|
Current HUGO Council Members in alphabetical order.
Prof Stylianos E. Antonarakis, Switzerland (2010-2012/ Term 3)
Stylianos Antonarakis is the Director of the Division of Medical Genetics at the University of Geneva in Switzerland. Before moving to Geneva he was a professor at Johns Hopkins University in the USA. His lab participates in many projects involving the genetics of monogenic and polygenic disorders as well as the annotation of the human genome and particularly of human chromosome 21. He is on the editorial board of many high profile journals such as Genome Research and Genomics and has recently served as president of the European Society for Human Genetics. He has published more than 470 papers in peer-reviewed journals since 1982.
Dr Samir K. Brahmachari, India (2008-2010/ Term 2)
Dr. Samir K. Brahmachari completed a Ph.D. in Molecular Biophysics and specializes in Structural Biology and Genome Analysis. He is presently the Director of Institute of Genomics & Integrative Biology (IGIB), Delhi under the Council of Scientific and Industrial Research, India. Earlier he was a Professor of Molecular Biophysics and genetic Engineering at Indian Institute of Science, Bangalore.
Institute of Science, Bangalore. Professor Brahmachari has received many prestigious National and International Awards for his contributions in Science. He is a Fellow of Indian National Science Academy and Indian Academy of Science. He was elected a member of the Human Genome Organization, 1991 and to the HUGO Council in 2004; member of various Committees, Govt. of India; member, expert group on Human Rights and Biotechnology, United Nations and member of various International Committees. He has also been involved in issues relating to Genomics research, ethics and Human Rights. As a member of the steering committee of the International Human Rights Commission he has contributed to the formulation of the draft guidelines in terms of benefit sharing by the populations that are the part of the research endeavor as resources of genetic material and addressed issues of unethical exploitation of genetic resources of the Third world. He has contributed significantly in promoting industry-academia interactions through novel program of knowledge partnerships and.
He heads the Functional Genomics Unit at IGIB. He has demonstrated the structural flexibility of DNA and the role of repetitive sequences in DNA transactions much before the discovery of repeats association with genetic disorders. His work on the structural flexibility of telomeric repeat sequences is one of the well-cited contribution. He has made major contribution in molecular analysis of genetic disorders associated with trinucleotide amplification and repetitive sequence instability. Using a combination of structural biology, computational genomics and population based polymorphism scanning he and his group have provided a novel structural frame work for understanding the etiology of several neurological disorders. One of the outcomes of these efforts has been the demonstration that loss of triplet repeat interruption as the primary step in ataxia SCA 2 which is followed by repeat expansion. Dr. Brahmachari and his group also identified a susceptibility locus on chromosome 22 using a novel positional candidate gene approach for schizophrenia and bipolar disorder patients in the Indian population and have for the first time identified a nonsense mutation in synaptogyrin I gene, a component for presynaptic pathway in schizophrenia patients. His group has developed novel in Silico bioinformatics tools to identify functional signature of hypothetical proteins and novel drug targets. For further details visit http://www.igib.res.in/
Prof Anthony Brookes, UK (2008-2010/ Term 2)
Professor Brookes is an internationally recognized leader in genomics and bioinformatics, having made significant contributions to method development, disease and population genetics, DNA variation analysis, and database systems for organizing genomics information. His publications include over 100 peer-reviewed articles and reviews. Most recently, he uncovered a major new aspect of DNA polymorphism comprising abundant copy-number differences for many short and long-range sections of the human genome. Professor Brookes has filed 6 patent applications on cloning, genotyping, and DNA analysis methods, and he has also founded the company DynaMetrix which markets genotyping products and solutions.
Professor Brookes currently holds a Chair in Bioinformatics and Genomics at the University of Leicester in the UK, and an Adjunct Professorship in the Karolinska Institute in Sweden. He serves on the HUGO Council and is an elected member of the HUGO Human Genome Annotation Committee. He additionally acts as communicating Editor for Human Mutation. Other significant achievements include the highly acclaimed international Meeting series on "Single Nucleotide Polymorphism & Complex Genome Analysis", invention of the Dynamic Allele-Specific Hybridization genotyping technology, and creation of the Human Genome Variation database.Professor Brookes began his research career in the UK by studying Medicine and Medical Biochemistry (1st class qualification) at Manchester University, and then a molecular genetics PhD at the Imperial Cancer Research Fund and the University of London. He subsequently established a research group in the MRC Human Genetics Unit in Edinburgh, where amongst other things his team was involved in identifying the Presenilin-1 gene that causes Alzheimers Disease. He then moved to Sweden, first to Uppsala University where he received Docenture in Genetics, and then to the Karolinska Institute where he was awarded both Docenture and a Professorship in Genome Research.
