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H.H. SHEIKH HAMDAN BIN RASHID AL MAKTOUM
Deputy Ruler of Dubai
UAE Minister of Finance
President of Dubai Health Authority
Patron of the Sheikh Hamdan Award for Medical Sciences
HUGO J (201 ) 5:1–346DOI 10.1007/s11568-011-9151-8
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CONTENTS
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MESSAGES
Dr Hanif Hassan Ali Al Qassim
Minister of Health, UAE Chairman, Board of Trustees,
Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences
It gives me great pleasure to warmly welcome you here to Dubai and the UAE to conduct your important scientific deliberations in the field of human genomics. Your focus on ‘Genomics of Human Diversity and Heritable Disorders’ along with the 4th Pan Arab Human Genetics Conference is extremely relevant and of great consequence globally. It is of particular interest to us here in the Arab region, for as many of you are acutely aware, the prevalence of genetic disorders is disproportionately high in our communities. Many factors contribute to this situation and we are looking forward to working with you in the future to address those factors.
Genetic disorders inflict suffering for people who grapple with the long term effects they impose; chronic illness and disability undermine the lives of many. They also impose significant burdens on families and on our social systems, inflicting tremendous human and economic costs. We must reduce our burdens and find solutions for these conditions. It is essential that the work of the Human Genome Organisation and the Centre for Arab Genomic Studies continue with focus and speed. As we have learned about your organization’s purpose and mission we see some parallels with our own vision for the UAE; it is appropriate for you to have chosen Dubai as your meeting place. Like you, we are focused on building a new future that embraces the best that technology has to offer and we are embedding that technology in the infrastructure – the DNA - of Dubai. What you see as you travel around this city and the UAE are environments in the building stages. Our DNA is shaping our skeletons and backbones, organizing our systems and movements. Our culture and heritage are rich with the foundations of science and discovery. Like you, we embrace these ideas to help us create a healthier future for our people. We welcome you to explore our country and to be greeted by our Arab culture of hospitality and respect.
We congratulate you on your work and your remarkable achievements to advance medical science by developing new technologies and techniques in the field of human genome therapy. We applaud your efforts to help those struggling with previously untreatable disease. Your work is essential to our individual and collective futures. Your work will reshape the health of individuals and populations around the globe. We are honored to have you here with us. Thank you for your commitment and your dedication. We wish you great success in your deliberations here and in your work ahead.
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MESSAGES
Prof Edison T Liu HUGO President Executive Director, Genome Institute of Singapore
I wish to welcome all delegates of the HGM 2011 meeting in Dubai. The focus of this conference is on the next generation of genomic technologies and their impact on heritable disorders. The burden of disease from genetic disorders has been significant in many of the countries in this region. However, as we discover genetic causes of subtle phenotypes the level of this burden may formally rise. We have placed HGM 2011 in the Middle East and in particular in the Gulf States in recognition of the critical mass of talent, the significant advances in infrastructure and capabilties in this region, in addition to the medical need. Indeed, in this conference, Ruth Chadwick from HUGO's Ethics and Society Committee will be presenting the conclusions of the deliberations held in Geneva 2010 on the impact of next generation sequencing in our conceptualization of medicine. In addition, we will be describing the next Pan Asian Personal Genome Project. We have several special symposia and workshops that extend our scientific discussions into economic development, ethics, and global collaborative networks. We wish to highlight these advances at the conference and to have HGM 2011 as a venue to enhance collaborations between regional and international scientists.
The pace of change in genomic medicine has been breathtaking, and HUGO is also changing, reflecting both the nature of genomics sciences, and the interests of our membership. We are more global with greater representation from countries who are new entrants in genomic research, and we are more diverse in what we call our intellectual domain. So we encourage all regional scholars in the genomics and genetics field to join HUGO and make your voices heard. HUGO, as an organisation, is advancing. We have launched a new journal the HUGO Journal which is going into its second issue, we have successfully completed several symposia including one on the Genomics of Breast Cancer in 2010, and our plans for HGM 2012 in Sydney are progressing well. I wish you all an exciting conference.
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MESSAGES
Prof Najib Al Khaja
Secretary General, Sheikh Hamdan Bin Rashid Award for Medical Sciences
President, HGM 2011
I am delighted to welcome you to Dubai to attend the Human Genome Meeting 2011, organized by the Centre for Arab Genomic Studies, on behalf of the Human Genome Organisation.
