The world health organisation (WHO) as well as the European Union (EU)
have recently announced genetic and orphan
diseases as a major health challenge of the
future.
Early diagnosis and treatment by neonatal population screening for inborn errors of metabolism is the most important and successful approach. The International Screening Conference in Doha, Qatar, brings together world-known clinicians and eminent scientists to present and discuss the divergent hot topics in this field from endocrine and metabolic screening programs, detection of haematological disorders to vision and hearing screening.
Beyond exchange of scientific knowledge, this conference will document how newborn screening can and does make a positive contribution at both the individual and the population level.
Qatar metabolic screening program is rated the 3rd worldwide most successful with the unique innovative breakthrough, namely the addition of early homocystinuria test for the first time ever. This was achieved through the collaboration of HMC Qatar and the University of Heidelberg Germany. We feel committed to extend this success to other countries and welcome you all very much to Doha.
Prof. Dr. med. G. F. Hoffmann
Professor and Head of Pediatric Dept
Chairman of Children's Hospital
Subdean, Medical Faculty
University of Heidelberg
Germany
Georg F. Hoffmann
,
M.D., is Professor of Pediatrics at the University of Heidelberg, Germany, Subdean of the Medical Faculty of Heidelberg, Head of the Department of Pediatrics and Chairman of the Children´s Hospital. He has been working in the field of diagnosis and treatment of patients with inherited metabolic diseases for more than 20 years and has published over 275 clinical papers and original research articles as well as over 150 books or book chapters mostly on inherited metabolic diseases.
He is the Editor-in-Chief of the Journals Neuropediatrics and of the Journal of Inherited Metabolic Disease. Day to day he is deeply involved in the diagnosis and treatment of patients suspected of or suffering from Inherited Metabolic Diseases and supervises a well established Neonatal Screening Center as well as a comprehensive specialized laboratory for the diagnosis of inborn errors of metabolism.
Dr.
Hesham M Taha, MD , Egypt
Lecturer of Audiology and Balance Disorders
ENT Department, Faculty of Medicine
Ain Shams University, Cairo, Egypt
Prof. Richard
C. Seewald, Ph.D. , Canada
Professor and Canada Research Chair in Childhood
Hearing
National Centre for Audiology
Faculty of Health Sciences
The University of Western Ontario
London, Ontario, Canada
Dr. Richard Seewald holds a Canada Research Chair in Childhood Hearing at the National Centre for Audiology in London, Ontario. He is also a Professor in the School of Communication Sciences and Disorders, Faculty of Health Sciences, University of Western Ontario. For the past 30 years, Dr. Seewald’s work has been focused on issues that pertain to the selection and fitting of amplification in infants and young children and is known internationally for his work in developing the Desired Sensation Level (DSL) Method for pediatric hearing instrument fitting. In addition to his numerous publications and presentations on pediatric amplification, Dr. Seewald has recently chaired and edited the proceedings from three international conferences on early intervention. Dr. Seewald serves as a Consultant to the Ontario Infant Hearing Program and recently received the International Award in Hearing from the American Academy of Audiology for his contributions to the field though his teaching and research.
·Consultant
in the Genetic Metabolic Diseases Program, Hospital
for Sick Children, Toronto
·Senior
Associate Scientist, Research Institute of the
Hospital for Sick Children
·Professeur
d’enseignement clinique, Centre hospitalier
universitaire de Sherbrooke, Québec, Canada.
Prof.Andreas
E. Kulozik, MD, PhD , Germany
Professor of Pediatrics
Director, Department of Pediatric Oncology,
Hematology and Immunology
Co-Director, University of Heidelberg / EMBL
Molecular Medicine Partnership Unit
University of Heidelberg
Full Professor of Pediatrics at Heidelberg
University, which is linked to being the Head of the
Department of Pediatric Oncology, Hematology and
Immunology. Also co-directing the Molecular Medicine
Partnership Unit, a joint venture of Heidelberg
University and the European Molecular Biology
Laboratory (EMBL).