Dr Elspeth Bruford, UK (2009-2011/ Term 2)
Elspeth A. Bruford received her Ph.D. mapping retinal diseases at the MRC Human Genetics Unit, Edinburgh. After working in publishing, she moved to University College London in 1998 to join the HUGO Gene Nomenclature Committee, of which she is now the Project Co-ordinator. From 2000-2007 she was also the Managing Editor of the Annals of Human Genetics. In 2007 Elspeth gained funding from the Wellcome Trust and NHGRI to relocate the HGNC to the European Bioinformatics Institute at Hinxton, UK. Elspeth plays an active role in the annotation of the human genome, including collaborations with all the major human genome sequencing centres and participation in the H-Invitational, and has attended all of the last eight HGM meetings.
Dr David R. Cox, USA (2009-2011, Term 3)
David serves as Chief Scientific Officer for BBC's newly-created Target Generation Unit. This new unit brings together human genetics, systems biology, and cell biology, combining internal capabilities with outside collaborations, to focus on increasing preclinical target validation with the aim of significantly improving clinical survival. David is a co-founder of Perlegen, and was most recently Chief Scientific Officer of the company since its formation in 2000. David was Professor of Genetics and Pediatrics at the Stanford University School of Medicine as well as the co-director of the Stanford Genome Center. He obtained his A.B. and M.S. degrees from Brown University in Rhode Island and his M.D. and Ph.D. degrees from the University of Washington, Seattle. He completed a Pediatric Residency at the Yale-New Haven Hospital in New Haven, Connecticut and was a Fellow in both genetics and pediatrics at the University of California, San Francisco. David is certified by the American Board of Pediatrics and the American Board of Medical Genetics. He was an active participant in the large scale mapping and sequencing efforts of the Human Genome Project while carrying out research involving the molecular basis of human genetic disease. David has been a member of several commissions and boards, including the National Bioethics Advisory Commission (NBAC) and the Health Sciences Policy Board of the Institute of Medicine. He has also served on a number of international committees, including the Council of the Human Genome Organization (HUGO). He has authored over 100 peer-reviewed scientific publications and has served on numerous editorial boards. Dr. Cox's honors include election to the Institute of Medicine of the National Academy of Sciences.
Dr Yoshihide Hayashizaki, Japan (2009-2011/ Term 1) Yoshihide Hayashizaki received his M.D. and Ph.D. from Osaka University Medical School in 1982 and 1986, respectively.In 1992, he joined RIKEN, and was appointed Project Director for the RIKEN Genome Project in 1995. Since then he has been taken a transversal data-driven approach to analyze transcriptomes by developing unique technologies including a series of full-length cDNA technologies. With this approach, he has established large amount of full-length cDNA clone bank. This activity was followed by organization of FANTOM (Functional Annotation of Mammalian), an international consortium, originally to annotate a large number of cDNA and subsequently expanded to transcriptome and network analysis. FANTOM activities revealed that more than 63% of the genome — not just the ~1.5% fraction that are protein-coding exons — is transcribed as RNA. In 2008, he appointed to the Director of the Omics Science Center. The center was established to link a variety of omics subdisciplines to molecular networks and pathways in order to advance our understanding of biological phenomena as systems at the molecular level.
Prof Veronica Van Heyningen, UK (2010-2012/ Term 2)
Veronica van Heyningen is a Section Head at the Medical Research Council’s Human Genetics Unit – part of the Institute of Genetics and Molecular Medicine in Edinburgh. She maintains a wide interest in genetic mechanisms and broad aspects of biology that can be gleaned from the study of human genetic disease. For the past two decades she has studied the underlying genes implicated in human developmental eye anomalies. The identification of three major developmental regulator genes: PAX6, SOX2 and OTX2, all implicated in brain as well as eye development, have led to extensive mutational studies in humans and dissection of gene function in model organisms. Detailed patient analysis led to early observations of how chromosomal breakpoints some way outside certain genes can lead to altered expression of those genes, and to the study of distant DNA elements regulating gene expression. Observing the variability and occasional absence of phenotype in cases with known pathological mutations, led us to study mechanisms of phenotype modulation and gene-environment interactions. Comparisons between different model organisms, including humans, also revealed some of the mechanisms of evolutionary change. More than 200 publications along the way have led to funding awards, invitations to participate in interesting meetings and some honours. Veronica van Heyningen was a Beit Memorial fellow immediately after finishing her PhD on early human gene mapping in Oxford under the guidance of Walter Bodmer. She has been a long standing member of HUGO since its earliest days. From 1993, she was a Howard Hughes International Research Scholar for five years, allowing her to build up her group. Since 1995 she has been an Honorary Professor at the University of Edinburgh. She was elected a Fellow of the Royal Society of Edinburgh in 1997, a member of EMBO in 2002 and a Fellow of the Royal Society in 2007. She participated in the Human Genetics Commission, which provides advice to the UK government on social and ethical issues in genetics. She is a past President of the European Society of human Genetics and current President of the Genetics Society. She continues to enjoy the fast moving science of human molecular genetics and the mentoring of young scientists entering the field, and has acquired a renewed interest in human development through her grandchildren.