The theme for HGM 2011 is ‘Genomics of Human Diversity and Heritable Disorders’; always a topical subject, but more so, given the high burden of monogenic disorders in the Arab World. The inspiring program will include special talks, symposia, expert sessions, working summits, special fora, and exhibitions, which will bring together renowned experts, senior and junior investigators and researchers in genomics and related fields to share basic and translational research as well as educational and social issues. In association with the HGM 2011 meeting, the Centre for Arab Genomic Studies is also organizing its Fourth Pan Arab Human Genetics Conference, bringing together a wide platform of regional and international scientists to discuss common issues in human genetics. I hope that this meeting offers ample opportunities for potential collaborations between the delegates. Other satellite meetings organized in conjunction with HGM 2011 and the 4th PAHGC will be aimed at highlighting advancements in genomics and genetic applications in the region.
On behalf of the Local Organizing Committee, the Centre for Arab Genomic Studies and the Sheikh Hamdan Award for Medical Sciences, I thank you for your participation in HGM 2011, and hope that you have an active, stimulating, and enjoyable conference.
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EDITORIALS
Human Genome Organisation
Human Genome Organisation (HUGO) is an international organisation of scientists involved in various aspects of human genetics. HUGO was conceived in 1988 at the first meeting on Genome Mapping and Sequencing at Cold Spring Harbor, New York. From an initial group of 42 scientists from 17 countries, HUGO has increased its membership to over 1,400 members, from over 70 countries in a period of only two decades. Over the years, HUGO has played an essential role behind the scenes for the human genome project. With its mission to promote international collaborative efforts to study the human genome and the myriad issues raised by our increasing knowledge of the genome, HUGO has had noteworthy successes in some of the less glamorous, but nonetheless vital, aspects of the human genome project.
As a truly international organisation, and currently in its 23rd year, HUGO refocused its efforts towards the medical implications of genomic knowledge. Looking forward, HUGO is working to enhance the genomic capabilities of the emerging and developing countries of the world. The excitement and interest in genomic sciences in Asia, the Middle East, South America and Africa are palpable and our hope is that these technologies will help to aid national development and worldwide health.
Mission Statement
> To investigate the nature, structure, function and interaction of the genes, genomic elements and genomes of humans and relevant pathogenic and model organisms;
> to characterise the nature, distribution and evolution of genetic variation in humans and other relevant organisms;
> to study the relationship between genetic variation and the environment in the origins and characteristics of human populations and the causes, diagnoses, treatments and prevention of disease;
> to foster the interaction, coordination, and dissemination of information and technology between investigators and the global society in genomics, proteomics, bioinformatics, systems biology, and the clinical sciences by promoting quality education, comprehensive communication, and accurate, comprehensive, and accessible knowledge resources for genes, genomes and disease; and
> to sponsor factually-grounded dialogues on the social, legal, and ethical issues related to genetic and genomic information and championing the regionally-appropriate, ethical utilisation of this information for the good of the individual and the society.
For further information please visit www.hugo-international.org
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EDITORIALS
Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences
Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences was established in 1999 under the patronage of H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and Minister of Finance & Industry, 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 initial focus of the foundation was on two major categories of awards, the International and National categories. In the international category, there were three sections, the Grand Hamdan Award, three Research Excellence Awards and four awards for volunteers in humanitarian medical services. In subsequent years, an additional category of the Arab World Award was introduced followed by an additional award to the UAE category- an award for the Clinical Department in the public sector. Today, the foundation’s emphasis is on supporting and encouraging scientific research in the UAE with the provision of research grants. This activity has already yielded excellent results with publications in reputable journals.
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 of Arab Genomic Studies to characterize and prevent genetic disorders and transfigure the future practice of health care in the region. Today the centre is having a fully fledged database called CTGA – CATALOGUE FOR TRANSMISSION GENETICS IN ARABS. Further to the development in this field was the formation of the Arab Council which further extended the activities of this centre to the Arab World. It resulted to the completion of UAE, Bahrain, Oman, and Qatar databases, while work on Kuwait is in the process, and is expected to be completed within this year.
Over the years, the awards have created a rich resource of works by leading researchers and doctors from across the world and believed that a journal could be sustain that would be treasured by the medical community. Hence, the Journal of Medical Sciences was born in 2006, and started publishing as a quarterly publication. Three volume issues of the journal have already been published, while the fourth volume issue is in the stands, available in both print and electronic versions. The journal is also in the process of review by PUBMED international and the Chemical Abstracts, indexed with Index Medicus for the Eastern Mediterranean Region (IMEMR).
