Invited Speakers

• Ian Alexander
  

  Ian Alexander

  Professor Alexander is head of the Gene Therapy Research Unit, a joint initiative of the The Children’s Hospital at Westmead and Children’s Medical Research Institute in Sydney, Australia. He has established a translational research program and developed the specialised infrastructure and skill sets required to take promising novel therapies through to clinical application. His team became the first in Australia to treat a genetic disease (SCID-X1) by gene therapy and are recognised leaders in the establishment of this exciting field in Australia. His specific expertise and interests include virus-mediated gene transfer with a focus on organs including the liver and bone marrow. He was the inaugural president of the Australasian Gene Therapy Society in 2001, was Chair of the NHMRC Cellular Therapies Advisory Committee, is a member of the gene therapy sub-committee of the International Society for Cellular Therapy, is Associate Editor for the Journal of Gene Medicine and is a member of the editorial board of Human Gene Therapy.

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• Melanie Bahlo
  

  Melanie Bahlo

  Dr Melanie Bahlo is an ARC Future Fellow and an Honorary NHMRC Senior Research Fellow. She heads the Statistical Genetics laboratory in the Bioinformatics Division at the Walter and Eliza Hall Institute, located in Melbourne in the Parkville biomedical research precinct. She was the recipient of the Moran Medal in Statistics in 2009. Dr Bahlo graduated from Monash University with a PhD in Statistics. After a postdoc in population genetics with her PhD supervisor Professor Bob Griffiths she joined Professor Terry Speed’s Bioinformatics group at the Hall Institute in 1999. She became a lab head in 2007. Her current research interests include the application of next generation sequencing data to identify disease-causing variants. She also has interests in the application of RNA-seq data to family studies, GWAS analysis and detection of fetal aneuploidies with DNA-seq.

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• Annabelle Bennett
  

  Hon. Justice Annabelle Bennett

  The Honourable Justice Annabelle Bennett AO is a Judge of the Federal Court of Australia and an additional judge of the Supreme Court of the ACT, having previously practised as a Senior Counsel specialising in intellectual property. She was appointed an Officer of the Order of Australia in 2005. Justice Bennett is also a Presidential Member of the Administrative Appeals Tribunal; Arbitrator of the Court of Arbitration for Sport; Member of Chief Executive Women; Member of the Australian Academy of Forensic Sciences; and Member of the Law Advisory Committee of the Chinese University of Hong Kong. Justice Bennett completed her BSc (Hons) and PhD in Biochemistry (the latter in the Faculty of Vet Science) at Sydney University and later obtained her law degree at the University of New South Wales. Her interest in biological sciences has led to membership of the Genetic Manipulation Advisory Committee, the Biotechnology Task Force, the Pharmacy Board of New South Wales and the Eastern Sydney Area Health Service. Her Honour has also served as Pro-Chancellor of the Australian National University. In addition she has been a member of the Gene Patenting Advisory Committee of the Australian Law Reform Commission; a Trustee of the Centennial Park and Moore Park Trust; a Director of the Sydney Children’s Hospital; past President of the Australian Academy of Forensic Sciences; past President of Chief Executive Women; as well as a member of the Reference Group for the APEC Women Leaders’ Network Meeting 2007 and the Head of Delegation to the APEC Women Leaders’ Network Meeting 2008 in Peru.

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• Belinda Bennett
  

  Belinda Bennett

  Belinda Bennett is Professor of Health and Medical Law at the University of Sydney. Her research has focused on the development of regulatory responses to new technologies in health care and the interface between social change, scientific developments and legal regulation. From 2005-09 Belinda was Director of Sydney Law School’s Centre for Health Governance, Law and Ethics. Within the Law School she has also been Pro-Dean (Teaching Programs), Associate Dean (International) and Associate Dean (Postgraduate Coursework). Her publications include Health Law’s Kaleidoscope: Health Law Rights in a Global Age (Ashgate Publishing 2008); Belinda Bennett, Terry Carney and Isabel Karpin (eds) Brave New World of Health (Federation Press 2008), and Belinda Bennett and George Tomossy (eds) Globalization and Health: Challenges for Health Law and Bioethics (Springer 2006).

