Current HUGO Council Members in alphabetical order.
Stylianos E. Antonarakis, Switzerland (2013-2015/ Term 1)
Stylianos E. Antonarakis is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and the founding director of iGE3 (institute of Genetics and Genomics of Geneva). He is a medical, molecular, human geneticist, physician-scientist, who studied extensively the relationship between genomic and phenotypic variation. He received his MD (1975) and DSc (1982) from the University of Athens Medical School, and after a specialization in Pediatrics in the University Hospital, Athens Greece, he moved to Baltimore, Maryland to the program of Medical Genetics at the Johns Hopkins University School of Medicine with Haig H. Kazazian and Victor McKusick (1980-1983). He joined the faculty of the Johns Hopkins University in 1983 and rose to full professor of Pediatric Genetics, Biology and Medicine in 1990. In 1992 he moved to Geneva, Switzerland to chair Genetic Medicine in the University of Geneva. His research work includes the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21. His laboratory participated in the human genome sequence and functional analysis, particularly on chromosome 21. He is an international expert on disorders of chromosome 21, cloning of genes for genetic disorders, development of diagnostic tests, genome structure and function, studies of the genome variability, and conserved non-coding sequences in human DNA. He has published extensively (more than 620 well-cited papers) in the scientific literature, and is co-editor of the current edition of the classic textbook “Genetics in Medicine”; he is listed as one of the highly cited scientists by the ISI institute (more than 40,000 citations; h-index 99). He was the President of the European Society of Human Genetics (2001-2002), member of the HUGO Council and President Elect of HUGO for 2013-2016, foreign member of the Academy of Athens (2003), member of EMBO (2006). He was the co-organizer of the European School of Genetic Medicine, and in the last 28 years taught in the Bar Harbor Genetics Course, Maine. He was awarded the Society of Pediatric Research Young Investigator Award (1984), International Jerome Lejeune Prize (2004), the European Society of Human Genetics Award (2005), and was elected to the Society of Scholars of the Johns Hopkins University (2006), and the American Academy of Physicians (2010). He was awarded the Commander of the Order of Phoenix medal from the Hellenic Democracy (2007). More than 70 talented young scientists were trained in his laboratory (graduate students and postdoctoral fellows); in addition more than 25 young physicians were trained in the Medical Genetics Clinic of his department. With Haig Kazazian he has established one of the first molecular diagnostic laboratories in USA as early as 1982. He is a member of the Swiss National Science Foundation Research Council, and the Chair of the Genetics Review Panel of the EU ERC. His research laboratory was/is supported by grants from the National Institutes of Health, the European Union (including the European Research Council), and the Swiss National Science Foundation and numerous other Foundations including the Gebert and Lejeune Foundations. His is the originator of the World Down Syndrome Day. His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.
Karen B. Avraham, Israel (2013-2015/ Term 1)
Prof. Karen B. Avraham is Vice Dean at the Sackler Faculty of Medicine and Professor of Human Genetics in the Department of Human Molecular Genetics and Biochemistry at Tel Aviv University. Born in Canada and raised in the U.S., Dr. Avraham received her B.A. degree in Biology from Washington University in St. Louis, Missouri, U.S., went on to perform her Ph.D. at the Weizmann Institute of Science in Rehovot, Israel and completed her post-doctoral training at the National Cancer Institute in Frederick, MD, U.S. At Tel Aviv University, Prof. Avraham’s research has centered on the discovery of disease genes, focusing on hereditary hearing loss. Her team takes a comprehensive approach to study the molecular basis of hearing loss, using genetic, developmental, biochemical, cellular and bioinformatic tools. She leads the effort in exome sequencing for the discovery of disease genes to identify mutations that are relevant for the hearing-impaired population. Her group has demonstrated that microRNAs are essential for development and function of inner ear hair cells in vertebrates through microRNA expression, mouse mutants and target identification. Prof. Avraham’s work has led to 83 peer-reviewed manuscripts and 43 reviews and book chapters. She was awarded the Sir Bernard Katz Prize from the Alexander-von Humboldt Foundation in Germany, the Bruno Memorial Prize from the Rothschild Foundation in Israel and in 2011, the Teva Prize for Groundbreaking Research in the Field of Rare Diseases from Teva Pharmaceuticals Industries in Israel.
