Organisation: Human Variome Project International Ltd
Position: Chairman of the Board
David is currently an Executive Director of The CASS Foundation Limited, Chairman of four syndicates of Chief Executive Officers, Chairman of The Knox School Limited, and Chairman of the Human Variome Project International Limited, an international consortium that is documenting and sharing information on all genetic variation affecting human disease.
He has been actively involved in the Education Sector as a director of Taylors Schools, Study Group International, Ruyton Girls School and as Chair of the Council at Ormond College, The University of Melbourne.
He was formerly Chairman of Sirius Telecommunications Limited, Chairman of the Australian Health Service Alliance Limited, Thirteenth Beach Golf Links Limited, The Liberty Group (County Court of Victoria), Deputy Chairman of Generation Victoria, a director of St Hilliers Holdings Pty Limited, and a director of Davis Langdon Australasia (now AECOM). He was the Facilitator on the Melbourne City Link Project, the Probity Adviser for the Melbourne Cricket Ground redevelopment, the Facilitator to four Universities on the Docklands Project, Due Diligence Adviser to the Vice Chancellor at The University of Melbourne and the Commissioner conducting a Commission of Enquiry investigating governance at Nillimbuk Council.
He has been a consultant retained as a business, legal and property consultant on various projects in Australia and New Zealand. He is a lawyer and was formerly Managing Partner of a city legal firm.
Dr. Najib Al Khaja.jpg
Organisation: Centre for Arab Genomic Studies
Secretary General - Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences
President - Centre for Arab Genomic Studies
Professor of Surgery- Dubai Medical College for Girls
- CEO - Majid Al Futtaim Health Care 2008 - till present
-Head of Cardiothoracic Surgery Department- Dubai Hospital 1992- 2003
-Director of Cardiology & Cardiothoracic Surgery Centre - Dubai Hospital 2003-2008
Professor Najib Al Khaja, UAE National & born in Dubai.
Professor Al Khaja passed the Bachelor of Medicine and Bachelor of Surgery from Ain Shams University, Cairo, Egypt in 1981. Professor Al Khaja specialized in Cardiothoracic Surgery from University of Gothenburg, Sweden in 1991, where he obtained the Swedish Board Degree, followed by Ph.D. in Cardiac Surgery from the same university. He is was also appointed by the University of Gothenburg as an Associate Professor in 1991.
Prof. Al Khaja was the first UAE National Cardiothoracic Surgeon, following his return from studies in 1992. His first assignment was to establish the Department of Cardiothoracic Surgery in Dubai Hospital, which was accomplished successfully & the unit is a known Centre in the region. During his surgical career he performed thousands of cardiac surgery procedures of different types; Professor Al Khaja is a well-known surgeon in UAE & in the region. His tremendous input in the field has added great value to the cardiac services specifically & to the medical services in general. He had a significant role in developing new services, an example of which is the Intensive Care Units. His contribution continued when he became the Director of the Cardiac Centre, which led to significant changes & improvements in cardiac services, where new cardiology services were added to the existing ones.
Professor Al Khaja is also well known for his interest in Research, having published more than 100 scientific papers & approximately 200 abstracts presented in different scientific meetings. He is the founding “Editor of Journal of Medical Sciences” in UAE & editor in several international journals
Professor Al Khaja holds the post of Professor of Surgery in DMC for Girls. He is also a member of Board of Trustees of Arabian Gulf University - Bahrain; and Board of Trustees Gulf Medical College - Ajman. He is also a member of many regional & international Medical Societies.
Professor Al Khaja is a secretary General of Sheikh Hamdan Award for Medical Sciences, a very prestigious medical award world-wide. The award plays a significant role in promoting medical activities and functions like research, conferences, courses and medical community activities.
Genetics is another medical field in which Professor Al Khaja is interested in, as the President of Centre of Arab Genomic Studies, which was established in 2005. The Centre holds the achievement of collecting & having the biggest Data Base of genetic Diseases in the Arab World & the 2nd biggest Database of genetic Disorders in the world. In addition to supporting Genetic Research in the region.
In addition to several Awards, in 1999 Professor Al Khaja was awarded the Best Employee of the year from DOHMS and also awarded a Special Recognition Award by Dubai Excellency Award for establishment of the Cardiac Surgery Department as part of his distinguished role in the field in 2000.
In 2007, he was also awarded, by H H Sheikh Khalifa Bin Zayed Al Nehyan, President of UAE; the UAE RECOGNITION AWARD in the field of Science & Medicine, which is one of the most prestigious awards in the Country.
Organisation: Kuwait University
Position: Associate Professor, Head of Molecular Pathology
Fahd Al-Mulla is the Director of the Research Core Facility (RCF) in Kuwait University Health Sciences Center. He is a Fellow of the Royal College of Physicians of Edinburgh. After he gained his M.B.,Ch.B., Ph.D degrees from Glasgow U.K and postdoctoral training, he realized the lack of infrastructure pertaining to the fields of Genomics, Proteomics and cellular Biology in his home University. To alleviate the suffering of his fellow researchers and future recruits, he established a state-of-the-art facility specialized in molecular technology. RCF can be visited by clicking on this link (http://www.hsc.edu.kw/vpo/rcf). He heads a Molecular Pathology Unit, which aims at delivering state-of-the-art diagnostic, targeted/personalized therapy for cancer patients and molecular genetics (http://www.al-mulla.org).
Currently, as Head of Molecular Pathology, he is focused on identification of novel metastasis suppressor genes in colorectal cancer and spearheads a collaborative effort to promote public awareness as regards to the importance of scientific research outputs in resolving society’s problems and in expediting the scientific development process in the Arab world especially in the field of the Arab Genome, the Human Variome Project and their relevance and application to clinical pathology. To that end, Dr. Al-Mulla aims at narrowing the gap in technological advancement and health inequalities between the West and the Middle East.
Dr. Al-Mulla’s identified and characterized two metastasis suppressor genes. His work now focuses on identifying mechanisms of RAF Kinase Inhibitory Protein (RKIP) metastasis suppression.
Hagan S, Al-Mulla F, Mallon E, Oien K, Ferrier R, Gusterson B, Garcia JJ, Kolch W
Reduction of Raf-1 kinase inhibitor protein expression correlates with breast cancer metastasis. Clin Cancer Res. 2005 Oct 15;11(20):7392-7.