The foundation is now in the 7th term of awards and besides enriching scientific research, it has an additional objective of enhancing the nature of scientific interaction between doctors in this country and the overseas medical centres. The subjects of the awards are selected carefully to reflect scientific advances made in the subject. The subject for the Grand Hamdan International Award for 2011-2012 is Neonatal Medicine. Hamdan Award for Medical Research Excellence is the second award in the International category and there are 3 subjects selected and will be award to 3 winners. The subjects are “Fetal Medicine, Nutrition in infants and inborn errors of Metabolism. As per the agenda of the awards, evaluation involves determining the factor will be a research breakthrough in the subject selected for the award, having the potential to have a major impact on healthcare delivery. The systematic way of assessing or evaluating the excellent work or individual who have been nominated for the award on the selected subject have been completed for the last 6 terms were very professional. We expect a good number of excellent nominations from various parts of the world for the current term of 2011-2012. For more information and the details including rules & regulations and how to apply for this award, please visit www.hmaward.org.ae.
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EDITORIALS
Centre for Arab Genomic Studies
The Arab World is rich in many genetic disorders; a factor contributed to by the wide-spread norm of consanguinity in the region, selective and environmental factors favoring the persistence of certain genetic traits, and the lack of public awareness towards the early recognition and prevention of inherited disease. As a result, several disease conditions, such as hemoglobin disorders, hypertension, diabetes mellitus, and Down syndrome, among others continue to impact the health system by increased rates of neonatal deaths and morbidity and mortality in children as well as in adults. The pioneering vision of H.H. Sheikh Hamdan Bin Rashid Al Maktoum, Deputy Ruler of Dubai and UAE Minister of Finance, to alleviate human suffering from genetic diseases in the Arab World crystallized in the establishment of the Centre for Arab Genomic Studies (CAGS) on 25 June, 2003. Since then, the Centre has dedicated itself to the mission of improving human health by characterizing and preventing genetic disorders in Arab countries based on the recent advances in human genetics.
The scientific structure of the Centre for Arab Genomic Studies includes two committees:
1. The Executive Board of CAGS is composed of a number of local scientists and it represents the governing body and the legal trustee of all activities of the centre.
2. The Arab Council of CAGS includes regional scientists and it acts as a consultative body and facilitates the exchange of information on genetic disorders occurring in Arab countries. Countries represented in the Council of CAGS currently include: Bahrain, Egypt, Iraq, Jordan, Kuwait, Lebanon, Oman, Palestine, Qatar, Saudi Arabia, Sudan, and Tunisia.
One of the major projects undertaken by CAGS is the Catalogue of Transmission Genetics in Arabs (CTGA) database, which is a continuously updated, open-access compendium of bibliographic material and observations on human gene variants and inherited, or heritable, genetic diseases in Arabs (www.cags.org.ae). As the database covers country after country in what is the largest scientific effort to define genetic disorders in Arab people, a clearer picture of the pattern of genetic disorders and effective strategies to prevent them, is emerging. Currently, the database hosts entries for nearly 955 genetic disorders and 373 related genes.
CAGS regularly comes out with open access publications, aimed at both the scientific community as well as the public. The Centre’s major publication has been its series of books on “Genetic Disorders in the Arab World”. This compilation is a consequence of CAGS’ work on cataloguing Arab genetic disorders. Thus far, three volumes of these books have been published. CAGS also comes out with articles in scientific journals time and again. At the level of the public, CAGS also published two series of pocket guides on inherited blood disorders and cancers common in the region. These guides contain basic information on the disorders, their causes, and their management, along with some information on the epidemiology of the disease in the Arab World. CAGS has also come out with a handy User’s Guide on the CTGA Database which simplifies the database for the end-user.
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EDITORIALS
One of the major activities of CAGS is to conduct cutting edge research in the field of genetic disorders seen in the Arab World. One example that clearly demonstrates the efforts undertaken by CAGS towards achieving this objective is project related to the identification of a rare skeletal abnormality in an extended consanguineous family in the UAE early in 2005. Scientists at CAGS conducted extensive clinical and molecular analysis for all affected and non-affected family members in collaboration with other international groups. The genetic depiction for this disorder is expected to bring fresh insights to our understanding of the human genome and pave the way for many similar projects in light of the presence of many non-characterized inherited disorders in Arab populations.