Dr. Gerardo Jimenez-Sanchez, Mexico (2009-2011/ Term 1) Dr. Gerardo Jimenez-Sanchez was born in Mexico City. He is a medical doctor with a Ph.D. in Human Genetics and Molecular Biology from Johns Hopkins and training in business administration from the IPADE Business School. He is a certified Pediatrician and a member of the National Academy of Medicine, the American Society of Human Genetics, the American Society of Gene Therapy, the Society for Inherited Metabolic Disease, the European Society of Inborn Errors of Metabolism. He is Director General of the National Institute of Genomic Medicine (INMEGEN) in Mexico and Chairman of the Working Party on Biotechnology at the Organization for Economic Cooperation and Development (OECD). He is the leading investigator in the Mexican Genomic Diversity Project and the Mexican Medical Resequencing Initiative. Dr. Jimenez-Sanchez is Professor of Genomic Medicine at the National Autonomous University of Mexico (UNAM). He serves as Council member of the Human Genome Organisation (HUGO), as well as on the Board of the Public Population Projects in Genetics (P3G). He is the founder President of the Mexican Society of Genomic Medicine and the Regional Editor for Latin America and the Caribbean of the Journal Genomic Medicine.
Prof Elza Khusnutdinova, Russia (2008-2010/ Term 1)
Professor Elza Khusnutdinova is one of the leading molecular geneticists in Russian Federation. She is the Head of Genomics Department of the Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences. She is involved in human genome studies since 1988. The focus of her research is study of genetic variation and genetic history of populations from Russia, North Caucasus and Central Asia using Y-chromosome SNPs and STR markers as well as mtDNA and autosomal loci. The data of her research group were received on typing of more than 15 000 samples of 50 populations including ethnic specific cohorts. Using study samples of patients with hereditary diseases from the Volga-Ural region of Russia the spectrum and frequency of genes mutations responsible for cystic fibrosis, phenylketonuria, Wilson disease, Duchenne muscular dystrophy, Marfan syndrome, non-syndromic hereditary deafness, myotonic dystrophy, Huntington disease, X-fragile syndrome were characterized. She has published over 400 articles and 10 monographs, supervised 64 Ph.D. thesis, won numerous awards, including premium of acad. A.A. Baev for achievements in range of learning "Human Genome" (1999), competition of the best publications in magazines MAIK/SCIENCE, premium of Coordination Advice "Technologies of alive systems" of Russian Academy of Sciences (2001). She has been the member of Russian Fund of Basic Research (RFBR) and INTAS Advisory Committee, member of International Scientific Societies - HUGO and ESHG, member of the Editorial Boards of scientific journals "Molekulyarnaya Biologia" (Russian Journal of Molecular Biology) and "Balkan Journal of Medical Genetics".She has attended all of the last ten HGM meetings.
Dr Dhavendra Kumar , UK (2010-2012/ Term 1)
Dr. Dhavendra Kumar is Consultant in Clinical Genetics at the University Hospital of Wales and Hon. Senior Research Fellow in the Institute of Medical Genetics, Cardiff University, Cardiff, Wales, United Kingdom. He is the lead Clinical Geneticist for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King George’s Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians of London (FRCP) and Ireland (FRCPI) and Paediatrics and Child Health (FRCPCH).
