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:
WelcomeVenueSpeakersScientific ProgramSponsorsGalleryDownloadsHuman 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:
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.
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