Holding post-graduate academic degrees in Medicine
(MD) and in the natural sciences (PhD). Holding
post-graduate clinical degrees in Pediatrics, in
Pediatric Oncology, Hematology and Hemostaseology,
in Pediatric Intensive Care, and in Pediatric
Pulmonology.
Professor Martyn Hyde, PhD, Canada Dr Hyde is a Professor in the Departments of Otolaryngology, Public Health Sciences and the Graduate Department of Speech-language Pathology at the University of Toronto. He is a Consultant to the Infant Hearing Program of the Ontario Ministry of Children & Youth Services. His activities include program design and evaluation, test protocol development in screening, diagnostics and high-risk surveillance, diagnostic clinical decision support, technology assessment, intervention outcome measurement, clinical epidemiology and evidence review for all program aspects, from screening through to services for pre-school language and literacy development.
Dr. Bradford Therrell, Jr., Ph.D. , USA is the director of the National Newborn Screening and Genetics Resource Center (NNSGRC) and a professor in the Department of Pediatrics at the University of Texas Health Science Center at San Antonio. Prior to assuming the directorship of the NNSGRC, Dr. Therrell worked for the Texas Department of Health Bureau of Laboratories where he managed newborn screening and other biochemical screening programs for over 25 years. Dr. Therrell was one of the founding members of the International Society for Neonatal Screening serving as its first Secretariat and later as President. He was awarded the prestigious Guthrie Award by the Society in 2000 for outstanding international contributions in newborn screening. He has been actively involved in providing reviews and expert advice to newborn screening programs in the U.S. as part of the activities of the Health Resources and Services Administration and in assisting developing countries as part of the activities of the International Atomic Energy Agency.
Dr. Therrell earned a bachelor’s degree in chemistry from Mississippi College, and master’s and doctorate degrees in inorganic chemistry from Florida State University. In 1997, he was granted an honorary M.D. by Kunming Medical College in Kunming, China for his outstanding contributions to improving pediatric health outcomes through newborn screening. He has edited several books and book chapters and authored over 120 scientific articles in the areas of public health policy, computerization, automation, chemistry, microbiology, endocrinology, hematology, and newborn screening.
Dr. Carmencita David-Padilla, MD, MAHPS,
Philippines Dr. Carmencita Padilla is currently Professor in Pediatrics at the College of Medicine, Director of the Institute of Human Genetics and Director of the Newborn Screening Reference Center at the National Institutes of Health Philippines- University of the Philippines Manila. She is Co-Chair of the National Technical Working Group on Newborn Screening at the Department of Health. She is founding president of the Newborn Screening Society of the Philippines. Her contribution to the field of Genetics has been recognized through various awards – University of the Philippines 2005 Outstanding Researcher, University of the Philippines Manila 2002 Gem for Outstanding Work in Newborn Screening, Trophy of Excellence for the Most Outstanding Research Group for the Newborn Screening 2000, Most Outstanding Alumnus for Community Service (National Level) for the year 1998, given by the UP Alumni Association, The Outstanding Young Men (TOYM) of the Philippines for Medicine (Medical Genetics) for the year 1994 and the Medal for Leadership of the Gerry Roxas Foundation field of Medicine (Medical Genetics) for the year 1994.
Dr Padilla finished her medical degree at the College of Medicine, University of the Philippines in 1981, after which she undertook Fellowship in Clinical Genetics at the Royal Alexandra Hospital for Children, Sydney Australia. She recently completed a Masters of Health Policy Studies at the College of Public Health, University of the Philippines Manila. Dr Padilla introduced newborn screening in the Philippines in 1996 and is responsible for the Newborn Screening Act of 2004, integrating newborn screening in the health care delivery system. She has edited or co-edited numerous books, book chapters, and scientific articles in the areas of pediatrics, genetics and newborn screening. She has served as expert reviewer for newborn screening programs in several foreign countries.