The Pan Arab Human Genetics Conference (PAHGC) is a biennial event organized by CAGS every alternate year. This event provides a common platform to bring together regional and international geneticists to share their knowledge and to discuss common issues. Undoubtedly, the organization of this conference series has been a huge contribution of CAGS towards the study on human genetics in the region and this conference has become one of the most awaited events in the calendar of human genetics. The first edition of the conference, held in 2006, was supported by the Human Genome Organisation (HUGO), and attracted more than 500 delegates. This was the first large-scale event on human genetics to be held in the Arab World, and was a tremendous success in terms of providing a platform for various leading geneticists to work out strategies and set the priorities for research aimed at combating the menace of genetic disorders in the region.
In the near future, CAGS shall witness an expansion of all its activities according to the requirements of its working objectives. The CTGA Database is expected to continue its growth and will continue to cover other countries of the region in its effort to catalogue the entire spectrum of genetic disorders in the Arab World. Consequently, additional volumes of the series of books on “Genetic Disorders in the Arab World” shall be made available following the completion of data collection in new Arab countries. Meanwhile, CAGS will expand its research activities directed at understanding the molecular basis of genetic disorders in the Arab populations. Setting up the required infrastructure to launch the Arab Human Variome Project could also be an interesting initiative to explore. The Pan Arab Human Genetics Conference will continue to be organized regularly as a platform to discuss contemporary issues in genetic research pertaining to the priorities of the region. Hosting the Annual Human Genome Meeting (HGM) of the HUGO in Dubai is another feather in the cap for CAGS, and is expected to provide a significant boost to genetic research in the region.
The support of H.H. Sheikh Hamdan Bin Rashid Al Maktoum has been instrumental in achieving most of the Centre’s objectives. This support has been further reinforced with the establishment of a CAGS genetics award to honor individuals and institutions working in the field with an aim to encourage genetic research in the Arab World. Surely, this task will bring CAGS closer to its mission to build sustainable research activities based upon education and improvement of human health in the Arab World.
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HGM 2011 INTERNATIONAL SCIENTIFIC COMMITTEE
HGM 2011 PRESIDENT
Najib Al Khaja
HUGO PRESIDENT
Edison T Liu
MEMBERS
Anthony J Brookes
David R Cox
Gerardo Jimenez-Sanchez
Stephen W Scherer
Elspeth Bruford
Hanan Hamamy
Dhavendra Kumar
Mark McCarthy
Stylianos E Antonarakis
Vernonica Van Heyningen
Martin Vingron
Mahmoud Taleb Al Ali
Lihadh Al-Gazali
Fahd Al-Mulla
Moien Kanaan
Ghazi O Tadmouri
Samir K Brahmachari
Yoshihide Hayashizaki
Elza Khusnutdinova
Doron Lancet
Felix Jin Li
Edison T Liu
Todd Taylor
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HGM 2011 ORGANIZING COMMITTEE
CHAIRMAN
Mahmoud Taleb Al Ali
Centre for Arab Genomic Studies
VICE-CHAIRMAN
Abdulla Bin Sougat Sheikh Hamdan Awards for Medical Sciences
MEMBERS
Diana Hon Joeline Khoo Jasmine Ong Ashton Quek
HUGO
Ghazi O Tadmouri Pratibha Nair
Tasneem Obeid Moncy Philip
Centre for
Arab Genomic Studies
Wael AbuDhaif Amany ElOkda Sujathan R Nair
Sheikh Hamdan Award for Medical Sciences
Karen Smith
Dubai World Trade Centre
Medhat Nassar Manuela Marchetti
Karen Pereira Eman Radwan
Lina Alaa Al Deen Nazmi
Meeting Minds
Karina Lance
Dubai Convention Bureau
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ACKNOWLEDGMENTS
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GENERAL INFORMATION
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GENERAL INFORMATION
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GENERAL INFORMATION
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GENERAL INFORMATION
fin
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GENERAL INFORMATION
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GENERAL INFORMATION
Banks
Business Hours
Exchange Houses
Climate
Clothing
Credit Cards
Currency
Language
Alcohol
Local Time
Photography
Media
Communication
”
Medical
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GENERAL INFORMATION
Bargaining
Tipping and Gratuities
Electricity
Water
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MAPS
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PROGRAM AT A GLANCE
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14 MARCH 2011 FULL PROGRAM
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15 MARCH 2011 FULL PROGRAM
Venue: Rashid A Venue: Maktoum A Venue: Maktoum B & C
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15 MARCH 2011 FULL PROGRAM
Venue: Maktoum A Venue: Maktoum B &C
Venue: Rashid A