Ruth Chadwick, UK (2011-2013/ Term 1)
Ruth Chadwick is Director of the ESRC (Economic and Social Sciences Research Council) Centre for Economic and Social Aspects of Genomics (Cesagen), Cardiff University, UK. She also holds a Link Chair between Cardiff Law School and the School of English, Communication and Philosophy (ENCAP). She has co-ordinated a number of projects funded by the European Commission, including the EUROSCREEN projects and co-edits the journal Bioethics and the online journal Genomics, Society and Policy. She is Chair of the Human Genome Organisation Committee on Ethics, Law and Society, and has served as a member of several policy-making and advisory bodies, including the Panel of Eminent Ethical Experts of the Food and Agriculture Organisation of the United Nations (FAO), and the UK Advisory Committee on Novel Foods and Processes (ACNFP). She was editor-in-chief of the award winning Encyclopedia of Applied Ethics (1998), of which a second edition has now been published (2011). She is an Academician of the Academy of Social Sciences and a Fellow of the Hastings Center, New York; of the Society of Biology; of the Royal Society of Arts; and of the Royal Society of Medicine. In 2005 she was the winner of the World Technology Network Award for Ethics for her work on the relationship between scientific developments and ethical frameworks.
Aravinda Chakravarti, USA (2011-2013/ Term 1)
Aravinda Chakravarti, Ph.D. is Director, Center for Complex Disease Genomics and Professor of Medicine, Pediatrics, Molecular Biology & Genetics, and, Biostatistics at the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health. He is the 2008 President of the American Society of Human Genetics, a member of the US National Academy's Institute of Medicine and an Honorary Fellow of the Indian Academy of Sciences. He has been a key participant and architect of the Human Genome, HapMap and 1000 Genomes project. His research is aimed at genome-scale analysis of humans and computational analysis of gene variation and function to understand the molecular genetic basis of human disease.
Dhavendra Kumar, UK (2013 – 2015 / Term 2)
Professor Dhavendra Kumar is a Consultant in Clinical Genetics at the University Hospital of Wales, Cardiff University, United Kingdom. He is the lead Clinical Geneticist for Clinical Cardiovascular Genetics. He is the Honorary Professor to the Genomic Policy Unit at the School of Health, Sport and Science, the University of Glamorgan, in South Wales, UK. He is also the Adjunct Professor to the Public Health Genetics Unit at the Chinese Capital Medical University, Beijing, China.
He has authored/edited ‘Genetic disorders of the Indian Subcontinent-Springer’, Kluwer-Springer, 2004; ‘Genomics and Clinical Medicine’- Oxford University Press, 2008; ‘Principles and Practice of Clinical Cardiovascular Genetics’-Oxford University Press, 2010, ‘Oxford Specialist Handbook on Inherited Cardiac Disease’, Oxford University Press, 2011 and ‘Genomics and Health of the Developing World’, Oxford University Press, 2012. He has several peer-reviewed publications in pediatrics and clinical genetics. In 2006, 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 Co-Editor. He also serves as a member of the HUGO Publications committee.
During the long career in medical genetics, Professor Kumar has engaged in undergraduate (MB and BSc) and postgraduate teaching (MSc, MD & PhD). He has organized a number of national and international professional conferences and educational seminars. These have been widely acknowledged and appreciated at all professional levels. He founded and leads the ‘Indo-UK Genetic Education Forum’. He has initiated and leads an international genetics & genomics teaching and training program in Indian subcontinent, the Middle East, Africa and Latin America through educational seminars and establishing professional networks of joint partnership.
He is passionate for the applications of genomics in medicine, public/population health and bio-technologies, particularly in developing countries. He is actively involved in discussion and collaboration for raising awareness and promoting genetics/ genomics for improved healthcare and socio-economic benefits in the emerging economies of the developing world.