Dr. Shaikha Al Arrayed , Bahrain is a Consultant, Clinical
Geneticist and Head of Genetic Department, Salmaniya
Medical Complex, Kingdom of Bahrain since 1994. She
graduated as a physician from Cairo university and
did her Master’s in Human and clinical Genetics,
from London University in 1984. She then did her
Ph.D. in Genetics from Aberdeen University,
Scotland, United Kingdom in 1993 .
She is presently the Coordinator of the National
Committee for the control of hereditary diseases in
the Ministry of Health, a member of WHO Expert
Advisory Panel on Human Genetics. Her other
memberships include American Society of Human
Genetics, the European Society of Human Genetics,
American college of Medical genetics, the Human
Genome Organization (London) and the committee for
studying Genetic diseases in the Arab world, Arab
Health Ministers council.
In addition to this she is a member of the Committee
for Genetic Counseling, GCC Health Ministers council
since 1993. She is Assistant Chief Editor at Bahrain
Medical Bulletin since 1999.
Dr Al Arrayed is the founding member of various
societies such as Bahrain National Hereditary blood
diseases society, Bahrain Child development Society
and Bahrain Down's syndrome society. She has
organized and directed many National projects
including Premarital Counseling services in Bahrain
(1992-2003)and Student screening for Genetic Blood
diseases 1999-2003 in Ministry of Health, Ministry
of Education and Bahrain Hereditary anemia society.
She has established and directed Bahrain Birth
Defect Register project since 1999 and also the New
Born Screening project 2002. She has participated in
more than 80 international and national conferences
and published nearly 50 publications in
international and national journals, 6 health
education booklets, and three books on Heredity and
Genetic blood diseases. Her main interests are in
community and clinical genetics as well as genetic
testing.
ssarayed@batelco.com.bh
Dr.AHMED MOKHTAR MOHAMED ABU EL-ASRAR, MD, PhD
, KSA Professor
Department of Ophthalmology
College of Medicine,
King Saud University
Riyadh, Saudi Arabia Consultant
Vitreo-retinal Surgeon
Department of Ophthalmology
College of Medicine
King Saud University
Riyadh, Saudi Arabia
Dr. Michael T. Trese, M.D. , USA Michael
Trese received his medical degree from Georgetown
University in 1976 and then completed his residency
at the UCLA Jules Stein Eye Institute. He obtained
his vitreoretinal fellowship at Duke University in
Durham, North Carolina. He served as Director of
Vitreoretinal Surgery at the University of Kansas
prior to joining Associated Retinal Consultants in
1982. He currently is Clinical Professor of
Biomedical Sciences at Oakland University and
Clinical Associate Professor at Wayne State
University School of Medicine. He is Chief of
Pediatric and Adult Vitreoretinal Surgery at William
Beaumont Hospital in Royal Oak, Michigan.
Dr. Trese has a special interest in retinopathy of
prematurity and pediatric vitreoretinal diseases and
is an internationally recognized expert in this
area. He has been name to The Best Doctors in the
Midwest, United States, and America, and has
authored an extensive number of publications in
professional journals as well as many textbook
chapters. He has spoken all around the world and
delivered several named lectureships. His current
basic science and clinical research interests
encompass problems of both pediatric and adult
vitreoretinal disease including participation in
many National Institutes of Health and National Eye
Institute sponsored trials. He is President of The
American Retina Society and a member of the American
Society of Retina Specialists, Club Jules Gonin, and
the American Academy of Ophthalmology where he
served as co-chairman of the Retina 2005 Program for
the Subspecialty Day at the annual meeting. In
addition he has served on the Program Committee of
the Association for Research in Vision and
Ophthalmology and is a member of the Michigan
Ophthalmologic Society, American Medical
Association, and Oakland County Medical Society.
Dr.
Ibrahim El-Nekhely , Egypt -Director General of the Children with Special Needs
Directorate. Ministry of Health & Population, Cairo,
Egypt.
-General Manager of the National Neonatal Screening
Program for Congenital Hypothyroidism in Egypt.