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15 MARCH 2011 FULL PROGRAM
Venue: Maktoum B & C
Venue: Maktoum B & C
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16 MARCH 2011 FULL PROGRAM
Venue: Rashid A Venue: Maktoum B & C
Venue: Maktoum A
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16 MARCH 2011 FULL PROGRAM
Venue: Maktoum A Venue: Rashid A
Venue: Maktoum B & C
Venue: Maktoum B & C
Venue: Maktoum B & C
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17 MARCH 2011 FULL PROGRAM
Venue: Rashid A Venue: Maktoum A Venue: Maktoum B & C
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17 MARCH 2011 FULL PROGRAM
Venue: Maktoum A Venue: Rashid A
Venue: Maktoum B & C
Venue: Maktoum B & C
- - -
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PANEL OF INTERNATIONAL SPEAKERS
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14 MARCH 2011 OPENING KEYNOTE LECTURE
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14 MARCH 2011 FEATURED TALK
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14 MARCH 2011 FEATURED TALK
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14 MARCH 2011 FEATURED TALK
five
flect
influence
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ls”
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15 MARCH 2011 CONCURRENT SYMPOSIUM: RNA AND EPIGENETICS
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15 MARCH 2011 CONCURRENT SYMPOSIUM: GENOMIC MEDICINE
genome”
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15 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF HERITABLE DISORDERS
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sion”
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genomics”
”
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15 MARCH 2011 CONCURRENT WORKING SUMMIT: CONVERGING TECHNOLOGIES IN GENOMICS - OPPORTUNITIES FOR A GLOBAL ECONOMY
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15 MARCH 2011 CONCURRENT WORKING SUMMIT: CONVERGING TECHNOLOGIES IN GENOMICS - OPPORTUNITIES FOR A GLOBAL ECONOMY
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15 MARCH 2011 CONCURRENT WORKING SUMMIT: GLOBAL AND REGIONAL INITIATIVES PAN ASIAN PERSONAL GENOMICS INITIATIVES
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”
t.”
genomes”),
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15 MARCH 2011 CONCURRENT WORKING SUMMIT: GLOBAL AND REGIONAL INITIATIVES CENTRE FOR ARAB GENOMIC STUDIES
union” ”
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15 MARCH 2011 CONCURRENT WORKING SUMMIT: GLOBAL ETHICAL AND LEGAL CHALLENGES IN GENOMICS AND GENETICS
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s”
t”.
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sis”
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16 MARCH 2011 CONCURRENT SYMPOSIUM: INBORN ERRORS OF METABOLISM AND THERAPY OF GENETIC DISORDERS
sures”.
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e”
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ance”
ce”
e”
rts”)
”
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96 HUGO J (2011) 5:1–346
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16 MARCH 2011 CONCURRENT SYMPOSIUM: CANCER GENOMICS
o”
HUGO J (2011) 5:1–346 97
123
16 MARCH 2011 CONCURRENT SYMPOSIUM: CANCER GENOMICS
98 HUGO J (2011) 5:1–346
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITY
HUGO J (2011) 5:1–346 99
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITY
100 HUGO J (2011) 5:1–346
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITY
HUGO J (2011) 5:1–346 101
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITY
102 HUGO J (2011) 5:1–346
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITY
HUGO J (2011) 5:1–346 103
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: COMPUTATIONAL ANALYSIS OF GENOMIC INFORMATION
104 HUGO J (2011) 5:1–346
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: COMPUTATIONAL ANALYSIS OF GENOMIC INFORMATION
HUGO J (2011) 5:1–346 105
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: COMPUTATIONAL ANALYSIS OF GENOMIC INFORMATION
106 HUGO J (2011) 5:1–346
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: COMPUTATIONAL ANALYSIS OF GENOMIC INFORMATION
HUGO J (2011) 5:1–346 107
123
16 MARCH 2011 CONCURRENT EXPERT SESSION: THE HUMAN VARIOME PROJECT AND THE ARAB COUNTRIES
108 HUGO J (2011) 5:1–346
123
16 MARCH 2011 FEATURED TALK
HUGO J (2011) 5:1–346 109
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
110 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
HUGO J (2011) 5:1–346 111
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
112 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
HUGO J (2011) 5:1–346 113
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
114 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASE
”,
HUGO J (2011) 5:1–346 115
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
116 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
HUGO J (2011) 5:1–346 117
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
s”
118 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