Kartiki Desai, India (2012 – 2014 / Term 1)
Dr. Kartiki V Desai recently returned to India as an Associate Professor at the National Institute of Biomedical Genomics, Kalyani. She completed her Ph.D. in Molecular Endocrinology from the Indian Institute of Science, Bangalore (1994-1999). She was a post-doctoral fellow at the National Cancer Institute (NIH) where she analyzed and compared gene expression profiles of several rodent models of human breast and prostate cancer (1999-2005). As a Research Scientist at the Genome Institute of Singapore, she identified novel therapeutic targets in breast cancer by integrating bioinformatics tools with clinical data, followed by High-Content Screening and deep functional validation of each candidate that associated with poor disease outcome (2006-2011). Her current interest is to explore the utility of nucleic acids isolated from archival formalin-fixed paraffin embedded (FFPE) samples of rare paediatric cancers found in India for next generation sequencing and mapping of the cancer genome. She serves as a member of the Governing board of International Association of Breast Cancer Research (IABCR) and is an Associate Editor for Frontiers in Cancer Genetics.
Takashi Gojobori, Japan (2011-2013/ Term 1)
Takashi Gojobori (五條堀 孝 born October 24, 1951) is a Japanese molecular biologist, and he is a Vice-Director of the National Institute of Genetics (NIG) and Professor at Center for Information Biology and DNA Data Bank of Japan (DDBJ) in NIG, Mishima, Japan. He has also been co-appointed as the Special Research Consultant of the National Institute of Advanced Industrial Science and Technology (AIST), as a Visiting Professor of Keio University, Tokyo University, and Tokyo Institute of Technology and as a Visiting Research Director of RIKEN.
After finishing his Ph.D. (1979) at Kyushu University, Japan, he was Research Associate and Research Assistant Professor at the University of Texas at Houston for 4 years (1979–1983). He was also Visiting Assistant Professor at Washington University in St. Louis (1985, 1986) and Visiting Research Fellow at the Imperial Cancer Research Fund (ICRF) in London (1989).
Prof. Gojobori is a Foreign Honorary Member of the American Academy of Arts and Sciences (2006) and Fellow of the American Association for the Advancement of Science (AAAS) (2006). In 2006 Pope Benedict XVI appointed Prof. Gojobori as a member of the Pontifical Academy of Sciences. He has received the Gaetano Salvatore Gold Medal from Italy (2004). In 2009 he was awarded the Purple Ribbon Medal and the Medal of Honor of Japan for a series of his researches to develop the early age of "Molecular Evolutionary Studies using genome information".
He is the Founding Editor of Genome Biology and Evolution, the Executive Editor of GENE, Associate Editor of PLoS Genetics, Molecular Biology and Evolution and BMC Genomics, and Academic Editor of FEBS Letters, and he has served on the editorial boards of 6 international journals including Genome Research.
Prof. Gojobori has 389 publications in peer-reviewed international journals, as of May, 2012. He has worked extensively on the rates of synonymous and non-synonymous substitutions, positive selection, horizontal gene transfer, viral evolution, genome evolution, and comparative gene expression. In recent years, he has focused on the evolution of the brain and CNS.
Prof. Gojobori has served as the Program Director of the Council for Science and Technology Policy (CSTP) of the Government of Japan and is the Science Officer of the Ministry of Education, Science, Sports, Culture, and Technology (MEXT). He has contributed to the DDBJ/GenBank/EMBL database construction as well as the H-Invitational human gene database.
Ada Hamosh, USA (2013-2015 / Term 1)
After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Institute of Genetic Medicine (IGM)of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but branching to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice. In addition, over the past year, she has developed PhenoDB, a new web-based tool for the collection, storage and analysis of phenotypic information, developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies. Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease.
Yoshihide Hayashizaki, Japan (2012-2014 / Term 2)
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 taken a 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 an international consortium, FANTOM (Functional Annotation of Mammalian Genome), 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. From 2008 he is leading the Omics Science Center as the director to advance our understanding of biological phenomena as systems at the molecular level.
Alfredo Hidalgo Miranda, Mexico (2012 – 2014 / Term 1)
Dr. Alfredo Hidalgo-Miranda was born in Mexico City in 1973. He studied Biology at the Universidad Nacional Autónoma de México (UNAM). In 2005, he got his Ph.D. in Biomedical Sciences from the Faculty of Medicine at the UNAM, doing his experimental work at the Oncological genomics laboratory of the Oncology Hospital, National Medical Center in Mexico City. His research has been focused on the characterisation of genomic alterations in human tumours. He was a visiting scientist at the Molecular Oncology Laboratory of the Von Virchow Institute of Pathology in Berlin, Germany, where he participated in the analysis of somatic DNA copy number aberrations in uterine cervical carcinoma and central nervous system metastases of solid tumours. In 2004, he joined the National Institute of Genomic Medicine (INMEGEN) in Mexico City, where he participated in the design and initial set up of the genomic analysis core laboratories and in the Mexican Genomic Diversity project. His research group is currently focused on the genomic characterization of breast and other human tumours, through the application of high-density SNP arrays, mRNA expression arrays and microRNA arrays. More recently, in collaboration with several institutions, his group participated in the analysis of the whole genome sequence of breast tumours, leading to the identification of several genomic alterations with no previous involvement in this type of tumour. He is part of the Mexican Research System and is currently the principal investigator of the Cancer Genomics Laboratory and the project leader of the Breast Cancer Genomics project at the INMEGEN.
