Welcome

2013 Golden Helix Symposium - 5th Pan Arab Human Genetics Conference

"Genomics into Healthcare"

Al Bustan Rotana Hotel, 17-19 November 2013, Dubai, United Arab Emirates

Under the patronage of His Highness Sheikh Hamdan Bin-Rashid Al Maktoum, Deputy Ruler of Dubai, Minister of Finance (UAE)

It gives us great pleasure to invite you, on behalf of the Organizing Committee, to the joint 5th Pan Arab Human Genetics Conference (PAHGC) and the Golden Helix Symposium 2013, with the theme Genomics Into Healthcare.
The previous editions of the Pan Arab Human Genetic Conference endeavored to bring together diverse expertise and resources pertaining to the field of medical genetics in the Arab World, thereby facilitating multidisciplinary research. These conferences successfully provided a platform for regional and international researchers and professionals in genetics to have a constructive dialogue and share their views. We continue our efforts in this direction with the 5th PAHGC. This edition of the conference will be held jointly with the 2013 Golden Helix Symposium, belonging to an internationally high-profile series of scientific symposia in the field of personalized medicine, organized annually by the Golden Helix Institute of Biomedical Research.
The conference will focus on topics ranging from cancer genomics and NexGen sequencing to molecular profiling and pharmacogenomics. International and regional experts will take to the platform to deliver their lectures on these topics. We are also encouraging researchers to submit their abstracts for oral or poster presentation at the conference. Also, a special feature of the conference will be a workshop on rare disorders.

We look forward to your presence and active participation at the 5th PAHGC, to be held between the 17th and 19th of November, 2013 at Dubai, United Arab Emirates.

Prof. Najib Al Khaja
President of the Conference

Co-organized by:

Endorsed by:

Venue

2013 Golden Helix Symposium Venue

The venue of the 2013 Golden Helix Symposium is the Al Bustan Rotana hotel.

The hotel features a unique blend of traditional Arabian hospitality and modern luxury. This 5 Star hotel in Dubai offers luxury accommodation and is an ideal choice for discerning business and leisure travellers. Also, with the state-of-the-art Conference facilities is one of the top destination for scientific meetings in the UAE.

Speakers

Organizing Committee

Najib Al Khaja; Secretary General, Sheikh Hamdan Award for Medical Sciences; President, Centre for Arab Genomic Studies; President, Organizing Committee

Mahmoud Taleb Al-Ali; Director, Centre for Arab Genomic Studies; Head, Genetics Centre, Dubai Health Authority; Chairperson, Scientific Committee

Abdulla Bin Souqat; Executive Director, Sheikh Hamdan Award for Medical Sciences

Abdul Rezzak Hamzeh; Senior Scientific Coordinator, Centre for Arab Genomic Studies

George P. Patrinos; Associate Professor (Pharmacogenomics), University of Patras (Greece) National representative, CHMP Pharmacogenomics Working Party, European Medicines Agency (London, UK)

Paolo Fortina; Professor of Cancer Biology and Medical Oncology, Thomas Jefferson University,
Philadelphia,USA Head, Cancer Genomics Laboratory, Kimmel Cancer Center

Federico Innocenti; Associate Professor (Pharmacotherapy and Experimental Therapeutics), UNC Eshelman School of Pharmacy, University of North Carolina, USA

Larry J. Kricka; Professor (Pathology and Laboratory Medicine), University of Pennsylvania, USA; Director, General Chemistry Laboratory and Critical Care Laboratory, University of Pennsylvania Medical Center

Invited Speakers

Aida Al Aqeel (Riyadh, Kingdom of Saudi Arabia)

Erol Baysal (Dubai, UAE)

Angela Brand (Maastricht, the Netherlands)

Habiba Chaabouni (Tunis, Tunisia)

Lotfi Chouchanne (Doha, Qatar)

David N. Cooper (Cardiff, UK)

Radoje Drmanac (Mountain View, CA, USA)