Fahd Al-Mulla, Suzanne Hagan, Abdulla I. Behbehani, Milad S. Bitar, Shirley S. George, James J. Going, Jorge J. Curto García, Lucy Scott, Nicky Fyfe, Graeme I. Murray and Walter Kolch Raf Kinase Inhibitor Protein (RKIP) expression in a survival analysis of colorectal cancer. J Clin Oncol. 2006 Dec 20;24(36):5672-9
Fahd Al-Mulla, Milad S. Bitar, Abdulla I. Behbehani, Govindarajulu Varadharaj, James J. Going Genetic Profiling of primary tumours predicts metastatic recurrence in early stage colorectal cancer. Mod Pathol. 2006 May;19(5):648-58.
Fahd Al-Mulla, Milad S. Bitar, May Al-Maghrebi, Abdulla I. Behbehani, Waleed Al-Ali, Oliver Rath, Brendan Doyle, Kit Yee Tan, Andrew Pitt, Walter Kolch.
Raf kinase inhibitor protein RKIP enhances signaling by glycogen synthase kinase-3?
Cancer Research 2011 Feb 15;71(4):1334-43.
Fahd al-Mulla, Milad S. Bitar, Zainab Taqi, Oliver Rath and Walter Kolch.
Raf Kinase inhibitory protein (RKIP) modulates cell cycle kinetics and motility
Molecular Biosystems 2011 Mar 1;7(3):928-41.
Patrinos GP, Al Aama J, Al Aqeel A, Al-Mulla F, Borg J, Devereux A, Felice AE, Macrae F, Marafie MJ, Petersen MB, Qi M, Ramesar RS, Zlotogora J, Cotton RG.Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat. 2011 Jan;32(1):2-9
Organisation: School of Medical Sciences, Universiti Sains Malaysia
Position: Consultant Paediatrician & Clinical Geneticist
Professor Dr. Zilfalil Alwi, is currently working as a Consultant Paediatrician and Clinical Geneticist, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.
He started his medical career as a medical officer in 1991 after completing his Bachelor of Medicine and Bachelor of Surgery (MBBS) degree at University of Dacca, Bangladesh. He joined Universiti Sains Malaysia (USM) School of Medical Sciences as a Trainee Lecturer in 1994, and was later awarded the Master of Medicine (MMed) in Pediatrics from USM. He then obtained a Masters degree (MSc) in Medical Genetics from University of Glasgow, United Kingdom and then continued his studies at University of Aston, United Kingdom, where he was awarded Doctor of Philosophy (PhD) in Pharmacogenetics.
His research interest includes genetics of childhood Spinal Muscular Atrophy (SMN genes & NAIP gene), population genomics (genetic diversity of the Malay race), and genome wide studies on diseases common to the local population. He has published more than 60 papers in international and local journals and presented more than 100 papers at local and international conferences.
He is a member of the Pan-Asia SNP research consortium which studies the genomic profile of the Asian population. He is also the head of the Malaysian node of the Human Variome project, a global effort focused on the collection, collation and curation of genomic variations of all world population and for use globally.
Professor Zilfalil is the Chief Editor of GENETIK, the official Bulletin of the Genetics Society of Malaysia. He is also the Chief Editor of the Malaysian Journal of Paediatrics and Child Health.
Organisation: Human Variome Project International Ltd
Position: Board Member
Board Member, Human Variome Project International Ltd
Chris Arnold brings experience from six CEO and nine board member roles, across the government, corporate and not for profit sectors in health, legal services and accounting & financial services industries. His health experience includes as a Victorian Government Deputy Regional Director, consultant, Deputy CEO of a major teaching hospital, private hospital group CEO and research institute board member. He has worked as an adviser and supporter with the precursor organisations to the HVPI ltd for over 15 years.
Organisation: The Rockefeller University, New York, USA
Position: Fanconi database curator
Dr. Auerbach's research at The Rockefeller University since 1982 has focused on Fanconi anemia (FA), a genetically heterogeneous recessively inherited syndrome characterized by developmental abnormalities, life-threatening bone-marrow failure and predisposition to a variety of cancers, particularly acute myelogenous leukemia and squamous cell carcinoma. Among the fifteen Fanconi proteins that have been identified, several are known to predispose heterozygous carriers to breast cancer. Dr. Auerbach's work led to development of the “gold-standard” test for prenatal as well as postnatal diagnosis of FA. Her work on the prenatal diagnosis of FA played a major role in the use of this syndrome as a model for the development of umbilical cord blood transplantation as an alternative to bone marrow transplantation in the treatment of numerous hematologic disorders, and the use of pre-implantation genetic diagnosis (PGD)/in vitro fertilization (IVF) to identify embryos that will be “savior siblings”, their cord blood collected at birth serving as a source of HLA-matched healthy hematopoietic stem cells for transplant. Researchers who study Fanconi anemia have access to a large number of patient samples of defined genotype and phenotype, available through the International Fanconi Anemia Registry (IFAR), founded at Rockefeller by Auerbach in 1982. Auerbach is curator of the Locus Specific Database (LSDB) FA (Fanconi Anemia Mutation Database), started in 1997, which includes all FA genes. She is a Founding Fellow of the American College of Medical Genetics, served as elected Council Delegate from Medical Sciences to the AAAS (2003-2006), is a Fellow of the AAAS (elected 2006), received several awards from the Fanconi Anemia Research Fund (Lifetime Achievement Award, Founder Award and Discovery Award 3 times), and received a MERIT grant award from NIH/NHLBI (1997-2007). Editorial responsibilities have included Cytogenetics and Cell Genetics, Cancer Genetics and Cytogenetics and Human Mutation. She served several terms as a member of the Board of Directors of HGVS starting with its inception in 2001, and served on the Scientific Organizing Committee for the HVP meetings in 2006, 2008 and 2010.