He has authored/edited Genetic disorders of the Indian Subcontinent-Springer/Kluwer, 2004; Genomics and Clinical Medicine- Oxford University Press, 2008; Principles and Practice of Clinical Cardiovascular Genetics-Oxford University Press, 2010,and Genomics and Health in Developing Countries, Oxford University Press (In preparation). He has several peer-reviewed publications in pediatrics and clinical genetics. He established and developed a new biomedical journal (Genomic Medicine-Springer) that led to setting up the official journal of the Human Genome Organization (‘The HUGO Journal’). He serves on the editorial board of the HUGO Journal as Editor in Chief. He is also serves as a member of the publications committee of HUGO.
Dr. Kumar’s current clinical and research interests include clinical cardiovascular genetics, applications of genomics in medicine and human health and promoting genetics and genomics for improving the health in emerging economies of the developing world. He is currently actively involved in promoting medical genetics and genomics in developing countries through education programs and establishing a comprehensive database on genomic variation and genetic disorders across several developing countries.
Prof Doron Lancet, Israel (2010-2012/ Term 2)
Prof. Doron Lancet is a genome and bioinformatics researcher at the Weizmann Institute of Science. He headed there the Department of Membrane Research and Biophysics, and is currently Professor at the department of Molecular Genetics, where he studies the genetics and genome organization of the olfactory receptor gene superfamily. Since 1992 Lancet has been active in the Israeli and international genome scenes, and is currently Director of Israel's National Knowledge Center for Genomics, and of the Crown Human Genome Center at the Weizmann Institute. In this realm, his research has included the discovery of genes for monogenic diseases, as well as high throughput SNP scoring for elucidating polygenic diseases and pharmacogenetics. In the realms of bioinformatics, Lancet and group have developed GeneCards, a widely-used web-based human gene compendium. Lancet is a member of the European Molecular Biology Organization (EMBO) since 1996 and of HUGO since 1994. He has won international prizes in the field of olfaction, and is author of more than 180 papers and reviews.
Dr Felix Li Jin, China (2009-2011/ Term 1)
Li Jin is a Chinese geneticist who led the research that concluded that all East Asians, including the Chinese, originated from Africa, adding support to the recent single-origin hypothesis of which he is considered a leading proponent. His team analyzed the Y chromosomes of males around China and compared this group with those of Southeast Asians and Africans. Results of the analysis suggested that Southeast Asia was the first destination of the migration from Africa to Asia which began approximately 60,000 years ago; from there, migrants moved into Southern China, then crossing the Yangtze River to Northern China. The 1998 study, which used genetic markers called microsatellites to compare Chinese populations, did not support an independent origin of Homo sapiens in China. The findings contradict the hypothesis that Peking Man (Homo erectus) was the ancestor of the Chinese people. Jin is a professor and Dean of School of Life Sciences of Fudan University, as well as a professor at the National Human Genome Center in Shanghai. Jin is the principal investigator of East Asian populations for the Genographic Project which collects DNA samples to map historical human migration patterns around the world. His research interests are in human and medical genetics, population genetics, genomics & bioinformatics, anthropology.
Prof Edison T. Liu, Singapore (2010-2012/ Term 2) President
Dr. Edison Liu was born in Hong Kong, China, and emigrated to the United States in 1957. He received his bachelor's degree (Phi Beta Kappa) in chemistry and psychology from Stanford University where he remained to complete his M.D. in 1978. This was followed by internship and residency in internal medicine at Washington University, St. Louis, and clinical cancer fellowships at Stanford University (Oncology), and at the University of California at San Francisco (Hematology). He then pursued post-doctoral studies as a Damon-Runyan Cancer Research Fellow at the University of California at San Francisco in the laboratory of Dr. J. Michael Bishop identifying transforming genes in human leukemic states. In 1987 when he joined the faculty of Medicine at the University of North Carolina at Chapel Hill. There, he developed programs in leukemia and breast cancer research centering on molecular epidemiology and cell signalling. In 2001, Dr. Liu assumed the position of Executive Director, Genome Institute of Singapore which is a flagship programme of the Biomedical Sciences Initiative of Singapore. At the GIS, he is building an international research institute of 300 individuals focused on integrating genomic sciences with cell and medical biology. His scientific investigations have spanned molecular epidemiology to molecular biochemistry of human oncogenes and his current scientific research investigates the dynamics of whole genome gene transcription that explains biological states in cancer.
Prof Mark McCarthy, UK (2008-2010/ Term 1)
Mark McCarthy is Robert Turner Professor of Diabetes at Oxford University, based at the Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) and at the Wellcome Trust Centre for Human Genetics. His work on the genetics and genomic basis of type 2 diabetes seeks to define the relationship between genetic variation, environment, intermediate phenotypes, and clinical disease, in the belief that such information will translate into a significant impact on clinical care for people with diabetes, through more rational and effective deployment of available preventative and therapeutic modalities.