HUGO J (2011) 5:1–346 119
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
120 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
005)”log” ion”
HUGO J (2011) 5:1–346 121
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERS
fold”
122 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
HUGO J (2011) 5:1–346 123
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
124 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
⁄αα ⁄αα
HUGO J (2011) 5:1–346 125
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
126 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
HUGO J (2011) 5:1–346 127
123
17 MARCH 2011 CONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERS
128 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SPECIAL FORUM: GENOME SEQUENCING LANDMARK TECHNOLOGIES
HUGO J (2011) 5:1–346 129
123
17 MARCH 2011 CONCURRENT SPECIAL FORUM: GENOME SEQUENCING LANDMARK TECHNOLOGIES
130 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CONCURRENT SPECIAL FORUM: GENOME SEQUENCING LANDMARK TECHNOLOGIES
HUGO J (2011) 5:1–346 131
123
17 MARCH 2011 CONCURRENT SPECIAL FORUM: GENOME SEQUENCING LANDMARK TECHNOLOGIES
132 HUGO J (2011) 5:1–346
123
17 MARCH 2011 RIKEN SESSION: EXPANDED UNIVERSE OF SINGLE CELL BIOLOGY
HUGO J (2011) 5:1–346 133
123
17 MARCH 2011 RIKEN SESSION: EXPANDED UNIVERSE OF SINGLE CELL BIOLOGY
134 HUGO J (2011) 5:1–346
123
17 MARCH 2011 RIKEN SESSION: EXPANDED UNIVERSE OF SINGLE CELL BIOLOGY
”
ions”
HUGO J (2011) 5:1–346 135
123
17 MARCH 2011 FEATURED TALK
136 HUGO J (2011) 5:1–346
123
17 MARCH 2011 CLOSING KEYNOTE LECTURE
HUGO J (2011) 5:1–346 137
123
138 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 139
123
PANEL OF INTERNATIONAL CHAIRPERSONS
140 HUGO J (2011) 5:1–346
123
”.
HUGO J (2011) 5:1–346 141
123
142 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 143
123
eo”
144 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 145
123
146 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 147
123
148 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 149
123
150 HUGO J (2011) 5:1–346
123
ls”
”
HUGO J (2011) 5:1–346 151
123
152 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 153
123
The new biology.Driving the transformation of bioscience
with single molecule real-time detection.
THE KNOWN PARADIGMOF HUMAN BIOLOGY.
The PacBioRS
154 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 155
123
POSTER PRESENTATIONS
156 HUGO J (2011) 5:1–346
123
TRAVEL AWARDS
HUGO J (2011) 5:1–346 157
123
158 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 159
123
160 HUGO J (2011) 5:1–346
123
CANCER GENOMICS
χ
χ
HUGO J (2011) 5:1–346 161
123
162 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 163
123
164 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 165
123
166 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 167
123
168 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 169
123
170 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 171
123
172 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 173
123
CLINICAL GENETICS
174 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 175
123
176 HUGO J (2011) 5:1–346
123
COMPUTATIONAL GENOMICS AND ANALYSIS OF HUMAN DISEASE
HUGO J (2011) 5:1–346 177
123
178 HUGO J (2011) 5:1–346
123
”
HUGO J (2011) 5:1–346 179
123
180 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 181
123
xt” ”
182 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 183
123
184 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 185
123
186 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 187
123
GENETIC ASSOCIATION STUDIES
188 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 189
123
190 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 191
123
192 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 193
123
194 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 195
123
GENETICS OF CARDIOVASCULAR AND METABOLIC DISORDERS
196 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 197
123
198 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 199
123
”
es”
GENETICS OF DEAFNESS AND NEUROLOGICAL DISORDERS
200 HUGO J (2011) 5:1–346
123
ke”
ke”
HUGO J (2011) 5:1–346 201
123
202 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 203
123
”
204 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 205
123
206 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 207
123
208 HUGO J (2011) 5:1–346
123
GENETICS OF HERITABLE DISORDERS
HUGO J (2011) 5:1–346 209
123
210 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 211
123
212 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 213
123
214 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 215
123
216 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 217
123
218 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 219
123
220 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 221
123
222 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 223
123
224 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 225
123
226 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 227
123
228 HUGO J (2011) 5:1–346
123
2012”.