-Executive Director of Upgrading of Disabled Centers
Project.
Dr. Hossein Najmabadi, Ph.D , IRAN Professor of Molecular &
Medical Genetics
Director of Genetics Research Center
Director of National Reference Laboratory for
Prenatal Diagnosis
Genetics Research Center, University of Social
welfare and rehabilitation Sciences, Evin, Tehran,
Iran
Professor of
genetics, Director and founder of the Genetics
Research Center (GRC) at the University of Social
Welfare and Rehabilitation Sciences in Tehran, Iran.
The mandate of the GRC, also designated the National
Reference Laboratory for Prenatal Diagnosis in Iran,
is to prevent genetic disabilities and disorders by
the establishment of a nationwide strategy for the
early prenatal diagnosis of genetic disorders. In
five areas of preventable genetic disorders, Dr.
Najmabadi leads projects that not only apply
preventive solutions within the population but also
involve nationally and internationally collaborative
research in order to improve the quality of life
nationwide.
GRC research on mental retardation (MR) includes the
evaluation of clinical heterogeneity of MR patients
and the establishment of genetic causes using
cytogenetics, molecular cytogenetics and molecular
techniques.The investigation of hemoglobinopathies
at the GRC comprises a number of projects to
identify the mutation spectrum of alpha- and
beta-thalassemia, with the establishment of
protocols for mutation identification and prenatal
diagnosis. Moreover, studies on the potential
elements in the induction of gamma globin as well as
the molecular mechanism of hydroxyurea aim to
improve the treatment of thalassemia. In the study
of both syndromic and non-syndromic deafness, the
GRC identifies the genes or mutations particular to
Iran and establish diagnostic protocols for them. In
order to classify different subtypes of
neuromuscular disorders (NMD) in Iran, family DNA
studies are guided by the histopathology facilities
at the GRC. The common cancer-causing genes in Iran
are undergo gene screening using PCR/SSCP analysis.
For hereditary breast cancer, BRCA1 and 2 genes are
screened as well. Using quantitative RT-PCR and
Western blot, the GRC works to elucidate the
expression of calreticulin in different types of
cancer including prostate, colorectal and breast
cancer, in collaboration with the Iran University of
Medical Sciences.
For more information, visit the GRC website at
http://www.uswr.ac.ir/GRC
Dr. Pranesh Chakraborty MD, FRCPC(Pediatrics and Medical Biochemistry), FCCMG
, CANADA
Dr. Chakraborty is an Assistant
Professor of Pediatrics and Pathology &Laboratory
Medicine at the University of Ottawa. He is the Head
of the Ontario Newborn Screening Laboratory and a
clinical metabolic geneticist in the Department of
Genetics at the Children’s Hospital of Eastern
Ontario (CHEO).
Dr Mohammad Al-Masri, Ph.D. Audiology ,JORDAN Dr Mohammad Al-Masri, Ph.D.
Prof. Agne Larsson
Emeritus Professor of Pedaitrics,
Karolinska Institute,
Stockholm, Sweden
Prof. Agne Larsson , SWEDEN
Emeritus Professor of Pedaitrics,
Karolinska Institute,
Stockholm, Sweden
Prof. Graham Serjeant , UK
has worked full time in sickle cell disease since 1967 when he was a Wellcome Trust supported Research Fellow in the Dept. of Medicine at the University Hospital of the West Indies, Kingston, Jamaica. With Trust support from 1967-1971, extensive studies on the the long term follow-up of patients in the community were conducted and highlighted the biases in observations resulting from previous hospital based studies of the disease. In 1972, long term support became available from the British Medical Research Council (MRC) and Professor Serjeant became Director of the MRC Laboratories in 1974. The MRC Laboratories at the University of the West Indies, developed programmes of care and clinical research which eventually served 5,500 patients with sickle cell disease. Perhaps the most important study was the Jamaican Cohort Study of Sickle Cell Disease based on the follow-up of all cases detected during the scrfeening of 100,000 births. In 1986, the Sickle Cell Trust (Jamaica), a local charity, was formed to raise funds for patient services and Professor Serjeant has been Chairman since its inception. The Trust built the Sickle Cell Clinic and an Education Centre for Sickle Cell Disease. In 1999, Professor Serjeant retired as Director of the MRC Laboratories but continues to work full-time with the Sickle Cell Trust on public education in sickle cell disease.