He obtained his medical degree at the University of Cambridge and postgraduate clinical training in general medicine, diabetes and endocrinology at the London Hospital. Following research training with – amongst others – Newton Morton and Eric Lander, he took up an appointment as Senior Lecturer (subsequently Professor in Genomic Medicine) at Imperial College in 1995, moving to Oxford as the Robert Turner Professor of Diabetes in 2002. In the past decade, his group has become established as one of the leading international teams working on the genetics of T2D, with expertise extending from physiological characterisation through to high-throughput genomic analysis and related issues in computational biology. Prof McCarthy currently leads the T2D component of the Wellcome Trust Case Control Consortium, and has been intimately involved in many of the recent discoveries generated by the application of genome wide association approaches to diabetes, obesity and related traits. His group is increasingly involved in efforts to understand how such information can be translated into advances in clinical management, and in extending these studies beyond the European context.
He has a strong commitment to the wider research community, having served as a member and chair of the Diabetes UK Research Committee, and on Wellcome and MRC panels. He serves on the Editorial Board of Diabetes, Diabetologia, PLoS Medicine, Human Molecular Genetics and several other journals.
Dr Stephen Scherer, Canada (2009-2011/ Term 2)
Dr. Stephen Scherer, PhD, at The Hospital for Sick Children and University of Toronto, has made numerous contributions towards understanding the composition of the human genome for studies of genetic disease. His recent work characterizes structural variation in the human genome, and examines the role genetics has in autism. Long-standing endeavours include the study of human chromosome 7 as a model of the chromosomal basis of disease, and building genomics infrastructure to facilitate biomedical research. He has published over 200 peer-reviewed articles and won numerous awards including an Honorary Doctorate (University of Windsor), Canada's Top 40 Under 40 Award, and the 2004 Steacie Prize in the Natural Sciences. He is an Investigator of the Canadian Institutes of Health Research, International Scholar of the Howard Hughes Medical Institute, and currently chairs Genome Canada's Science Advisory Board.
Dr Todd Taylor, Japan (2010-2012/ Term 2)
Todd Taylor is Team Leader of the MetaSystems Research Team in the Computational Systems Biology Research Group at RIKEN Advanced Science Institute, Yokohama, Japan. His team's main area of research is the analysis of and development of tools for metagenomic sequence data derived from various human health- and environmental-related microbial communities. He has been a research scientist at RIKEN since 1998, and received his Ph.D. in Molecular and Medical Genetics from Oregon Health Sciences University, Portland, Oregon. During graduate school he conducted linkage analysis studies for various disorders and was responsible for the initial identification and mapping of the locus for Hallervorden-Spatz syndrome, a rare autosomal recessive disorder. As an active member of the International Human Genome Sequencing Consortium, Todd served as coordinator for chromosomes 11, 18p, and 21. He also helped to coordinate the finishing of chimpanzee chromosomes 22 and Y. Todd has been a HUGO member since 1999 and has served on the HUGO council since 2006.
Dr Martin Vingron, Germany (2010-2012/ Term 1)
Martin Vingron is a director at the Max Planck Institute for Molecular Genetics in Berlin, Germany, and honorary professor at Freie Universität Berlin. He studied Mathematics at Vienna University in Austria and received his PhD degree in 1991 from Heidelberg University and EMBL in Heidelberg, Germany. He did two postdocs, at USC in Los Angeles and at the German National Research Center for Computer Science (GMD) near Bonn, respectively. From 1995 to 2000 he was as Head of the Division of Theoretical Bioinformatics at Deutsches Krebsforschungszentrum (DKFZ), In 2000 he took his current position as Director at the Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology. Since 2006 he has also acted as a director of the CAS-MPG Partner Institute for Computational Biology (PICB) in Shanghai, China.
In 2004 Vingron was elected a Member of the German National Academy of Natural Scientists Leopoldina and he received the prestigious Max Planck Research Award. He is the author of more than 100 publications. He works as a referee for both biological and Mathematics/Computer Science journals. Since 2009, Vingron has been Chair of the Steering Committee of the International Conference on Computational Molecular Biology RECOMB. He is on numerous advisory boards for institutions like EMBL-EBI, the Helsinki Institute for Information Technology, or the Computational Biology Unit in Bergen, Norway. His area of expertise is Computational Molecular Biology with an emphasis on transcriptional regulation, applying methods from algorithmics and statistical data analysis.
|