HUGO J (2011) 5:1–346 229
123
230 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 231
123
232 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 233
123
234 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 235
123
236 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 237
123
238 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 239
123
240 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 241
123
242 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 243
123
244 HUGO J (2011) 5:1–346
123
GENOME DATABASES
HUGO J (2011) 5:1–346 245
123
246 HUGO J (2011) 5:1–346
123
”,
HUGO J (2011) 5:1–346 247
123
GENOME SEQUENCING
248 HUGO J (2011) 5:1–346
123
GENOME VARIATION AND PERSONALISED MEDICINE
HUGO J (2011) 5:1–346 249
123
ses”.
se”
250 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 251
123
252 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 253
123
254 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 255
123
a”,
s””
assured”
ons”
”
256 HUGO J (2011) 5:1–346
123
”
GENOMIC MEDICINE
HUGO J (2011) 5:1–346 257
123
258 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 259
123
260 HUGO J (2011) 5:1–346
123
HPText Box
HUGO J (2011) 5:1–346 261
123
” ” ”
ck”
262 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 263
123
ence”
264 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 265
123
266 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 267
123
268 HUGO J (2011) 5:1–346
123
� � �
HUGO J (2011) 5:1–346 269
123
270 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 271
123
272 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 273
123
274 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 275
123
276 HUGO J (2011) 5:1–346
123
GENOMICS AND THE BIOECONOMY
HUGO J (2011) 5:1–346 277
123
GENOMICS AND THE DEVELOPING WORLD
278 HUGO J (2011) 5:1–346
123
GLOBAL AND REGIONAL INITIATIVES
HUGO J (2011) 5:1–346 279
123
280 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 281
123
282 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 283
123
284 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 285
123
GLOBAL ETHICAL AND LEGAL CHALLENGES
s”
” ”
HOST RESPONSE IN INFECTIOUS DISEASES
286 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 287
123
INBORN ERRORS OF METABOLISM
288 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 289
123
NEW STRATEGIES IN QUANTITATIVE PHENOTYPING
290 HUGO J (2011) 5:1–346
123
REGULATION OF GENOMIC SERVICES AND PRODUCTS
genomics”
”,
HUGO J (2011) 5:1–346 291
123
e” i
RNA AND EPIGENETICS
292 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 293
123
flo rofluidic
294 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 295
123
”
296 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 297
123
298 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 299
123
300 HUGO J (2011) 5:1–346
123
STATISTICAL GENETICS
HUGO J (2011) 5:1–346 301
123
302 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 303
123
304 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 305
123
306 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 307
123
308 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 309
123
310 HUGO J (2011) 5:1–346
123
THERAPY OF GENETIC DISORDERS
HUGO J (2011) 5:1–346 311
123
EXPEDITED ABSTRACTS
312 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 313
123
314 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 315
123
AUTHOR INDEX
316 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 317
123
318 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 319
123
320 HUGO J (2011) 5:1–346
123
� �
HUGO J (2011) 5:1–346 321
123
322 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 323
123
324 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 325
123
326 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 327