Matthew Hurles, UK (2012 – 2014 / Term 1)
Matthew Hurles earned his PhD from the University of Leicester in 1999, studying the population genetics of human Y chromosomal polymorphisms, and then conducted post-doctoral research focusing on the prehistory of Pacific populations and patterns of molecular evolution in duplicated sequences. In 2003, he joined the Wellcome Trust Sanger Institute in Cambridge, UK, and established a research group in medical and population genetics focusing on structural variation in the human genome. He has led a major initiative to characterize structural variation in the human genome, integrating this knowledge into disease and population genetic studies. Dr Hurles lead the Structural Variation group of the 1000 Genomes Project from its inception and drove the development of novel methods to apply the latest sequencing technologies to characterise structural variation. In 2011, Dr Hurles also co-led, with Philip Awadalla, the first study to count the proportion of new mutations in individual children that arose in the paternal and maternal germline, revealing unexpected variation in numbers of mutations between gametes. Dr. Hurles is currently leading efforts at the Wellcome Trust Sanger Institute to apply genome-wide resequencing methods to improve the diagnosis of rare diseases and understand the factors influencing rates of mutation.
Dr. Hurles has had a leadership role in several large consortia, including: the Wellcome Trust Case-Control Consortium, the 1000 genomes project, the Deciphering Developmental Disorders initiative and the UK10K project. Dr. Hurles gave The Genetics Society Balfour Lecture in 2009.
Gerardo Jimenez-Sanchez, Mexico (2012 – 2014 / Term 2)
Professor Gerardo Jimenez-Sanchez was born in Mexico City. He is a medical doctor, a certified pediatrician, and holds a PhD in Human Genetics and Molecular Biology from Johns Hopkins and a degree in business administration. He is professor of genomic medicine at the National Autonomous University of Mexico and serves as Chairman of the Working Party on Biotechnology at the Organization for Economic Cooperation and Development (OECD). He is Executive President of the Global Biotech Consulting Group and chairs the initiative on Genomics and Bioeconomy in Mexico.
Prof. Jimenez was the founder Director of the National Institute of Genomic Medicine (INMEGEN) in Mexico, director of the Mexican Genomic Diversity Project, and Chief Scientific Officer at Biofields. He serves as a Council Member in Biotechnology to the United Nations Secretary General, Member of the Scientific Council for the Grand Challenges in Genomics at the World Health Organization, and Council member of the Human Genome Organization (HUGO). He is the President of HUGO's Committee of Genomics and Bioeconomy and Board Member for the Public Population Projects in Genomics (P3G).
He is former President of the Mexican Society of Genomic Medicine and President of the I & II National Congress in Genomic Medicine in Mexico. He serves as regional Editor for Latin America and the Caribbean of the HUGO Journal. Prof. Jimenez is member of international scientific societies and has received prestigious awards for research and institutional accomplishments. He is author and co-author of research articles, chapters and books in pediatrics, genomics, and medicine.
Nicholas Katsanis, USA (2012 – 2014 / Term 1)
Dr. Katsanis obtained his first degree in Genetics from UCL in London in 1993 and his doctorate from Imperial College, University of London in 1997. He then joined the laboratory of Dr. Lupski at Baylor College of Medicine, where he initiated his studies on Bardet-Biedl syndrome. In 2002, he relocated to the Institute of Genetic Medicine, Johns Hopkins University. In 2009, he moved to Duke University to establish the Center for Human Disease Modelling, where he is the Director; this new structure aims to facilitate collaboration across disciplines and to develop physiologically relevant tools to study variation found in human patient genomes. In parallel, the Katsanis lab pursues questions centred on the signalling roles of vertebrate cilia, the translation of signalling pathway defects on the causality of ciliary disorders, and the dissection of second-site modification phenomena as a consequence of genetic load in a functional system. Dr Katsanis is a Professor in the Departments of Cell Biology and Pediatrics and holds the Brumley Distinguished Professorship. He has published over 140 research papers, reviews, and book chapters, serves on several advisory, editorial and organizational boards and has delivered some 100 lectures in 15 countries.