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• Andrew Biankin
  

  Andrew Biankin

  Andrew is a Surgeon Scientist who specialises in Pancreatic Diseases, particularly focusing on Pancreatic Cancer and its precursor lesions. His clinical practice is part of a specialist unit treating pancreatic disease. His research is focused on translating scientific discoveries into patient care through improved application of current therapies, early detection and novel therapeutics. He is the clinical lead of the Australian Pancreatic Cancer Genome Initiative with Prof. Sean Grimmond of the QCMG (scientific lead), which aims to sequence the genome, transcriptome and epigenome of approximately 400 pancreatic cancers as part of the International Cancer Genome Consortium.

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• David Bowtell
  

  David Bowtell

  After 10 years as Director of Research at Peter MacCallum Cancer Centre, Melbourne, Professor Bowtell returned to full time research in early 2010. He is a Head of the Cancer Genomics and Genetics Program and a Group Leader at Peter Mac.
  He trained as a molecular biologist and has an extensive background in signal transduction, genetics, genomic technologies, and cell biology. He is Principal Investigator for the Australian Ovarian Cancer Study, a national molecular epidemiological study of ovarian cancer. His laboratory has a major focus on understanding the molecular basis of platinum resistance in ovarian cancer, the development of individualized cancer medicine using novel molecularly targeted therapeutics, and gene-based diagnostics. He is a member of the International Cancer Genomics Consortium. He has been a CJ Martin Research Fellow, Wellcome Trust Senior Medical Research Fellow, and Howard Hughes International Research Scholar. He has recently been appointed NHMRC Principal Research Fellow.

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• Anthony Brookes
  

  Anthony Brookes

  Professor Anthony Brookes is an expert in genomics and bioinformatics, having contributed to disease and population genetics, DNA variation analysis, and data management/ exploitation systems for biomedical information. He has published over 150 peer reviewed articles and reviews. He has served two 3-year terms on the HUGO Council, co- founded the Human Genome Variation Society, leads an international meeting series on genome variation, jointly designed the standard PaGE-OM data model for gene-disease relationships, and filed 6 patents on cloning, genotyping, and DNA analysis. In his current position as ‘Professor of Bioinformatics and Genomics’ at the world-renowned Genetics department (University of Leicester, UK) he continues this work, with a focus on DNA diagnostics methods and ‘knowledge engineering’ to bridge the divide between research and healthcare. This is reflected, not least, by running the world's largest 'GWAS Central' database (www.gwascentral.org), and leadership roles in the EC-FP7 projects GEN2PHEN (www.gen2phen.org), READNA (www.cng.fr/READNA), and BioSHaRE (www.p3g.org/ bioshare).

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• Matt Brown
  

  Matt Brown

  Matt Brown is a clinician-scientist who trained initially in medicine and rheumatology in Sydney, Australia before moving in 1994 to Oxford, England to pursue research in genetics of bone and joint diseases, particularly ankylosing spondylitis. He was appointed Professor of Musculoskeletal Sciences at University of Oxford in 2004 and was Deputy Director of the Botnar Research Centre from 2003-5. In 2005 Matt returned to Australia, taking a chair of Immunogenetics at University of Queensland Diamantina Institute in Brisbane. There he continues to work in genetics of common diseases, as well as running a specialist service for spondyloarthritis patients at Princess Alexandra Hospital. Matt has recently been appointed as the Director of the UQ Diamantina Institute.

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• Aravinda Chakravarti
  

  Aravinda Chakravarti

  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.

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• Yuan-Tsong Chen
  

  Yuan-Tsong Chen

  Professor Yuan-Tsong (Y-T) Chen received his MD degree from National Taiwan University (Taipei) and PhD from Columbia University (USA). He is currently a Distinguished Research Fellow of the Institute of Biomedical Sciences, Academia Sinica, Taiwan, and Professor of Pediatrics at Duke University Medical Center (USA). Professor Chen is a physician/scientist, recognized for his work on human genetic disorders. His translational research leads to the development of now standard therapies for two devastating inherited metabolic diseases: a simple and effective cornstarch therapy for severe hypoglycemia in glycogen storage diseases and an enzyme replacement therapy, the first ever treatment, for a debilitating, progressive and often fatal myopathy called Pompe disease. Professor Chen has also identified the genetic basis of and developed DNA-based diagnosis for several major heritable diseases, and more recently, uncovered genes/SNPs associated with drug-induced Stevens-Johnson syndrome and warfarin sensitivity. Professor Chen is an elected member of Academia Sinica and of the Academy Sciences for the Developing World.