123
�
328 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 329
123
COUNTRY INDEX
330 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 331
123
KEYWORD INDEX
332 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 333
123
334 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 335
123
336 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 337
123
338 HUGO J (2011) 5:1–346
123
HUGO J (2011) 5:1–346 339
123
NOTES
340 HUGO J (2011) 5:1–346
123
NOTES
HUGO J (2011) 5:1–346 341
123
NOTES
342 HUGO J (2011) 5:1–346
123
NOTES
HUGO J (2011) 5:1–346 343
123
NOTES
344 HUGO J (2011) 5:1–346
123
NOTES
HUGO J (2011) 5:1–346 345
123
NOTES
346 HUGO J (2011) 5:1–346
123
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1 4thpahgc Front2 4thpahgcHGM 2011 Programme Abstract BookMESSAGESEDITORIALSHGM 2011 INTERNATIONAL SCIENTIFIC COMMITTEEACKNOWLEDGMENTSGENERAL INFORMATIONMAPSPROGRAM AT A GLANCEFULL PROGRAMPANEL OF INTERNATIONAL SPEAKERSOPENING KEYNOTE LECTUREFEATURED TALKCONCURRENT SYMPOSIUM: RNA AND EPIGENETICSCONCURRENT SYMPOSIUM: GENOMIC MEDICINECONCURRENT SYMPOSIUM: GENETICS OF HERITABLE DISORDERSCONCURRENT WORKING SUMMIT: CONVERGING TECHNOLOGIES IN GENOMICS - OPPORTUNITIES FOR A GLOBAL ECONOMYCONCURRENT WORKING SUMMIT: GLOBAL AND REGIONAL INITIATIVES PAN ASIAN PERSONAL GENOMICS INITIATIVESCONCURRENT WORKING SUMMIT: GLOBAL AND REGIONAL INITIATIVES CENTRE FOR ARAB GENOMIC STUDIESCONCURRENT WORKING SUMMIT: GLOBAL ETHICAL AND LEGAL CHALLENGES IN GENOMICS AND GENETICSFEATURED TALKCONCURRENT SYMPOSIUM: FROM GENOME VARIATION TO PERSONALISED MEDICINECONCURRENT SYMPOSIUM: INBORN ERRORS OF METABOLISM AND THERAPY OF GENETIC DISORDERSCONCURRENT SYMPOSIUM: CANCER GENOMICSCONCURRENT EXPERT SESSION: MECHANISM OF GENOME SEQUENCING - SETUP AND OPERATIONS OF A FACILITYCONCURRENT EXPERT SESSION: COMPUTATIONAL ANALYSIS OF GENOMIC INFORMATIONCONCURRENT EXPERT SESSION: THE HUMAN VARIOME PROJECT AND THE ARABCOUNTRIESFEATURED TALKCONCURRENT SYMPOSIUM: COMPUTATIONAL BIOLOGY AND STATISTICAL GENETICS FOR THE ANALYSIS OF HUMAN DISEASECONCURRENT SYMPOSIUM: GENETICS OF DEAFNESS & NEUROLOGIC DISORDERSCONCURRENT SYMPOSIUM: ADVANCES IN GENETICS OF HERITABLE DISORDERSCONCURRENT SPECIAL FORUM: GENOME SEQUENCING LANDMARK TECHNOLOGIESRIKEN SESSION: EXPANDED UNIVERSE OF SINGLE CELL BIOLOGYFEATURED TALKCLOSING KEYNOTE LECTUREPANEL OF INTERNATIONAL CHAIRPERSONSPOSTER PRESENTATIONSTRAVEL AWARDSCANCER GENOMICSCLINICAL GENETICSCOMPUTATIONAL GENOMICS AND ANALYSIS OF HUMAN DISEASEGENETIC ASSOCIATION STUDIESGENETICS OF CARDIOVASCULAR AND METABOLIC DISORDERSGENETICS OF DEAFNESS AND NEUROLOGICAL DISORDERSGENETICS OF HERITABLE DISORDERSGENOME DATABASESGENOME SEQUENCINGGENOME VARIATION AND PERSONALISED MEDICINEGENOMIC MEDICINEGENOMICS AND THE BIOECONOMYGENOMICS AND THE DEVELOPING WORLDGLOBAL AND REGIONAL INITIATIVESGLOBAL ETHICAL AND LEGAL CHALLENGESHOST RESPONSE IN INFECTIOUS DISEASESINBORN ERRORS OF METABOLISMNEW STRATEGIES IN QUANTITATIVE PHENOTYPINGREGULATION OF GENOMIC SERVICES AND PRODUCTSRNA AND EPIGENETICSSTATISTICAL GENETICSTHERAPY OF GENETIC DISORDERSEXPEDITED ABSTRACTSAUTHOR INDEXCOUNTRY INDEXKEYWORD INDEXNOTES
3 4thpahgc Back
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/CreateJDFFile false /Description > /Namespace [ (Adobe) (Common) (1.0) ] /OtherNamespaces [ > /FormElements false /GenerateStructure false /IncludeBookmarks false /IncludeHyperlinks false /IncludeInteractive false /IncludeLayers false /IncludeProfiles false /MultimediaHandling /UseObjectSettings /Namespace [ (Adobe) (CreativeSuite) (2.0) ] /PDFXOutputIntentProfileSelector /DocumentCMYK /PreserveEditing true /UntaggedCMYKHandling /LeaveUntagged /UntaggedRGBHandling /UseDocumentProfile /UseDocumentBleed false >> ]>> setdistillerparams> setpagedevice