Organisation: Newcastle University, Newcastle upon Tyne
Position: Professor of Clinical Genetics
Professor Sir John Burn Kt MD FRCP FRCPE FRCPCH FRCOG FMedSci
Professor of Clinical Genetics, Newcastle University, Newcastle upon Tyne, UK
Sir John was knighted in the 2010 New Year’s Honours list for services to Medicine and Healthcare. He was born and raised in North East England and attended Newcastle University Medical School. In 1973 he was awarded a first class honours degree in Medical Science after an intercalated year in Human Genetics. He completed medical and paediatric rotations before being appointed Clinical Scientific Officer at the MRC Clinical Genetics Unit in London. As honorary senior registrar at the Hospital for Sick Children Great Ormond Street he completed training as a clinical geneticist and was became the first specialist in the field in the North East in 1984. From 1989 - 2004 he led a unified clinical and laboratory team, the Northern Genetics Service, caring for the three million people of the North east and Cumbria. He became the first Professor of Clinical Genetics in 1991 and has over 250 peer reviewed publications. He became Director of the Institute of Human Genetics (IHG) from 2005-10 during which time the tenured academic staff rose to 33, 18 of them professors with an overall staff of approaching 200 and a 3rd place behind Oxford and Cambridge for Quality in the 2008 Research Assessment.
He conceived and helped bring to fruition the Millennium Landmark Centre for Life in Newcastle opened by the Queen in 2000. In addition to housing the IHG and the region’s Fertility and Genetics services, the Centre attracts a quarter of a million paying visitors to its science centre and provides practical science education to 40,000 schoolchildren per annum. From 2000-2005 he was a founder member of the Human Genetics Commission. From 2002-7 he was Public Orator for Newcastle University. Extensive media involvement includes being scientific advisor and participant in the BBC/Discovery series How to Build a Human in 2001.
In 2008 he was appointed chair of the newly created Clinical Genetics Specialty Group of the National Institute of Health Research. In 2009 he became Director of the national Collaborative Group on Genetics in Healthcare and Lead Clinician for the NHS in the North East of England. In 2010 he was appointed to chair the Innovation strand of the new UK Human Genomics Steering Group and became chair elect of the British Society for Human Genetics..
Position: Head of the Molecular Genetics Department
Mireille CLAUSTRES, M.D., Ph.D., Professor,
Head of the Molecular Genetics Department
University Hospital of Montpellier (France)
Director of Inserm research unit 827
Pr. Claustres studied at three Universities of Montpellier: Faculty of arts (graduated in Psychology); Faculty of Medicine (M.D. and Full Professor); Faculty of Sciences (Master in Biochemistry and Ph.D.) then specialized since 1990 in molecular genetics for some single gene disorders. She is responsible for a Clinical Diagnostic Service (including prenatal and preimplantation genetic diagnosis), Teaching Medical Molecular Genetics and a Research Inserm unit entitled "Rare Disorders: Molecular Genetics, Functional studies and Locus specific databases". Her interests include the genetic basis of single gene disorders, aberrant splicing, genotype/phenotype relationships and Locus specific mutation databases. She has contributed over 223 peer reviewed publications and 50 others. She is also involved in Scientific Councils of Patients Associations Scientific Committees and The National Council of French Medical Universities.
Organisation: The Human Variome Project
Position: Scientific Director
Richard Cotton AM BAgSc., Ph.D, D.Sc. (Melbourne) initiated the Mutation Research Centre, now renamed the Genomic Disorders Research Centre, in January, 1996 (www.genomic.unimelb.edu.au). He has always been interested in the biochemical genetics of human disease and has recently focussed on mutation. Amongst his more notable scientific achievements are the conception, planning and execution of the fundamental experiment, which proved that when two immunoglobulin producing cells were fused, the immunoglobulin of both parental cells were produced in the hybrid. This laid the experimental and theoretical foundation for the widely used monoclonal antibody technique. He also conceived the widely used tetrohydrobiopterin (BH4) load test to identify the serious variants of PKU, but BH4 is currently being trialed in heart disease. He is particularly interested in improving mutation detection technologies to make them cheaper and simpler, so that they can be more widely applied, and holds several patents in the area. A recent development has been a method to detect DNA damaging compounds. He has written two books entitled "Mutation Detection", initiated in 1991 the journal entitled "Human Mutation", and in 1991 initiated bi-yearly international workshops on Mutation Detection and in 1998 bi-yearly HUGO Mutation Detection Courses. In 1996 he has also started a worldwide initiative (The HUGO Mutation Detection Database Initiative, recently formed into the Human Genome Variation Society (HGVS) website: www.hgvs.org.) to capture and distribute lists of mutations. In June 2005, he was admitted as a Member of the Order of Australia for service to science through genetic research, particularly through the development of technologies to detect gene mutations that underlie birth defects or cause disease and through efforts to document findings. In June 2006, he convened a Meeting, co-sponsored by WHO, which initiated the Human Variome Project (www.humanvariomeproject.org). This project aims to collect worldwide genetic variation and its associated phenotype affecting human health. He convened a HVP planning meeting in Spain in May 2008 (www.humanvariomeproject.org/meetings/HVP2008/) and convened the third HVP “Implementation and Integration” meeting at the UNESCO headquarters in Paris in May 10-14, 2010 (www.humanvariomeproject.org/meetings/paris/). He is the author of over 300 scientific papers and 3 patents. He can be contacted at (Telephone) +61 3 8344 1893, Fax +61 3 9347 6842 and Email firstname.lastname@example.org.
Organisation: Human & Clinical Genetics, Leiden University Medical Center
Position: Head, Leiden Genome Technology Center
Johan den Dunnen studied biology at the Catholic University Nijmegen (Nederland). In the same university he received his PhD in Molecular Biology for his work on the "Evolution of eye-lens crystallin genes". After his PhD he moved to the department of Human Genetics (Leiden University) and became involved in the search for the gene causing Duchenne/Becker muscular dystrophy. He is currently employed at the Center for Human and Clinical Genetics (Leiden University Medical Center, Leiden, Nederland), studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particular. As professor in "Medical Genomics" he focuses on the use of new high-throughput technology in research and diagnosis of genetic disease, in particular the development of methods to detect DNA variants and the application of next generation sequencing. To spread the laboratories knowledge on hereditary muscle disease he initiated the "Leiden Muscular Dystrophy pages" (http://www.DMD.nl). As part of these efforts he currently curates over 50 gene sequence variant databases. His group developed the freely available LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS sequence variant description) and he participates in the EU FP7 Gen2Phen project (WP leader for gene variant databases [LSDBs]).