Edison Liu, USA (2010-2013/ Term 2)
Dr. Edison Liu is the newly appointed president and CEO of The Jackson Laboratory. Dr. Liu joins the Laboratory from the Genome Institute of Singapore. As founding executive director, Dr. Liu built the GIS from a staff of three into a major research institute of 27 laboratory groups and a staff of 270, with faculty in functional genomics, computational biology, population genetics and genome-to systems biology. Before moving to Singapore in 2001, he was the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md.
Born in Hong Kong in 1952, Edison Liu obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University's Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, first in a haematology fellowship at Moffitt Hospital and then as a postdoctoral fellow in the laboratory of Nobel laureate J. Michael Bishop, while also serving as an instructor in the School of Medicine. From 1987 to 1996 he was at the University of North Carolina at Chapel Hill, where he rose to director of the UNC Lineberger Comprehensive Cancer Centre's Specialized Program of Research Excellence in Breast Cancer, the director of the Laboratory of Molecular Epidemiology at UNC's School of Public Health, chief of medical genetics, and chair of the Correlative
Science Committee of the national cooperative clinical trials group, CALGB. Dr. Liu also held faculty positions in the UNC departments of medicine, epidemiology, biochemistry and biophysics, and in the curriculum in genetics. Dr. Edison Liu was born in Hong Kong, China, and immigrated 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 (Haematology). 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, he joined the faculty of Medicine at the University of North Carolina at Chapel Hill. There, he developed programs in leukaemia and breast cancer research centring 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.
Madan Babu Mohan, UK (2012 – 2014 / Term 1)
M. Madan Babu (b. 1979) heads the Regulatory Genomics and Systems Biology group at the MRC Laboratory of Molecular Biology, Cambridge, UK. His group investigates how regulation is achieved at multiple levels of complexity in cellular systems and how this influences evolution of organisms and their genome. Towards this objective, he primarily uses computational approaches, such as sequence analysis, structure analysis and evolutionary analysis, and develops novel integrative approaches, that use expression data, comparative genomics analysis, network analysis, genomic variation and phenotype data. More recently, his group also exploits yeast genetics to uncover the molecular origins of cell-to-cell variation in expression level of genes in genetically identical cell populations.
He obtained his undergraduate degree in 2001 from the Centre for Biotechnology, Anna University, India with fellowships from the Indian Institute of Science and the Indian Academy of Sciences. He then received a LMB-Cambridge International Fellowship and a Trinity College Research Scholarship to carry out his doctoral research at the Medical Research Council Laboratory of Molecular Biology (MRC-LMB) in Cambridge, UK. During this time, he carried out studies on the structure, evolution and dynamics of transcriptional regulatory networks by employing a combination of computational approaches. For this work, he was awarded the Max Perutz Prize for outstanding PhD research in 2004. He subsequently received an NIH International Visiting Fellowship to work at the NCBI, USA where he defined general principles of the organization of biological networks. He returned to the UK to become an independent Group Leader at the MRC Laboratory of Molecular Biology in 2006, was elected as a Schlumberger Research Fellow at Darwin College, Cambridge in 2007 and was appointed as a Programme Leader in 2010.
Madan Babu is a Director of Studies at Trinity College, Cambridge, an Executive Editor at Nucleic Acids Research and an Associate Editor at Molecular BioSystems. He has published over 90 papers, reviews and chapters (h-index: 30) and has received several awards including the Biochemical Society's Early Career Award (2009), EMBO Young Investigator Award (2010), British Genetics Society's Balfour Award (2011) and the Royal Society of Chemistry's Molecular BioSystems Award (2011).