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• Georgia Chenevix-Trench
  

  Georgia Chenevix-Trench

  Professor Georgia Chenevix-Trench is the head of the Cancer Genetics Laboratory at the Queensland Institute of Medical Research. Her laboratory works mainly on identifying new predisposition genes for breast and ovarian cancer. She is the author of more than 220 peer reviewed papers, and has been instrumental in the collection of public resources such as kConFab, the consortium for research into familial breast cancer, and the Australian Ovarian Cancer Study (AOCS). The long term aim of much of her research is to identify women at elevated risk of breast and ovarian cancer who could benefit from earlier and more intense screening. She is also interested in inherited resistance to chemotherapy and is carrying out a genome-wide association study to look for markers of response to carboplatin treatment in ovarian cancer in the AOCS, followed by validation in the Ovarian Cancer Association Consortium.

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• Joel Cherry
  

  Joel Cherry

  Joel Cherry has over 19 years experience in industrial biotechnology, with a long history of bringing biotech products to market. He served as the Senior Director of Bioenergy Biotechnology at Novozymes and as a member of the R&D executive management team, specializing in protein engineering and directed evolution technologies. As Principal Investigator and Director of the BioEnergy Project, a U.S. Department of Energy-funded $30 million effort, he led a cross-functional team of more than 100 scientists around the globe to reduce the cost of cellulases for the utilization of lignocellulosic biomass. This work was awarded an R&D 100 Award, Scientific American Top 50 Award, and a Frost and Sullivan Emerging Technology Award. In 2008, he joined Amyris, Inc., a leading U.S.-based synthetic biology company as Senior Vice President, Research Program Management & Operations, and was promoted to President of Research and Development in 2011. At Amyris, he oversees the development of microorganisms that efficiently convert plant-derived feedstocks to hydrocarbons for use in the fuels and chemicals markets. Dr. Cherry is an author on 30 research manuscripts and an inventor on more than 25 issued patents in the fields of directed evolution and protein engineering.

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• Vivian Cheung
  

  Vivian Cheung

  Vivian G. Cheung is an investigator of the Howard Hughes Medical Institute and a professor of Genetics and Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. Dr. Cheung received her B.S. from the University of California, Los Angeles, and her M.D. from Tufts University School of Medicine. Dr. Cheung is a pediatric neurologist; her research focuses on human genetics and genomics. In particular, her lab combines computational and experimental methods to study normal variation in human traits and genetics of complex diseases. She and her colleagues demonstrated that like other quantitative traits, expression levels of genes are variable and genetically regulated. This led to the field of Genetics of Gene Expression which has greatly enhanced the understanding of gene regulation in humans and other organisms. More recently, it has led them to a surprising finding that questions the fundamental step of how DNA is copied into RNA and proteins. In addition, her group studies genetics of human meiotic recombination and responses of human cells to cellular stresses and perturbations. For her contributions to human genetics, Dr. Cheung received the Curt Stern Award from the American Society of Human Genetics in 2010. Besides her positions at the HHMI and the University of Pennsylvania, she also serves as a Councilor of the American Society for Clinical Investigation, and is on the Board of Directors of the American Society of Human Genetics.

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• Susan Clark
  

  Susan Clark

  Professor Susan Clark has a highly acclaimed international reputation for her work in mammalian epigenetics. Susan heads the epigenetics research group at the Garvan Institute of Medical Research in Sydney, Australia. She graduated in 1982 with a phD in Biochemistry at the University of Adelaide and then spent ten years in the Biotechnology Industry before returning to basic research in gene regulation in 1992. Her studies over the last eighteen years have initiated profound questions about the importance of epigenetics in early development and in disease, especially in cancer. She has made extensive ground-breaking discoveries relating to DNA methylation patterns in normal and cancer genomes, that have led to new tests for early cancer detection. The techniques she pioneered in the early 1990s, including bisulphite sequencing, have revolutionised and now underpin a new era in epigenetics research. She has a number of awards including the RPAH Research Medal in 2002, Julian Wells Medal in 2003, Ruby Payne-Scott Award for contribution of women in science in Australia; “Biochemisch Analytik Preis” for outstanding contribution for Methylation analysis in 2004. in 2006 was elected a Fellow of the World Technology Network for Biotechnology and in 2009 was awarded one of Australia’s “Top Ten” National Health and Medical Research (NH&MRC) Project Scientists. .