Organisation: The Vietnam National Hospital of Pediatrics
Position: Director of Departmen of Medical Genetics, Metabolism and Endocrinology
Dr. Vu Chi Dung is from The Vietnam National Hospital of Pediatrics in Hanoi, Vietnam and has extensive experience with Medical Genetics, Inherited Metabolic Disease and Molecular Pediatric Endocrinology. He is now Director of Department of Medical Genetics, Metabolism and Endocrinology and Deputy Head of Clinical Research’ Division in Research Institute for Child’ health of Vietnam National Hospital of Pediatrics. He is also working as a Honorary Associate in Sydney Medical School, Children’s Hospital at Westmead Clinical School, University of Sydney NSW, Australia from July 2010.
He is a main or co-author of many scientific papers and is in the Japanese Journal for inherited Metabolic Diseases, Molecular Therapy, Human Mutation, Human Molecular Genetics, Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disease, Pediatric International and International Health. He was peadiatric resident in France for one year at Medical Genetic Center of the Hospital Pediatrics of St. Antony, Catholic University of Lille and was research fellow for 3 years at the Medical Genetics division, Department of Peadiatric, Saint Louis University, MO, USA. He was a fellow at Royal children’s Hospital, Melbourne in Aug. 2001 and Mar. 2005 and Jul - Aug. 2010. He has been awarded First prize of National Science Congress of young researchers of medicine faculties in Vietnam in 1998 and Vietnam Australia Research Project in 2004. He was awarded the Pfizer Overseas Fellowship according to outstanding presentation for the Japanese Society for Inherited Metabolism Diseases in 2004.
Organisation: National Research Center (NRC), Cairo
Position: Head of Clinical Genetics Department
Prof. Dr. Mona El Ruby is a Professor of Human Genetics since 2003, Head of Clinical Genetics Department, National Research Center (NRC), Cairo,Egypt since 2007-tillpresent. Dr. Mona graduated from Faculty of Medicine, Cairo University, Egypt, and got her MD in 1975. She received her Master degree in Pediatrics in 1980 at Faculty of Medicine, Cairo University, Egypt. She received her PhD in Human Genetics from Faculty of Medicine, Alexandria University, Egypt in 1986. She joined the (NRC) in Egypt in 1977 under the supervision of Prof. Dr. Samia Temtamy Prof. of Human Genetics. Since then she is working extensively in the fields of Clinical Genetics and Cytogenetics. Her current research interests include: Clinical Syndrome Identification, Dysmorphology, CHD, Skeletal Dysplasia, Sexual Differentiation Disorders, and Detection of Mutations in rare Autosomal Recessive Disorders .She works also as Clinical Cytogeneticist. She is focusing on genotype-phenotype correlations in genetic diseases, and on genetic counseling. She is an author and co-author of more than 55 publications in national and international peer-reviewed medical journals. At present, she is the Principal and Co-Principal Investigator of 5 major projects: namely prevention and classification of genetic disorders, registry and database foundation for genetic diseases in Egypt, genetic studies in Disorders of sexual Development. Recently she is focusing on detection of gene mutations in Congenital Heart Disease (genotype-phenotype correlations), on Mental Retardation (syndromic and non syndromic) and on Clinical Molecular Cytogenetics. She is a member of several scientific genetic societies. She is a member of the International Scientific Advisory Committee of the HVP, 2010-till present.
Organisation: The Venezuelan Central University
Position: Honorary Professor (Clinical Genetics Unit)
Aída B Falcón de Vargas, RELAGH
(Venezuelan Society of Genetics)
Centro Clínico Profesional Caracas.
Anexo Hospital de Clínicas Caracas.
8º piso 802. Avenida Panteón, San Bernardino. Caracas, DF 1010 Venezuela.
Expertise: Clinical and Molecular Genetics; Cancer Genetics; Cytogenetics
Aída B. Falcón de Vargas, MD, PhD is a Honorary Professor (Clinical Genetics Unit) at the Venezuelan Central University. Dr. Vargas received her MD degree from the Venezuelan Central University, her PhD from the Institute of Child Health at the University of London. She did her residency at the Hospital Vargas de Caracas/ Vargas Medical School. Dr. Vargas expertise is Clinical and Molecular Genetics, Cancer Genetics and Cytogenetics. Dr. Vargas has served on several editorial boards including the Venezuelan Genetics Society Publications, Journal of The Venezuelan Medical Federation, the Journal Acta Científica Venezolana, The Venezuelan Society of Internal Medicine and the Journal of the Medical Faculty, Venezuelan Central University. Dr. Vargas is author and co-author in numerous publications.
Dr. Vargas is a member of several professional organizations including the Venezuelan Genetics Society (where she also served as President and Secretary General), the Hospital Vargas de Caracas Medical Society, Internal Medicine Venezuelan Society, ASOVAC Venezuelan Science Society, Latin-American Genetics Society, the International Genetics Association, Dermatoglyphics International Association, British Clinical Genetics Society, Clinical Pathology Venezuelan Society, European Genetics Society, Clinical Genetics Colombian Society, Latin American Genetic Association (RELAGH). Dr. Vargas is a fellow of the American College of Physician-American Society of Internal Medicine and corresponding member of the American College of Medical Genetics.
Organisation: Cypriot Node
Position: Node Representative
Andreas Hadjisavvas, Ph.D.
Dept. EM/Molecular Pathology
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Adjunct Professor with the Brunel University of London
Andreas Hadjisavvas studied for his BSc. in Biochemistry and MSc. in Medical Biochemistry at Brunel University, London. Since 1994 he has been working in the Department of Electron Microscopy/Molecular Pathology of the Cyprus Institute of Neurology and Genetics (CING). He obtained his PhD in Cancer Genetics in 2002 (Brunel University). His research work has focused on studying various cancer syndromes in the Cypriot population. He was actively involved in establishing the Cancer Genetics Clinic at the CING and setting up diagnostic services in cancer genetics offered by the department. In addition, he is spearheading a number of association and validation studies on breast cancer in the Cypriot population. Andreas was a founding member of the Cyprus Society of Human Genetics and has served on its board of Directors since its establishment in 2003. He has been a member of the HGVS since 2003 and has actively participated in society annual meetings. Since 2005, he has been appointed and Chairs the bioethics evaluation committee responsible for biomedical research and clinical trials. He has also been appointed by the council of ministers to the National committee of “Environment and child Health”.