Mohamed S. Rashed, BPharm,
MSc, PhD , EGYPT Previous position (till June 30, 2007)
Director, National Laboratory for Newborn Screening
& Deputy Chairman, Department of Genetics
King Faisal Specialist Hospital & Research Centre
Riyadh , Saudi Arabia
Current Position:
Co-founder and Chief Executive Officer
Pharmagene
Specialized Analytical Services
Aman Street, Dokki
Cairo, Egypt
Dr. Dirk Kohlmueller
, GERMANY Dirk Kohlmueller is the analytical
supervisor of the newborn screening in Heidelberg,
Germany. He established newborn screening using
electrospray-tandem mass spectrometry in the
Heidelberg screening laboratory in march 1998.
University Childrens Hospital Heidelberg
Newborn screening
Heidelberg, Germany
Dr. David Taylor, FRCPCH, FRCOphth, DSc(Med) , UK Professor and Head of the Visual Sciences Unit
Institute of Child Health
30 Guilford Street
LONDON WC1N 1EH
Tel: 0120 7242 9789
d.taylor@ich.ucl.ac.uk
Consultant Ophthalmologist
Great Ormond Street Hospital for Children
LONDON WC1N 3JH
Tel: 020 7405 9200X5651 Fax: 020 7829 8647
tayloD1@gosh.nhs.uk
Dr. Martin Lindner , GERMANY Dr. Martin Lindner
Head of Division for Metabolic Diseases
Head Newborn Screening Centre Heidelberg Centre for
Child and Adolescent Medicine
Dr. Chester Whitley , USA Chester B. Whitley, Ph.D., M.D.
Professor
Gene Therapy Center
Department of Pediatrics, and
Institute of Human Genetics
University of Minnesota
Professor Anne Green , UK Consultant Biochemist Research & Development
Birmingham Childrens Hospital NHS Trust
Dr. Ahmed Teebi , Qatar
Ahmad Teebi, MD, FACMG, FRCPE, FRCPC
Professor of Pediatrics Professor of Genetic Medicine
Weill Cornell Medical College in Qatar
Dr. Hilal Al Rifai , Qatar
Chief of Medical Staff, Women's Hospital
Director of Neonatal & Perinatal Medicine
Director of Qatar Newborn Screening Program
Chairman of the Conference
Doha, Qatar
Dr. Sana Al Hait , Jordan
-
Head of Section for Prevention of Genetic and
Congenital Disorders
- Director of the Premarital Screening for
Thalassaemia & the New Born Screening Programmes .
The New rn
- Directorate for Disease Control and Prevention Ministry of Health
Jordan
Dr. Anant Pai , Qatar
-Specialist, Vitreo-Retinal Unit,
-Ophthalmology Department,
-Hamad Medical Corporation.
Dr.Khalid A.Hadi Hassan , Qatar
-Head of Audiology Unit -Hamad Medical
Corporation
-Head of National Program for Early Detection of
-Hearing Loss
-ENT Specialist
-Fellowship in Audiology - Toronto University
Dr. Tawfek Omran , Qatar
-
Section Head, Clinical and Metabolic Genetics
Department of Pediatrics
Hamad Medical CorporationDoha-Qatar
- Fellow Royal College of Physicians and Surgeons of
Canada: Clinical and Metabolic Genetics
- Fellow Canadian College of Medical Genetics
Dr. Hamad Al Gamra ,Qatar
-National coordinator for prevention of blindness
program & Consultant Ophthalmologist,
ophthalmology section ,HMC -QATAR