Partha Majumder, India (2012 – 2014 / Term 1)
Partha P. Majumder is the founding Director of the National Institute of Biomedical Genomics, Kalyani, India and concurrently a Professor in the Indian Statistical Institute, Kolkata and the Indian Institute of Science Education & Research, Kolkata; and an Honorary Professor at the Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore. He obtained his Bachelor's, Master's and Doctoral degrees from the Indian Statistical Institute; did his post-doctoral research at the Center for Demographic & Population Genetics, Houston; and has served on the faculty of the Department of Biostatistics and Human Genetics of the University of Pittsburgh. He has pioneered the development of some statistical methods in the analysis of human genome diversity and genetic epidemiology, and has authored over 200 publications. He is an elected Fellow of all the three science academies of India and of TWAS (The Academy of Sciences for the Developing World, Trieste). He has served on the Board of Directors of the International Genetic Epidemiology Society (IGES), and was the founding Chair of its ELSI Committee. He is a Member of the Human Genome Organisation. He is a recipient of many awards and medals, including the TWAS Biology Prize – 2009, G.D. Birla Award for Scientific Research – 2002, Ranbaxy Research Award in Applied Medical Sciences – 2000, and the New Millennium Science Medal, Government of India, 2000.
Julie Makani, Tanzania (2012 – 2014 / Term 1)
Julie Makani is a Wellcome Trust Research Fellow and Senior lecturer in the Department of Haematology and Blood Transfusion at Muhimbili University http://www.muhas.ac.tz, the main clinical, academic and research centre in Tanzania. Tanzania aims to develop excellence in genomic medicine to address some of the fundamental issues limiting research and healthcare in Africa. Sickle cell disease (SCD) is recognised as a 'perfect model' to test the paradigm of translating genome-based knowledge into health benefits because it is a monogenic disorder with considerable phenotypic variation and causes a significant burden of disease. With support from Wellcome Trust, Muhimbili has established a framework for healthcare and genomic research.
Dr Makani trained in Medicine at Muhimbili and completed her postgraduate training in Internal Medicine in the UK. She undertook her PhD in SCD, acquiring critical clinical-epidemiological skills. She is a Member of the Royal College of Physicians (UK) and a research fellow, Oxford University www.ndm.ox.ac.uk/researcher/juliemakani. In 2009 she was awarded the Archbishop Desmond Tutu Leadership Fellowship www.alinstitute.org for promoting excellence in biomedical science in Africa. She received the 2011 Royal Society Pfizer Award in recognition of her work in using anaemia in SCD as a model of translating genetic research into health benefit.
John Mattick, Australia (2012 – 2014 / Term 1)
John Mattick is Director of the Garvan Institute of Medical Research. He trained at the University of Sydney and Monash University, and subsequently worked at Baylor College of Medicine in Houston, the CSIRO Division of Molecular Biology in Sydney, and the University of Queensland, where he was the Foundation Director of the Institute for Molecular Bioscience and the Australian Genome Research Facility. He has also spent sabbatical periods at the Universities of Cambridge, Oxford, Cologne and Strasbourg. Professor Mattick's honours include the Biotechnology Medal of the Australian Biochemical Society, Honorary Fellowship of the Royal College of Pathologists of Australasia, the Australian Government Centenary Medal, the inaugural University of Strasbourg Gutenberg Professorship, and the IUBMB Medal. He is an Associate Member of EMBO and a Fellow of the Australian Academy of Science, and was appointed an Officer in the Order of Australia in 2001.
Mark McCarthy, UK (2011-2013 / Term 2)
Mark McCarthy is Robert Turner Professor of Diabetes at the University of Oxford and Consultant Endocrinologist at the Oxford University Hospitals Trust. His research team, based at the Oxford Centre for Diabetes, Endocrinology and Metabolism, and the Wellcome Trust Centre for Human Genetics has a long-standing interest in the genetics of complex traits including type 2 diabetes, obesity and growth.
In recent years, his group has played a leading role in international efforts to apply genome wide association approaches to study type 2 diabetes, obesity and related traits. The research work of his team has, with collaborators, identified at least 30 new regions involved in susceptibility to type 2 diabetes, and a similar number impacting on other traits including risk of obesity, fasting glucose levels and birth weight. This work has provided novel biological insights into the pathogenesis of these conditions and underpins future efforts to translate genetic findings into clinical practice. He plays a leading role in several international consortia including DIAGRAM, GIANT, MAGIC, EGG, CEED3, ENGAGE, EAGLE and the Global Diabetes Consortium. He currently serves on the council of HUGO, the Human Genome Organisation.