Organisation: Academic Medical Centre of the University of Amsterdam
Position: Professor of Paediatrics and Translational Genetics
Raoul CM Hennekam received his MD degree and his specialty trainings in Paediatrics and a second one in Clinical Genetics at the State University of Utrecht, The Netherlands. He was appointed as professor of Paediatrics and Clinical Genetics in 2002 at the Academic Medical Centre of the University of Amsterdam. Between 2005 and 2010 he worked in London at the Institute of Child Health and Great Ormond Street Hospital for Children at the University College London as professor of Clinical Genetics and Dysmorphology. He is presently working as professor of Paediatrics and Translational Genetics in Amsterdam again, and as honorary professor of Clinical Genetics at the Institute of Neurology at University College London. His main scientific interests include mental disabilities, autism, connective tissue disorders, and (molecular) dysmorphology. He is member of the Dutch Health Council, European Editor of the American Journal of Medical Genetics, editor of the European Journal of Medical Genetics, member of the editorial board of 8 other medical journals, author of >350 papers in the international literature and of 12 chapters in international texts, co-chair of the international morphology nomenclature committee, and senior editor of the major text in Dysmorphology ‘Gorlin’s Syndromes of the Head and Neck’.
Organisation: GEP Consulting, Inc.
Position: Founder and Principal
Founder and Principal
GEP Consulting, Inc.
317 Lamartine Street, Suite 200
Boston, MA 02130, USA
Carol Isaacson Barash, Ph.D. is an internationally recognized expert in personalized medicine, ethics and the integration of genomics and health into health care delivery. She works with private, public and academic institutions to provide ethics consultations, genetics educational programs for practitioners and consumers as well as to devise and help implement strategies to optimize clinical adoption of genetic/genomic advances. She
conducted pioneering work in genetic educations that resulted in innovative learning strategies based on identified barriers and drives in medical decision making. In addition, she is a lecturer on Personalized Medicine at Regis College, and previously been an adjunct professor of medical ethics at Boston University. Dr Barash serves as a Resource Expert of Bioethics Beyond Borders, member of the International Association for Ethics Education, a division of the Division of Ethics of
Society and Technology, Sector for Social and Human Sciences, UNESCO, member of the
World Council for Ethical Standards of Bio Ethics International, and an affiliate member of
the Society for Clinical Data Management, and Co-Chair of the Ethics Committee, and Cochair
of the Education Committee for the Human Variome Project, She has published over 30 scholarly articles in addition to her book Just Genes: The Ethics of Genetic Technologies, (Praeger/Greenwood, 2007). She has an extensive teaching background, having given many hospital grand rounds, and held adjunct Professor positions,
most recently at Boston University. She has held the role of Principal Investigator on three
federally funded education research grants, consultant to several other genetic services
research projects, and NIH Study section reviewer of small business innovative research
(SBIR) grants to commercialize new technologies; Bio-behavioral and Behavioral Processes IRG
and the Genetics Division of the Robert Wood Johnson Foundation. She is a frequent speaker at
industry and academic conferences around the world. She has taught medical ethics at
Boston University and will teach Personalized Medicine this spring at Regis College.
Prior to founding GEPCI, Dr. Barash directed the first federally funded study of genetic
discrimination, directed program evaluations and policy analyses at the US DHHS, Office of
the Inspector General, Office of Inspection & Analysis, and at the Center for the Study of
Drug Development and Regulation, Tufts New England Medical Center and served on the
Institutional Review Board (IRB) at the New England Deaconess Hospital.
She received her Ph.D. in philosophy from the University of Chicago/Boston College, and
her B.A. from Bates College/ Harris Manchester College, University of Oxford.
Position: Global Genes Foundation
Li Xitao graduated from Henan Medical College in 1976, and then has studied in Liaoning, China Medical University. Selected in 1991 by the National Academy of Traditional Chinese Medicine in China solely on "China's National Medical Master" academic professor Lu ZhiZheng, inheritance, and approved by the state officially became " Professor Lu ZhiZheng academic heir."
Edited 9 monographs published in scholarly, academic papers published more than 60 articles, 13 received major research awards, three patents by national intellectual property and the National Technology Award.
Has served in Henan Institute of Diabetes Medicine, Hospital Director and other staff. Now works in Beijing Chinese Medical Research Institute of natural medicine, professor, chief physician. Internationally renowned physician Association, UNESCO human variome projects permanent director and director in China. President of GLOBAL GENES FOUNDATION (GGF) and the director of THE UNION OF GLOBAL GENES APPLICATION ( UGGA).
Organisation: The Royal Melbourne Hospital
Position: Head, Colorectal Medicine and Genetics
Professor, Dept of Medicine, University of Medicine, The Royal Melbourne Hospital
Professor, Dept of Medicine, Monash University Dept of Medicine, Cabrini Medical Centre, Melbourne
Head, Inflammatory Bowel Disease Service, The Royal Melbourne Hospital
Secretary, International Society for Gastrointestinal Hereditary Tumours
Member, Steering Committee, NIH Colon Cancer Family Register
International vice chair, CAPP studies of chemoprevention.
Lifelong interest in screening and prevention of colorectal cancer, founded on postgraduate study and research at St Mark’s Hospital, London.
Currently active research portfolio in new methodologies of screening and endoscopic enhancement (MR colonography, capsule colonoscopy, confocal endomicroscopy), surveillance in high risk for colorectal cancer, modifier genes in Lynch Syndrome, clinical trials of primary prevention of colorectal cancer, microbiota profiles in IBD and indigenous Australians, and HALO RFA in Barrett’s dysplasia, and the Human Variome Project - annotating all variation in the human genome.
