Whole genome sequencing analysis of a Greek family affected by Adamantiades-Behcet disease

FT-20. Eleni Merkouri-Papadima (Patras, Greece)

Identification of genomic variants leading to Amyotrophic Lateral Sclerosis Causes in Greek population using a whole genome sequencing approach

FT-21. Katja Goriar (Ljubljana, Slovenia)

Clinical-pharmacogenetic model for prediction of treatment outcome in malignant mesothelioma

FT-22. Barbara Jenko (Ljubljana, Slovenia)

The pharmacogenetic model of influence of transporters polymorphisms and clinical factors on methotrexate inefficacy in rheumatoid arthritis patients

FT-23. Maria Manica-Cattani (Santa Maria, Brazil)

Guaran and its main bioactive molecules modulates differentially D. melanogaster transcriptome

FT-24. Kleanthi Lakiotaki (Heraklion, Greece)

Towards a pharmacogenomics information system for personalized medicine

FT-25. Evangelia-Eirini Tsermpini (Patras, Greece)

Role of the rs6313 and rs1799978 variants as pharmacogenomic biomarkers in Greek, Italian and Croatian schizophrenia patients

FT-26. Konstantinos Siatis (Patras, Greece)

Development of a novel tumor homing compound targeting selectively glioblastoma cells

FT-27. Zoi Zagoriti (Patras, Greece)

Assessment of the STAT4 rs7574865 SNP in genetic susceptibility of early-onset Myasthenia gravis

17:00 17:45 POSTER SESSION 3 (Abstracts PO.15-PO.21)

17:45 19:00 DAY ENDS FREE TIME

19:00 22:00 Farewell Dinner Traditional Party

Day 5 Monday 15 September 2014

08:00 09:30 Breakfast

09:30 10:45 Career development session

Vita Dolzan (Ljubljana, SI; Chairperson)

Sonja Pavlovic (Belgrade, RS)

Emmanouil Dermitzakis (Geneva, CH)

Judit Kumuthini (Cape Town, ZA)

A. Nazli Basak (Istanbul, TR)

Philip Danielson (Denver, CO, USA)

Nduna Dzimiri (Riyadh, SA)

THE EMBO LECTURE Chairperson: G. Patrinos

10:50 11:00 Introduction

11:00 11:45 Douglas R. Higgs (EMBO Member, Oxford, UK)

Switching genes on and off during differentiation and development

BEST ABSTRACT SESSION Chairperson: G. Patrinos

11:45 12:00 Best Abstract 1 M Bartsakoulia, V Boczonadi, A Gomez-Duran, P Yu W Man, P F Chinnery, R Horvath (Newcastle, UK)

Studying the effect of L-cysteine in MELAS and MERRF

12:00 12:15 Best Abstract 2 S Pavlovic, B Stanic, J Kostic, N Pejanovic, B Lucic, N Tosic, I Glumac, D Janic, L Dokmanovic, S Jankovic, N Suvajdzic Vukovic, D Tomin, B Mihaljevic, M Todorovic, J Jelicic, D Krstajic, M Popovic, I Bogicevic, M Stojiljkovic (Belgrade, Serbia)

Next-generation sequencing analysis of hematological malignancies: Serbian experience

12:15 12:30 Summer School coordinators

Conclusions

12:30 Delegates departure