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• Ellen Wright Clayton
  

  Ellen Wright Clayton

  Ellen Wright Clayton, JD, MD, is Craig-Weaver Professor of Pediatrics, Professor of Law, Center for Biomedical Ethics and Society, at Vanderbilt University in Nashville, TN. A member of the Institute of Medicine and Fellow of the American Association for the Advancement of Science, she has been working on the ethical conduct of genetics research and its ethical translation into the clinic for more than 30 years. She has served as a member of the National Advisory Council for Human Genome Research in the US, Co-Chair of the Consent and Community Consultation Working Group of the eMERGE Consortium which conducts research using information from the electronic medical research and genome wide association studies, Co-Chair of the Ethical, Legal, and Social Implications of the International Hap Map Project, advisor on genetics for the Council of International Organizations of Medical Sciences, and is a member of the HUGO Workgroup on Whole Genome Sequencing.

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• Enrico Coiera
  

  Enrico Coiera

  Professor Coiera is the Foundation Chair in Medical Informatics within the Faculty of Medicine at the University of NSW. He is the Director of the Centre for Health Informatics, a part of the newly formed Australian Institute for Health Innovation at UNSW. Professor Coiera’s research is concerned with advancing the safety and quality of health care through the use of information technology. He has recently broadened his interest to supporting consumers in making decisions about their health care, as well as focusing on the broader challenges of health system redesign.

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• David Cox
  

  David Cox

  Dr. Cox serves as Chief Scientific Officer for the Rinat/ Applied Quantitative Genotherapeutics Unit of Pfizer’s Worldwide Research & Development. This group integrates human biology, next- generation DNA sequencing and quantitative mechanistic mathematical modeling to define the biological basis of complex disease and to enable patient stratification in clinical trial design. Dr. Cox is a co-founder of Perlegen Sciences Inc., and was Chief Scientific Officer of that company from 2000 until 2008. From 1993 to 2000 Dr. Cox was Professor of Genetics and Pediatrics at the Stanford University School of Medicine as well as the co-director of the Stanford Genome Center. From 1980 to 1993 Dr. Cox was a faculty member at the University of California, San Francisco. 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. Dr. Cox is certified by the American Board of Pediatrics and the American Board of Medical Genetics. He has been 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. He has authored over 100 peer-reviewed scientific publications. Dr. Cox has been a member of numerous commissions and boards, including the National Bioethics Advisory Commission (NBAC) and the Health Sciences Policy Board of the Institute of Medicine. He presently serves as a member of the Council of the Human Genome Organization (HUGO). Dr. Cox’s honors include election to the Institute of Medicine of the National Academy of Sciences.

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• Hal Dietz
  

  Hal Dietz

  Dr. Dietz is Victor A. McKusick Professor of Pediatrics, Medicine, and Molecular Biology & Genetics in the Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. He is also an Investigator in the Howard Hughes Medical Institute. His undergraduate training in biomedical engineering was performed at Duke University and his MD degree was received from the Health Sciences University of Syracuse. Clinical and research training in pediatrics, pediatric cardiology, and genetics occurred at Johns Hopkins University School of Medicine. Dr. Dietz heads a multidisciplinary clinic for the diagnosis and management of individuals with heritable forms of cardiovascular disease, with a special emphasis on Marfan syndrome and related connective tissue disorders. He is Director of the William S. Smilow Center for Marfan Research, a group of dedicated molecular biologists focused on improvement of the lives of individuals with Marfan syndrome and related disorders through the development of novel diagnostic and treatment strategies. Dr. Dietz has received multiple prestigious awards including the Curt Stern Award from the American Society of Human Genetics. He was inducted to the National Academy of Sciences Institute of Medicine and the National Academy of Sciences, and elected to the American Society for Clinical Investigation and the American Association for the Advancement of Science.