Organisation: University of Patras, Greece
Position: Assistant Professor of Pharmacogenomics
George Patrinos obtained his PhD in Molecular Biology and Genetics from the University of Athens (Greece). He currently serves as Assistant Professor of Pharmacogenomics in the University of Patras (Greece) and holds an adjunct position at Erasmus MC, Faculty of Medicine, Rottetrdam (the Netherlands). Also, he is Greece’s National representative in the Pharmacogenomics working party of the European Medicines Agency (EMA, London, UK) and the European Regional coordinator of the Pharmacogenomics for Every Nation Initiative (PGENI).
His research interests involve pharmacogenomics for hemoglobinopathies and neuropsychiatric disorders, transcriptional regulation of human fetal globin genes and genotype-phenotype correlation in human genetic disorders. His group also has a keen interest in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different poulations worldwide, while recently his group initiated a nation-wide project to critically assess the impact of genetics to society.
George Patrinos has more than 85 publications in peer-reviewed scientific journals and textbooks and he is the Editor of the textbook “Molecular Diagnostics”, published by Academic Press, now in its 2nd edition. Furthermore, he serves as Editor-in-Chief of the international peer-reviewed journal “Human Genomics and Proteomics” and Communicating Editor for “Human Mutation”. He has been a member of several international boards and committees and he is the organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”. He has given several lectures in international conferences as invited speaker and his research projects received funding from national and international funding agencies.
Organisation: Center for Genetic & Genomic Medicine
Position: Professor and founding Director
Ming Qi, PhD, FACMG
Professor and founding Director
Center for Genetic & Genomic Medicine
Zhejiang University Medical School First Affiliated Hospital, China
Chief Scientist, Department of Healthcare
Department of Pathology and Lab Med
University of Rochester Medical School, USA
Dr. Qi received his BS from South China Normal University in 1982, and MS from Fudan University, Shanghai in 1985 mentored by Dr. C.C. Tan, the “Father of Genetics at China”. He was successful in the national competition to be a student of the CUSBEA (China-USA Biochemistry / Molecular Biology) Program and received his PhD from University of Pittsburgh in 1991. Dr. Qi did his postdoctoral training in Dr. Stan McKnight’s Lab, University of Washington from 1991-1994. Dr. Qi had his ABMG postdoctoral fellowship in Molecular Genetics with Dr. Peter Byers at University of Washington from 1994-1998 and was certified in clinical molecular genetics by American Board of Medical Genetics in 1999. He is a Fellow of American College of Medical Genetics. He joined the faculty of University of Rochester Medical School in 1998 as a tenure tract assistant professor. Dr. Qi had serve as a consultant of Harvard Medical School-Partner Center for Genetics and Genomics and Visiting Geneticist (acting co-director) of the Laboratory of Molecular Medicine in 2006. Dr. Qi has about 50 peer-reviewed publications including PNAS, Cell, Human Mol Genetics, JAMA, Circulation, Am J Med Genet, Human Mutation, etc. He is the chief advisor of Chinese National Gene Health Committee, and the coordinator of the international Human Variome Project Chinese Consortium. He is editorial board members of several international journals including Human Mutation, and ANE. He also serves as a reviewer for a number of international journals.
Organisation: African Society for Human Genetics
Position: Executive Board
Raj Ramesar is Professor and Head of the Division of Human Genetics at the University of Cape Town and its Allied Hospitals in South Africa. This facility has wide-ranging clinical responsibilities from the quaternary and tertiary care levels, to extensive rural outreach programmes, in addition to diagnostic and research capabilities. His interest is in using the exciting developments in the field of genomic sciences to investigate human biodiversity. Africa offers the opportunity to use population lineages in all of their richness towards identifying aspects of human biology, that have to do with both health and disease.
As the Director of the MRC Human Genetics Research Unit, the emphasis of his research has been on disease susceptibility in South African populations, progressing from the commonly recognised inherited diseases, to those that are more complex yet more common and relevant to a large burden of disease. In this regard, his most recent research enterprise is embodied in a large scale project entitled: ‘Human Diversity and Health’. As Director of the national Colorectal Cancer Research Consortium his focus has been on the genetics of familial colorectal cancers, and the most effective translation of laboratory findings to the field for optimum benefit of patients and their kin. In this regard Raj recently received the (Vice Chancellor’s) Alan Pifer Award for ‘outstanding research in cancer genetics which shows relevance to the advancement of South Africa’s disadvantaged populations’. His most recent research involves whole exomic and whole genome sequencing for disorders seen in South Africa, as well as investigating responses to drugs in Southern African populations. Apart from being on the editorial board of several international journals, Raj serves on the Executive of the African Society for Human Genetics, and is its Liaison Officer to the International Federation of Human Genetics Societies. As Chair of the Local Organising Committee, he recently organised the Joint Conference of the African and Southern African Societies in Cape Town (www.humangenetics2011.org). Raj also led a successful bid to host the International Congress of Human Genetics in Cape Town in 2021. He serves on several international advisory panels pertaining to genomic research, including that for :Human Heredity and Health: Africa (or H3Africa). He is married to Jenny, who is an academic in the Faculty of Health Sciences at UCT, and they have two sons (19y and 17y) and a daughter (14y).
Organisation: Cedars-Sinai Medical Center
Position: Steven Spielberg Chair and Distinguished Professor of Pediatrics and Director of the Medical Genetics Institute
David L. Rimoin, MD.PhD.