Carmencita Padilla, Philippines (2013-2015 / Term 1)
Dr Padilla is Professor of Pediatrics at the College of Medicine, University of the Philippines Manila. She serves as Executive Director of the Philippine Genome Center; Director of the Newborn Screening Reference Center - National Institutes of Health (NIH) Philippines; and Interim Director, Institute of Health Innovation and Translational Medicine of the Philippine California Advanced Research Institutes. Dr Padilla is a pioneer in genetics in the Philippines and the Asia Pacific region. In the Philippines, she is responsible for setting up the clinical genetic services at the Philippine General Hospital in 1990 and the various genetic laboratories now housed at the Institute of Human Genetics – NIH since 1991. She is also responsible for setting up of national newborn screening services in the Philippines, currently available in 4000+ health facilities in the country. In the Asia Pacific region, Dr Padilla is part of the pioneering group that established the Asia Pacific Society for Human Genetics and she served as president in 2008-2010. Dr Padilla was the host of the Joint 7th Joint HUGO Pacific Meeting and the 8th Asia Pacific Conference in Human Genetics held in Cebu City, Philippines in 2008. Dr Padilla is a member of the American Society of Human Genetics. Among the various honors bestowed on Dr Padilla include election to the National Academy of Science and Technology.
Juergen Reichardt, Australia (2013-2015 / Term 1)
Juergen Reichardt has a long and distinguished career in gene discovery and, more recently the functional assessment of DNA variants. Examples of these include: cloning of the gene for classic galactosaemia encoding galactose-1-phosphate uridyl transferase (GALT) with Nobel-prize winner Paul Berg in 1988 at Stanford. Reporting the first galactosaemia mutations with Savio Woo in 1991 while at Baylor. Cloning the human gene for epimerase-deficiency galactosaemia (UDP-glucose 4’ epimerase; GALE) in 1995. Reporting the first association between genetic variants in the human steroid 5-reductase type II (encoded by the SRD5A2 gene) and prostate cancer in 1999. He identified and characterized significant biochemical and pharmacogenetic variation in human steroid 5-reductase type II (encoded by the SRD5A2 gene) in 2000. He also discovered common somatic mutations in prostate cancer in the human steroid 5-reductase type II (SRD5A2) gene in 2004.
He was on the faculty at USC (the University of Southern California) for 13 years. Juergen arrived in 2005 in Australia as the Plunkett Chair of Molecular Biology (Medicine) in Sydney where he continued many of his investigations as well as branching out into new areas by establishing new collaborations in Australia particularly in relationship to complex genetic traits, especially heart disease.
Juergen Reichardt is currently the Head of School, Pharmacy and Molecular Sciences at James Cook University. Furthermore, he serves as the Associate Dean Research in the Faculty of Medicine, Health and Molecular Sciences at James Cook University.
Charles Rotimi, USA (2013-2015 / Term 1)
Charles Rotimi, PhD, a genetic epidemiologist and a biochemist, is the Director of the NIH Center for Research on Genomics and Global Health (CRGGH) with the mission of advancing research into the role of culture, lifestyle, genetics and genomics in disease etiology, health disparities, and variable drug response. His team published the first genome-wide scan for hypertension and blood pressure in African Americans and for type 2 diabetes in West Africans. His lab contributes to the global understanding of human genetic variation by actively participating in the development of international genomic resources including the HapMap, the 1000 Genome and the African Genome Variation projects. He is on the Executive and Scientific Committee for the International Federation of Human Genetics Societies. He is the founding and current president of the African Society of Human Genetics (AfSHG). Recently, he successfully led the establishment of the Human Heredity and Health in Africa (H3Africa) initiative; with $38 million commitment from the NIH and Wellcome Trust, H3Africa will create and support network of labs that will conduct leading-edge research into the genetic and environmental determinants of diseases in Africans. He is on the Editorial Board of Public Health Genomics, Genome Medicine and Clinical Genetics.