Maurizio Ferrari (Milan, Italy)

Achilleas Gravanis (Heraklin, Greece)

Hanan Hamamy (Geneva, Switzerland)

Douglas R Higgs (Oxford, UK)

Moien Nihad Kanaan (Bethlehem, Palestine)

Milan Macek Jr (Prague, Czech Republic)

Ahmad Al Marzouqi, Dubai, UAE)

Andre Megarbane (Beirut, Lebanon)

Fahd Al Mulla (Safat, Kuwait)

Mohammed Naveed (Abu Dhabi, UAE)

George P. Patrinos (Patras, Greece)

Anna Rajab (Muscat, Oman)

Abdul Rezzak Hamzeh (Dubai, UAE)

Olaf Riess (Tuebingen, Germany)

Hilger Ropers (Berlin, Gremany)

Ron H. van Schaik (Rotterdam, the Netherlands)

Vasilis Vasiliou (Denver, CO, USA)

Jun Wang (Beijing, China)

Scientific Program

Day 1 - Sunday, November 17, 2013

09:00 09:45 Registration

Keynote Session, Chairperson: Mahmoud Taleb Al Ali

09:45 10:30 Keynote lecture, David N. Cooper, Cardiff University, UK

The Molecular Basis of Reduced Penetrance in Human Inherited Disease

10:30 11:30 Opening Ceremony

Session 1: Cancer Genomics and Epigenetics, Chairpersons: Mouza Al-Sharhan, Paolo Fortina

11:30 12:00 Lotfi Chouchanne, Weill Cornell Medical College, Qatar

Breast Cancer in Arab Populations: Molecular Characteristics and Disease Management Implications

12:00 12:15 Muhammad Malik

Role of sema3C in breast cancer progression and its effects on cancer cells proliferation, adhesion and invasion

12:15 12:30 Ismail Alhwij

A novel method to identify imprinted genes in nasopharyngeal carcinoma pathogenesis

Lunch Break

Session 2: Genomic and Epigenomic Studies, Chairpersons: Ghazi Tadmouri, Moeen Al Sayed

13:30 14:00 Ahmad Al Marzouqi, UAE University, UAE

The Molecular Functions of Chromatin Modifiers

14:00 14:30 Maurizio Ferrari, University Vita-Salute San Raffaele, Italy

High Throughput Genetic Studies and Advanced Functional Analyses of Brugada Syndrome Patients

Session 3: Genomics of Blood and Metabolic Disorders, Chairpersons: Nabil Sulaiman, Abdul Rezzak Hamzeh

14:30 15:00 Erol Baysal, Dubai Health Authority, UAE

Advances in Prenatal Diagnosis of Hemoglobinopathies: Focus on UAE

15:00 15:15 Walid Dridi

Novel Missense mutation in ANKRD26 gene cause Familial Thrombocytopenia

15:15 15:30 Karsten Suhre

Genetically influenced metabotype and human metabolic individuality

Coffee Break and Poster Session 1

16:00 16:30 Douglas R Higgs, Weatherall Institute of Molecular Medicine, UK

The Relationship between Genome Structure and Function: Lessons from the Globin Loci

16:30 17:30 RD-Connect Workshop

- Olaf Riess, University Hospital Tuebingen, Germany

NeurOmics: -omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases an EU-funded FP7 project

- Milan Macek Jr, Charles University Prague, Czech Republic

European initiatives on Human Genetics

- George P. Patrinos, University of Patras, Department of Pharmacy, Patras, Greece

RD-Connect: A European initiative connecting biobanks, databases and rare disease registries

Day 2 - Monday, November 18, 2013

Session 4: Cytogenetic Diagnosis and Molecular Profiling, Chairpersons: Mansour Al Zarouni, Kemal Khazanehdari

09:00 09:30 Mohammed Naveed, H.H. Sheikh Sultan Bin Khalifa Al Nahyan Humanitarian & Scientific Foundation, UAE