Dr. David L. Rimoin is the Steven Spielberg Chair and Distinguished Professor of Pediatrics and Director of the Medical Genetics Institute at Cedars-Sinai Medical Center and Professor of Pediatrics, Medicine and Human Genetics and Director of the UCLA Intercampus Medical Genetics Training Program at the David Geffen School of Medicine at UCLA. He received his MD and MSc in Genetics at McGill University, his PhD in Human Genetics at Johns Hopkins University and trained in internal medicine at the Royal Victoria Hospital in Montreal and the Johns Hopkins Hospital. He was the Founding President of the American Board of Medical Genetics and the American College of Medical Genetics, as well as the President of the American Society of Human Genetics, American College of Medical Genetics Foundation, the Western Society for Pediatric Research and the Western Society for Clinical Investigation. He has published over 410 research papers in peer reviewed journals and edited 11 books, including Emery and Rimoin’s Principles and Practice of Medical Genetics, now in its fifth edition. Dr Rimoin’s research has been directed toward understanding the basic mechanisms and clinical management of numerous genetic disorders, including the genetics of common diseases, genetic disorders of the endocrine glands and the genetics of connective tissue and skeletal disorders. He has been elected to the Johns Hopkins Society of Scholars and the Institute of Medicine and was the recipient of the Ross Outstanding Young Investigator Award from the Western Society of Pediatric Research, The Mead Johnson Award for Research in Pediatrics from the American Academy of Pediatrics, the Colonel Harland Saunders Award for Research in Genetics from the March of Dimes, the Pioneer of Medicine Award from Cedars-Sinai Medical Center, the UCLA Medical Alumni Association’s Award for Extraordinary Merit, the first ever “Leadership Award’ from the American Society of Human Genetics and named a “Legend of the Los Angeles Biomedical Institute.” He recently received the “Lifetime Achievement Award” of the American College of Medical Genetics and was awarded the “Distinguished Alumnus Award” from Johns Hopkins University and the Mayo Soley Award from the Western Society for Clinical Investigation.
Organisation: Institute of Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin
Position: Research Leader
Peter Robinson studied Mathematics and Computer Science at Columbia University in New York and obtaines an MD at the University of Pennsylvania in Philadelphia, PA. During his training as a Pediatrician at the Charité - Universitätsmedizin Berlin, Dr Robinson became interested in molecular genetics research and bioinformatics. Currently, Dr Robinson leads a research group at the Institute of Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin. Highlights in recent years have included the development of a novel treatment strategy for Marfan syndrome in mice based on antagonism of a class of bioactive motivs that are common in fragments of elastin and fibrillin-1, the identification of novel disease genes for a form of ataxia (CA8) and hyperphosphatasia with mental retardation syndrome (PIGV). Dr Robinson's computational group has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. A major current focus lies in the development of algorithms for using phenotype and genotype information for diagnostics and computational biology.
Organisation: Tribhuvan University, Nepal
Position: Associate Professor of Zoology and Molecular Biology
Dr. Tilak R. Shrestha has been an Associate Professor of Zoology and Molecular Biology at Tribhuvan University, Nepal since 1983. He did MS in Molecular Biology from Belgium and pre-doctoral researches from Germany and Belgium. He received PhD degree in transgenesis from Center for Cellular and Molecular Biology (CCMB), Hyderabad, India under the Jawaharlal Nehru University (JNU). He has been a UNU fellow (Guatemala/Japan), UNESCO fellow (Switzerland and Pakistan), DAAD fellow (Germany), VUBAROUS fellow (Belgium), TWAS-CSIR fellow (Italy/India), FAOBMB fellow (Melbourne and India), and CISSM fellow (Univ. of Maryland, USA), Member of Science Advisory Board (SAB), USA and Chulavorn Research Institute fellow (Thailand). Dr. Shrestha is a founder General Secretary of Nepal Molecular Biology Society (since 1995) and has been a delegate of FAOBMB till date. He successfully got IUBMB membership for Nepal society. He is a member of ApBionet, Human Genome Organization (HUGO) and country representative of Human Variome Project (from HVP, Melbourne, Australia). He worked on mutational research in Alzheimerís Disease in Belgium and now an initiator of mutational research of human disease in Nepal. He has significantly contributed in the foundation and popularization of Molecular Biology and Genetic Engineering in Nepal since 1988. He is credited to 12 publications in national and international journal and three manuscripts under preparation. Presently he is concentrated to establish research in human genetic link, human variome and mutational research leading to the Genome Foundation in Nepal.
Organisation: Human Variome Project International Ltd
Position: Communications Officer
Timothy D. Smith is the Communications Officer for Human Variome Project International Ltd., the Coordinating Office for the Human Variome Project. He studied biochemistry and molecular biology at the University of Melbourne before starting his PhD which looks at how the process of genetic variation database curation is conducted and investigates novel methods for supporting that process through the application of different technologies. He is the author of the VariVis software program for genetic data visualisation.
Timothy is also the Laboratory Liaison Officer for the Human Variome Project Australian Node, a project led by the Genomic Disorders Research Centre at the Florey Neurosciences Institutes to provide a mechanism for diagnostic labs and clinicians to share information on genetic variations discovered in Australian patients.
Organisation: Galician Public Foundation of Genomic Medicine
Position: Neurogenetics Group Leader
Dr. María-Jesús Sobrido is a Neurologist and phD in Molecular Genetics. After a postdoctoral period and Neurogenetics Fellowship at UCLA, Dr. Sobrido obtained a Miguel Servet Contract from the Institute of Health Carlos III for the incorporation of senior researchers in the Spanish National Health System. She currently leads the Neurogenetics Group in the Galician Public Foundation of Genomic Medicine (FPGMX), an institution directed by Prof. Ángel Carracedo within the University Clinical Hospital of Santiago de Compostela. The main interest of her group is the study of the genes, mutations and molecular mechanisms underlying neurodegenerative disorders, especially spinocerebellar ataxias, spastic paraparesis and other movement disorders. The group has tight links with clinical and genetic diagnosis in Neurology, and thus is also devoted to applying emergent technologies for the improvement of diagnostic algorithms in Neurogenetics. The FPGMX has strong genomic capabilities and next generation platforms, which the group is currently applying to study genetically heterogeneous neurological conditions. Much of Dr. Sobrido´s research has a translational component for genetic diagnosis and counselling. The group has started a mutation database on Cerebrotendinous Xanthomatosis and is involved with national and international consortia aimed at the development of variant databases for neurological traits. In this line, collaborations with computer engineering and bioinformatics researchers have led to some work to contribute to the development of phenotype ontologies for neurogenetic disorders. Dr. Sobrido´s group belongs to the CIBERER, a Spanish network centre for research on rare diseases. Her research team is also pursuing some studies into the genetic predisposition to complex neurological diseases (Parkinson´s disease, migraine), as well as pharmacogenetics in Neurology. Dr. Sobrido is a member of the Spanish Association of Human Genetics, as well as to the Spanish Society of Neurology, where she has been the coordinator of the Neurogenetics study group. She is one of the founder and board members of the Spanish Neurogenetics Association created in 2011 and has been actively contributing to the establishment of a Neurogenetics forum within the Human Variome Project.
