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Messages • UAE Minister of Health • President of the Conference & Chairperson, Scientific Committee • Scientific Director Organizational Profiles • Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences • Centre for Arab Genomic Studies • Golden Helix Institute Conference Committees • Organizing Committee • Scientific Committee Scientific Program Abstracts • Keynotes • Lectures • Posters Workshop • RD-Connect Indices • Author Index • Keyword Index • Country Index Sponsors’ Profiles HE Abdul Rahman Mohammed Al Owais UAE Minister of Health Chairman, Board of Trustees, Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences 4 MESSAGESMESSAGES It has been a decade since the establishment of the Centre for Arab Genomic Studies, under the aegis of the Sheikh Hamdan Award for Medical Sciences. Through the past ten years, the Centre has worked tirelessly towards its mission of reducing the burden of genetic diseases in the Arab World. Indeed, the field of study of human genetics has changed significantly in the past decade, and this is reflected in the shift in the activities of the Centre as well. Under the able patronage of HH Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai, and UAE Minister of Finance, the Centre has blossomed from being a local repository of information on genetic diseases to an international hub of resources pertaining to genetic disorders in the Arab World. This growth is in line with the UAE strategic plan implemented under the wise leadership of HH Sheikh Khalifa Bin Zayed Al Nahyan, President of the United Arab Emirates, HH Sheikh Mohammed Bin Rashid Al Maktoum, Vice-President and Prime Minister of the United Arab Emirates and the Ruler of Dubai, and Their Highnesses Members of the Supreme Council of Rulers of the Emirates. Foremost of the services offered by the Centre is the Catalogue for Transmission Genetics in Arabs (CTGA) Database, which has grown steadily to become the largest ethnic based database on genetic disorders in the World. Alongside this, the Centre has organized a series of scientific conferences and workshops which have attracted numerous scientists and researchers in this field. The 5th Pan Arab Human Genetics Conference is the latest addittion in this well-establishment tradition of conferences. I welcome all the participants of this conference to Dubai and hope you have a successful and enlightening conference meeting. Abdul Rahman Mohammed Al Owais 5 Prof. Najib Al-Khaja Dr. Mahmoud Taleb Al Ali President of the Conference Chairperson, Scientific Committee 6 MESSAGESMESSAGES It gives us great pleasure to welcome you to the 5th Pan Arab Human Genetics Conference (PAHGC). First of all, we would like to thank you for your continued interest and participation in the conference. Through the organization of the PAHGCs, the Centre for Arab Genomic Studies (CAGS) has successfully brought together diverse regional and international expertise on human medical genetics, and created a platform for discussion and mutual collaboration on issues relevant to researchers, medical professionals, and patients in this region. CAGS happens to be celebrating its tenth anniversary this year, and we are doubly proud to bring you the 5th edition of the conference in this special year with the theme ‘Genomics Into Healthcare’. The response and participation towards the PAHGC seems to grow with every edition. We have received over 170 abstracts for presentation at this conference. These presenters come not only from across the Arab World, but also from many other countries in Asia, Europe, and North America. The large number of abstracts received has, in fact, necessitated the use of parallel sessions, in order to accommodate the maximum number of presentations. The quality of these abstracts keeps increasing, and we are fairly confident in saying that this year’s conference program is capable of rivaling other international genetics conference. A constellation of prominent international and local geneticists will set the tone for the conference with their oral presentations. The program will see lectures on topics ranging from contemporary issues, such as cancer genetics and epigenetics to the role of genomics in public health. There will also be sessions dealing with the latest technologies in genetics research, such as next generation sequencing. In addition, each day of the conference will witness poster sessions, providing an opportunity for the participants to have a more detailed interaction with young researchers in this field. RD-Connect, a global project linking up databases, registries, and biobanks related to rare disease research, will host a special session highlighting their efforts in creating a central bioinformatics resource for rare disease researchers worldwide. Special thanks are due to the Organizing and Scientific Committees of the conference, who have worked hard to bring this conference to fruition. We would also like to thank the members of the Arab Council and Executive Board of CAGS, who have guided and helped us over the years. We hope that you enjoy and benefit from the many sessions that the conference has to offer, and find time to network with other participants of the conference. Najib Al-Khaja Mahmoud Taleb Al Ali 7 Dr. George P. Patrinos Scientific Director; The Golden Helix Foundation, London, United Kingdom 8 MESSAGESMESSAGES We are very pleased to welcome you to Dubai for the joint 5th Pan Arab Human Genetics Conference and the 2013 GOLDEN HELIX Symposium® with the theme “Genomics into Healthcare”. Genomic Medicine is expected to play a pivotal role in future medical practice. Recognizing the challenges that are emerging from the recent advances in genomics and their impact on human health, this joint conference features lectures by several internationally renowned scientists and covers all aspects of this field, including recent developments from deciphering the human genome, genomics of rare disorders, pharmacogenomics, next-generation sequencing, cancer and population genomics and the requirements to bring genomics in the clinic. The Golden Helix Symposia® are international high-profile scientific conferences in the field of genomic medicine, organized by the Golden Helix Foundation, a registered UK-charity aiming to catalyze collaborative research and to promote knowledge transfer and education in the area of genomic medicine. This year, the 2013 Golden Helix Symposium® will be held jointly with the 5th Pan-Arab Human Genetics Conference, the most prestigious scientific conference on human genetics in the Arab world that provides a platform for regional and international researchers and professionals in genetics to have a constructive dialogue and share their views. This joint conference is the result of a fruitful collaboration between scientists from the Center for Arab Genomic Studies and the Golden Helix Foundation and the generous support from H H Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences. We are committed to setting the highest standard for symposia in the field of human genomics and personalized medicine, and look forward to a very successful conference and, at the same time, to experience the warmth of Arab hospitality in the beautiful city of Dubai. George P. Patrinos 9 Organizational Profiles 11 Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences 12 Centre for Arab Genomic Studies 13 Golden Helix Institute 10 OrganizationalOrganizational Profiles Profiles Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences On the 10th of April 1999, the late Sheikh Maktoum Bin Rashid Al Maktoum, UAE Vice President, and Prime Minister and Ruler of Dubai, issued the Supreme Decree No. (5) to establish the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, with the objective of honouring scientists from every part of the world who tirelessly pursue distinctive medical research that serves the larger interests of humanity. The Board of Trustees and the General Secretariat of Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences was formed on the 1st of May 1999, under the directives of H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and Minister of Finance. Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences is one of the most outstanding awards from the GCC countries, and has consistently acted as a motivating force towards promoting the medical services by honouring the scientists and the distinct working parties in academic and therapeutic scopes alongside with medical and humanitarian services all over the world. The Award clearly recognizes the importance of scientific research in boosting the progress of UAE, and plays a proactive role in funding domestic health researches through a pioneering program. The Award has proved to be widely successful, as it has been recognized by international observers and was testified by leading researchers vying for the award. This success reflects on the foundation’s international reputation and its high scientific credibility and level of performance. www.hmaward.org.ae 11 Centre for Arab Genomic Studies In the Arab World, genetic diseases represent a major public health problem. The vision of H.H. Sheikh Hamdan Bin Rashid Al Maktoum to alleviate human suffering from genetic diseases in the Arab World crystallized in the establishment of the Centre for Arab Genomic Studies (CAGS) to characterize and prevent genetic disorders and transfigure the future practice of health care in the region. Some of the priority objectives