Search for the Genetic Modifiers of Disease Severity in Tibial Hemimelia in a large multigenerational Arab Family: Progress and Future Directions

09:30 10:00 Anna Rajab, Ministry of Health, Oman

Prevalence of Congenital and Genetic Disorders in the Sultanate of Oman: Steps towards Genetic Service Needs Assessment

Coffee Break and Poster Session 2

10:30 10:45 Amal Al Hashem

A distinct clinical phenotype associated with ATP1A2 gene mutation

10:45 11:00 Suzan Roshdi Ismail

Advantages of FISH in the Diagnosis of Cytogenetics Abnormalitiesf

11:00 11:30 Cristina Skrypnyk

ECARUCA The online database for rare chromosome disorders

11:30 12:00 Abdul Rezzak Hamzeh, Center for Arab Genomic Studies, Dubai , UAE

A Success Story of the Centre for Arab Genomic Studies at its 10th Anniversary - the CTGA Database: Challenges and Prospects

12:00 12:30 Industry Symposia: Fiona Sara Togneri

Changing the face of Patient Diagnostics: Affymetrix Solutions

Lunch break

Session 5: Next Generation Sequencing, Chairpersons: Andre Megarbane, George P. Patrinos

13:30 14:00 Radoje Drmanac, Complete Genomics Inc, USA

Next-Generation Sequencing in the Clinic: Enabling Genomic Medicine

14:00 14:30 Jun Wang, BGI, China

Personal Genomes are Personalized

14:30 15:00 Fahd Al Mulla, Kuwait University, Kuwait

Next Generation Sequencing, Genomic Medicine and You

15:00 15:30 Hilger Ropers, Max Planck Institute for Molecular Genetics, Germany

Elucidation, Diagnosis and Prevention of Intellectual Disability: Meeting the Challenge

Coffee Break and Poster Session 3

Session 6: Consanguinity and Hereditary Diseases, Chairpersons: Rabah Shawky, Sadika Al Awadi

16:00 16:30 Moien Nihad Kanaan, Bethlehem University

Massively Parallel Sequencing Identification of Novel Genes and Mutations for Breast Cancer and Hereditary Hearing Loss in Palestine

16:30 16:45 Rami Abou Jamra

Mutation in EZR inhibits the Ras/MAP pathway and causes autosomal recessive intellectual disability

16:45 17:00 Zafar Nawaz

Chromosomal microarray as a first-tier clinical diagnostic test for children with dysmorphology, malformations, developmental delay and idiopathic mental retardation: GCC experiences

17:00 17:30 Hanan Hamamy, Geneva University Hospital, Switzerland

Consanguineous marriages: past, present and future trends in counseling

Day 3 - Tuesday, November 19, 2013

Session 7: Clinical Genomics, Chairpersons: Moiz Bakheit, Moeen Al Sayed

09:00 09:30 Aida Al Aqeel, Armed Forces Hospital, Kingdom of Saudi Arabia

Recent Advances in Translational Genomics and the Future of Medical Genetics in the Middle East

09:30 10:00 Achilleas Gravanis, University of Crete, Greece

Neurotrophins as Therapeutic Targets for Neurodegenerative Diseases

10:00 10:30 Vasilis Vasiliou, University of Colorado Anschutz Medical Campus, USA

Aldehyde Dehydrogenases as Novel Therapeutic Targets for Metabolic Diseases and Cancer Stem Cells

Coffee break and poster session 4

Session 8a: Clinical Applications and Pharmacogenomics, Chairpersons: Federico Innocenti, Taher Rizvi

11:00 11:30 Ron H. van Schaik, Erasmus University Medical Center, The Netherlands

Clinical Implementation of Pharmacogenomicsics

11:30 12:00 George P. Patrinos, University of Patras, Department of Pharmacy, Patras, Greece