Organisation: The Molecular Sciences Institute, 2168 Shattuck Avenue, 2nd Floor, Berkeley, CA 94704, USA
Position: Nobel Prize Winner
Sydney Brenner, born January 13, 1927, South Africa. Nationality: British
Address: The Molecular Sciences Institute, 2168 Shattuck Avenue, 2nd Floor, Berkeley, CA 94704, USA
Academic Education and Appointments
1947 MSc University of Witwatersrand, South Africa
1951 MB, BCh, University of Witwatersrand, South Africa
1954 DPhil, Oxford University, UK
1979-86 Director, Medical Research Council Laboratory of Molecular Biology, Cambridge, England
1986-91 Director, Medical Research Council Molecular Genetics Unit, Cambridge, England
1996- President and Director of Science, The Molecular Sciences Institute, La Jolla and Berkeley
2000- Distinguished Research Professor, The Salk Institute, La Jolla, USA
Selected Honours and Awards
1965 Fellow of the Royal Society (FRS)
1971 Albert Lasker Medical Research Award
1974 Royal Medal, Royal Society of London
1976 Honorary DSc, University of Chicago
1978 Gairdner Foundation International Award, Canada
1980 Krebs Medal, Federation of European Biochemical Societies
1981 Ciba Medal, Biochemical Society
1985 Foreign Member of Real Academia de Ciencias, Spain
1986 Rosenstiel Award, Brandeis University, USA
1987 Prix Louis Jeantet de Medecine, Switzerland
1987 Harvey Prize, Technion - Israel Institute of Technology
1988 Waterford Bio-Medical Science Award, The Research Institute of Scripps Clinic
1988 External Scientific Member of the Max-Planck Society
1989 Honorary Fellow of the Indian Academy of Sciences
1989 Honorary Member of the Chinese Society of Genetics, Taiwan
1990 Kyoto Prize
1991 Gairdner Foundation International Award, Canada
1992 King Faisal International Prize for Science, King Faisal Foundation
1992 Associe Etranger, Académie des Sciences, Paris, France
2000 Albert Lasker Award for Special Achievement in Medical Science
2001 Novartis Drew Award In Biomedical Research The Nobel Assembly at Karolinska Institutet
The Nobel Prize in Physiology or Medicine 2002
Sydney Brenner, H. Robert Horvitz, John E. Sulston
Organisation: VIB Department of Molecular Genetics, University of Antwerp
Since the early start of her research, Christine Van Broeckhoven has been involved in the human molecular genetics of complex diseases of central and peripheral nervous system. Today, she is best known for her pioneering research in neurodegenerative dementias in which she made several major contribution e.g. pinpointing the amyloid precursor protein (APP) as a key protein in the Alzheimer disease process, and most recently the identification of a major role for the growth factor, progranulin, in frontotemporal neurodegeneration. She has been awarded several scientific prizes for her molecular genetics work like the Potamkin Prize in 1993 for her contribution to the identification of APP as a gene for Alzheimer's disease. In 1995, she was awarded the 5-yearly Joseph Maisin Prize by the Belgian Fund for Scientific Research for her scientific oeuvre in Molecular Genetics. In 2006 she was awarded the International Award for Women in Science by L'Oréal/UNESCO. She is a member of the Royal Flemish Academy of Sciences and the Arts of Belgium. In 2006, she was honored by the King of Belgium with the title of Grand Officer in the Order of Léopold, and in 2009 with the title of Chevalier dans la Légion d'Honneur by the President of France.
Organisation: Institute of Biomedical Technology, University of Tampere, Finland and BioMediTech, Tampere, Finland
Position: Professor of Bioinformatics
Mauno Vihinen, Institute of Biomedical Technology, University of Tampere, Finland and BioMediTech, Tampere, Finland. Founding member of HGVS. HVP Interim Scientific Advisory Committee member.
Prof. Vihinen has been involved on mutation and variation research for over 15 years. The research interest is to understand mechanisms of disease-related variations at different levels (DNA/RNA/protein, structure/function/interaction/etc). The group has analysed effects of very large numbers of variations. For these studies, and as a service for the worldwide community, we do maintain about 140 locus-specific variation databases with over 10,000 patient cases for primary immunodeficiencies. In addition to the immunodeficiencies, we curate registries also for protein kinase domain and Src homology 2 (Src2) domain variations. The team has applied and developed bioinformatic tools for predicting which variants are pathogenic and which are benign. Disease-associated variations are further investigated to find out likely mechanisms behind the disease. The latest achievements in variation field include development of Variation Ontology (VariO) for systematic description and annotation of variation effects, and development of an integrated prediction tool called Pathogenic-Or-Not -Pipeline available at http://bioinf.uta.fi/PON-P.
Organisation: Medical University, Innsbruck, Austria
Position: Head of the molecular diagnostic laboratory
Martina Witsch-Baumgartner Heads the molecular diagnostic laboratory at the Medical University in Innsbruck, Austria. We are regarding a large spectrum of inherited diseases performing nearly 100 different gene analyses by Real-time-PCR, TP-PCR, DNA and RNA sequencing, MLPA, and Southern Blot analysis. Hence we recognize the importance of sharing genetic data. The professional expertise I acquired by university degree in Biology and Human/Medical Genetics in courses at the Universities of Paris XII (France), T¸bingen (Germany), and Innsbruck (Austria). I performed Master thesis in the Cytogenetic lab of Prof. Bernard Dutrillaux at the Institute Curie in Paris (France), the Doctoral Thesis was developed in Biochemistry at the lab of Prof. Manfred Schweiger in Innsbruck (Austria). As postdoc I worked at the Institute Gaslini with Prof. Giovanni Romeo in Genoa (Italy). Professional development continued in Innsbruck (Austria) at the Childrenís Hospital and the Institute of Medical/Human Genetics. Here I specialized in Human Molecular Genetics.
In order to understand contexts in Medical Genetics in my opinion it is most important to acquire a profound education that encompasses medical aspects plus knowledge in molecular biology and biochemistry. This is true for medical doctors as well as for scientists construing the molecular data that are obtained by rapidly evolving sophisticated methods.
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