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• Evan Eichler
  

  Evan Eichler

  Evan Eichler, Ph.D., is a Professor and Howard Hughes Medical Institute Investigator in the Department of Genome Sciences, University of Washington School of Medicine. He graduated with a B.Sc. Honours degree in Biology from the University of Saskatchewan, Canada, in 1990. He received his Ph.D. in 1995 from the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston. After a Hollaender post-doctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western Reserve University in 1997 and later the Department of Genome Sciences in 2004. He was a March of Dimes Basil O’Connor Scholar (1998-2001), was appointed as an HHMI Investigator (2005), and awarded an AAAS Fellowship (2006) and the American Society of Human Genetics Curt Stern Award (2008). He is an editor of Genome Research and has served on various scientific advisory boards for both NIH and NSF. His research group provided the first genome-wide view of segmental duplications within human and other primate genomes and he is a leader in an effort to identify and sequence normal and disease-causing structural variation in the human genome. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease.

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• David Evans
  

  David Evans

  David Evans is a Reader in Biostatistical Genetics at the University of Bristol. His research primarily involves the genetic mapping of complex traits and diseases via epidemiological methods as well as the development and characterization of statistical methodology to better accomplish this task. His work encompasses a wide range of phenotypes and diseases including (but not limited to), growth and developmental phenotypes, asthma and atopy, Ankylosing Spondylitis, and bone related phenotypes. He is the senior genetic epidemiologist with The Avon Longitudinal Study of Parents and Children (ALSPAC), a population based birth cohort of ten thousand mothers and their children.

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• Bruno Flamion
  

  Bruno Flamion

  Bruno Flamion is an MD (internal medicine, nephrology) and PhD (physiology) from the University of Brussels (ULB), Belgium. He was a Research Fellow at the National Institutes of Health in Bethesda, MD, USA, 1988-1992 and with the Belgian National Fund for Scientific Research, 1992-1996. He is now Full Professor and Head of the Laboratory of Physiology and Pharmacology at the University of Namur, Belgium and medical expert for the Belgian Federal Agency for Medicines and Health Products (FAMHP) and the European Medicines Agency (EMA) in London where he is the immediate past chair of the Scientific Advice Working Party (2005-2010) and vice-chair of the Pharmacogenomics Working Party. In 2010 he became chair of the Belgian Committte for the Reimbursement of Medicines.

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• Richard Gibbs
  

  Richard Gibbs

  Dr. Gibbs was a leader in the sequencing of the human genome project and founded the Baylor College of Medicine Human Genome Sequencing Center in 1996. The group has since sequenced multiple genomes from model organisms, pioneered whole genome sequencing of diploid human genomes and was the first to describe hybrid selection techniques for exome capture. Currently the focus is on the discovery of Mendelian disease loci, cancer genomics and the general architecture of human genetic disease.

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• Geoffrey Ginsburg
  

  Geoffrey Ginsburg

  Dr Ginsburg, the founding director of the Center for Genomic Medicine and assumed his current position in the Duke Institute for Genome Sciences and Policy in 2004 and was also appointed as a co-director of the Duke Translational Medicine Institute in 2006. He is also the founding executive director of the Center for Personalized Medicine established in 2010. While at Duke, Dr Ginsburg has pioneered translational genomics, initiating the first genomic-guided clinical trials as well as developing novel practice models and implementation research for the integration of genomic tools in heath care systems. The centers focus on oncology, infectious diseases, cardiovascular disease and metabolic disorders. He has received a number of awards for his research accomplishments, including the Innovator in Medicine Award from Millennium in 2004 and the Basic Research Achievement Award in Cardiovascular Medicine from Duke in 2005. He is a founding member and on the Board of Directors of the Personalized Medicine Coalition, a senior consulting editor for The Journal of the American College of Cardiology, The HUGO Journal, and an editorial advisor for Science Translational Medicine. In addition he is the editor of Genomic and Personalized Medicine (Elsevier) whose first edition was published in 2009. He received his MD and PhD in biophysics from Boston University and completed an internal medicine residency at Beth Israel Hospital in Boston, MA. Subsequently, he pursued postdoctoral training in clinical cardiovascular medicine at Beth Israel Hospital and in molecular biology at Children’s Hospital