Pharmacogenomics and personalized medicine in the global village

12:00 12:15 Hayat Aljeibeji

The VCORK1 Alleles Involved in the Pharmacogenetics of Warfarin Anticoagulant among Emiratis

12:15 12:30 Reham Milhem

The rescue of cellular trafficking-defective mutants resulting in Congenital Myasthenic Syndrome and Familial Exudative Vitreoretinopathy

Session 8b: Selected Abstracts, Chairpersons: Laila Abdel Wareth, Fatma Bastaki

12:00 12:15 Hussain Abdulla

Role of HCV core protein in expression of the human telomerase reverse transcriptase (hTERT) gene in hepatoma cell lines

12:15 12:30 May Sanyoura

A novel ALMS1 splice mutation in a non-obese juvenile onset insulin-dependent syndromic diabetic patient

12:30 12:45 Rashid Mir

Inactivation of RIZ1 Gene by Promoter Hypermethylation is Associated with Disease Progression and Resistance to Imatinib in Indian Chronic Myelogenous Leukemia Patients: First Study from India

Lunch break

Session 9a: Selected Abstracts, Chairpersons: Ghazi Tadmouri, Emily Niemitz

13:30 13:45 Andre Megarbane

Contribution of copy number variants (CNVs) in congenital unexplained intellectual and developmental disabilities in 149 patients: the first Lebanese study leading to new findings in CNVs

13:45 14:00 Salma Majid

Infantile Ascending Spastic Paralysis caused by a novel ALS2 mutation identified by Homozygosity Mapping

14:00 14:15 Rebecca Buchert

Homozygous mutation in fatty acyl CoA reductase 1 FAR1 causes autosomal recessive intellectual disability with early epilepsy and constipation

14:15 14:30 Salma Ben Salem

Mutations in the DDHD2 gene Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

14:30 14:45 Ilham Ratbi

Documentation of inherited disorders in the Moroccan population in the Moroccan National Mutation database

14:45 15:00 Somayyeh Fahiminiya

Lessons learned from whole exome sequencing data analysis of rare diseases: non-coding variants and copy number variations

15:00 15:15 Hamid Azzedine

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Session 9b: Selected Abstracts, Chairpersons: Makia Marafie, Fatima Al Jassmi

13:30 13:45 Sanaa Outau

Association of APOA5 56C>G gene polymorphism with both hypertriglyceridemia and risk of coronary artery disease (CAD) in Arterial Hypertensive Moroccan patients

13:45 14:00 Ebtesam Abdalla

Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families

14:00 14:15 Renu Saxena

Prenatal Diagnosis of Genetic Disorders in UAE Collaborative Experience of Dubai and Delhi

14:15 14:30 Anette Gjesing

Identification Of Genes Causing Monogenic Diabetes By Deep Sequencing Of Accessible Coding Regions Of The Human Genome

14:30 14:45 Tawfeg Ben-Omran

The Use of Whole Exome Sequencing (WES) to Unravel Disease Genes Causing Autosomal Recessive Disorders in the Population of Qatar

14:45 15:00 Arif Anwar

Identification of Known and Novel Variants Associated with Paediatric Disorders using Whole Exome Sequencing and Array-CGH

15:00 15:15 Nadia Akawi

Whole-Exome Sequencing (WES) Deciphers Rare Recessive Disorders Segregating in Consanguineous Families from the United Arab Emirates (UAE)

Coffee break and poster session 5

Session 10: Genomics in Public Health, Chairpersons: Shaikha Al Arrayed, Larry Kricka

16:00 16:30 Habiba Chaabouni, Hospital Charles Nicolle, Tunisia

Quantification of genome sharing in consanguineous couples with or without affected child by autosomal recessive disease and impact on genetic counseling

16:30 16:45 Rachida Roky

Ethical issues in genomic research and limits of the informed consent

16:45 17:30 Keynote Lecture Angela Brand, University of Maastricht, Institute of Public Health Genomics, Maastricht, the Netherlands

Genomics and Public Health

17:30 Closing Ceremony