Martin Vingron, Germany (2013-2015 / Term 2)
Martin Vingron (Dr. rer nat.), is a mathematician by education who has done his PhD in computational biology at EMBL in 1991. At the time and for a number of years of postdoctoral training his research has focused on the analysis of protein sequences, sequence analysis, sequence comparison, and molecular evolution. Later, as a department head at the German Cancer Research Center and from 2000 on as a Director at the Max Planck Institute for Molecular Genetics in Berlin, his research focus shifted towards the processing and mathematical analysis of functional genomics data. He has contributed to analysis methods for DNA microarrays and in recent years has been working on transcriptional regulation. Vingron received the Max Planck Research Prize in 2004, is an elected member of the German Academy of Natural Scientists Leopoldina, and also holds a secondary appointment at the CAS-MPG Partner Institute for Computational Biology in Shanghai. In 2012 he was elected a Fellow of the International Society for Computational Biology (ISCB).
Emma Whitelaw, Australia (2011-2013 / Term 1)
Emma Whitelaw is a world authority on the study of epigenetic mechanisms controlling gene expression in mammals. Her early studies in Oxford focussed on transcriptional termination and the demonstration (with Nick Proudfoot) that polymerase II release is linked to 3' end processing. The observation that transgenes are frequently silenced in transgenic mice led to her enduring and productive interest in exploring the mechanisms of epigenetic gene regulation. A most significant early finding was that enhancers act to increase the probability that a gene is transcribed, rather than the rate at which it is transcribed. Over the past decade the Whitelaw group's work has focussed on understanding their finding that epigenetic states can be inherited to the next generation. The idea that it is more than just DNA that you inherit from your parents was controversial and we spent a number of years collecting evidence in support of this finding. These findings challenge the way we think about the inheritance of phenotypes. The group have gone on to identify other genes that display these effects, including through the use of ENU mutagenesis screens in mice to identify modifiers of epigenetic inheritance. They have shown that epigenetic events play a critical role in normal development and are now deemed by many scientists around the world to be of great significance in human disease and normal biology. There is an increasing realisation that these mechanisms are critical in mediating the influence of environmental factors on gene expression. The Whitelaw lab is engaging with collaborators in the application of their mouse model system findings to the human situation. They collaborate widely with eminent groups in Australia and around the globe.
Emma's work has been deservedly well-funded and recognised internationally by many invitations to speak world-wide at major meetings. The topic is also of great and increasing public interest and Emma has worked hard to contribute insights at this level too. Emma sits on several grant panels including for the EU 7th framework. She has been awarded the Victor Chang Cardiac Research Institute's Barbara Ell Medal for the pursuit of excellence in research, and the Julian Wells Medal for an outstanding contribution to Genetics, awarded by The Genome Conference. In 2008 she received the rare accolade of being appointed an NHMRC Australia Fellow at the Queensland Institute of Medical Research.
The topic of Emma Whitelaw's work is of major interest to HUGO and her eminence in the field will be a real boost to Council's work. Her passionate interest in the science and her eagerness and ability to convey the significance of the field to a lay audience and to politicians will be a great asset to HUGO's work.
Huanming Yang, China (2013-2015 / Term 1)
Dr. Yang is the co-founder and President of BGI, of which is one of the major genomics centers in the world. He and his collaborators have made a significant contribution to the International HGP, HapMap, and 1000 Genomes Projects, as well as to the Asian genomes, human pan-genome, gut metagenomes, cancer genomes, exomes and methylome. He has also contributed to sequencing and analysis of genomes of rice, maize, pigeonpea,cucumber, cabbage, chicken, silkworm, panda, cynomolgus and Chineserhesus macaque, SARS virus, lethal E.coli, as well as many other organisms.
Dr. Yang received his Ph.D. from University of Copenhagen andreceived postdoctoral trainings in France and USA. He has received many awards and honors, including Research Leader of the Year by Scientific American in 2002,The Award in Biology by the Third World Academy of Sciences（TWAS）in 2006, an Honorary Doctorate from Aarhus University, Denmark, in 2009, and Award for Distinguished Academic Achievement by the Human Genome Organization (HUGO) in 2010. He was elected as an associate fellow of EMBO in 2006, an academician of Chinese Academy of Sciences in 2007, a fellow of TWAS in 2008, a foreign academician of Indian National Science Academy in 2009 and German National Academy of Sciences in 2012. He has served on many bioethics and other policy-making commissions and committees both in China and international organizations such as the High Commission for Human Rights of the United Nations, the World Health Organization (WHO) and UNESCO, as well as the International Research Panel of the US Presidential Commission for the Study of Bioethical Issues.