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• Seth Grant
  

  Seth Grant

  Seth Grant graduated with degrees in physiology, medicine and surgery from Sydney University and continued postdoctoral training with Douglas Hanahan at Cold Spring Harbor Laboratory and with Nobel Laureate Eric Kandel at Columbia University. He was a Principal scientist at the Wellcome Trust Sanger Institute in Cambridge UK and is Professor of Molecular Neuroscience at Edinburgh and Cambridge Universities and Fellow of the Royal Society of Edinburgh. He is best known for his work using mouse genetics and synapse proteomics to study synaptic function, plasticity, behavior and disease. His laboratory has identified multiprotein complexes in the postsynaptic proteome that play a central role in behavior in mice and humans. He created the Genes to Cognition Programme (G2C) supported by the Wellcome Trust which integrates genetic studies in mice and humans with proteomic, synaptic physiological, behavioural, computational and evolutionary approaches aimed at understanding the fundamental mechanisms of behavior.

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• Sean Grimmond
  

  Sean Grimmond

  Professor Sean Grimmond is Director of the Queensland Centre for Medical Genomics, located at the Institute for Molecular Bioscience, The University of Queensland. His research over the last decade has focused on defining the molecular networks controlling biological processes and pathological states through genome-wide surveying of sequence content, transcriptome complexity and epigenomic signatures. His scientific achievements include the pioneering of array-based and sequence-based technologies, the functional annotation of mammalian transcriptomes and the study of transcriptional programs in cancer and urogenital development. In 2009, he was awarded the NH&MRC’s International Cancer Genome Consortium project; a 5 year collaborative program between UQ, The Garvan Institute and Peter MaCallum Cancer Centre to determine the molecular basis of pancreatic and ovarian cancer through the complete genome, transcriptome and methylome sequencing of 500 cancer patients.

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• Jim Haseloff
  

  Jim Haseloff

  Jim Haseloff is a plant biologist working at the Department of Plant Sciences, University of Cambridge. His scientific interests are focused on the engineering of plant morphogenesis, using microscopy, molecular genetic, computational and synthetic biology techniques. (see www.haseloff-lab.org) Prior to joining the Department of Plant Sciences, Jim served as group leader at MRC Laboratory of Molecular Biology in Cambridge and his group developed advanced imaging techniques and modified fluorescent proteins for efficient use in plants. Before this, Jim was a research fellow at Harvard Medical School, working on trans-splicing ribozymes. He has also worked at the CSIRO Division of Plant Industry, Canberra, and developed methods for the design of the first synthetic RNA enzymes with novel substrate specificities. As well as running a research lab, Jim teaches Synthetic Biology at the University of Cambridge, and promotes its wider potential as a tool for engineering biological systems and underpinning sustainable technologies. (see www.synbio.org.uk)

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• Yoshihide Hayashizaki
  

  Yoshihide Hayashizaki

  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.

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• Maui Hudson
  

  Maui Hudson

  Maui Hudson is a researcher with qualifications in Physiotherapy (BHSc), Ethics (PGD) and Māori Health (MHSc). He is currently the Deputy Director of the Te Kotahi Research Institute at the University of Waikato. He works with iwi to develop research proposals and provides cultural and ethical advice to researchers. He was a member of the Health Research Committee Ethics Committee and co-authored Te Ara Tika: Guidelines on Māori Research Ethics - A framework for researchers and ethics committee members. Maui has research interests in the area of ethics, traditional medicine and the interface between matauranga Maori and science. He is a key investigator on Te Hau Mihi Ata: Matauranga Maori, Science and Biotechnology which is developing tools to promote dialogue for culturally innovative research.

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• Robyn Jamieson
  

  Robyn Jamieson

  Associate Professor Robyn Jamieson heads the Eye and Developmental Genetics Research Group at The Children’s Hospital at Westmead and the Children’s Medical Research Institute, University of Sydney. She is also a Clinical Geneticist at The Children’s Hospital at Westmead, Sydney. As an NHMRC scholar, she undertook PhD studies in developmental biology and postdoctoral studies in genomics and molecular genetics. Her work has been integral in identification of a number of novel disease genes in eye and developmental disease.

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• Gerardo Jimenez-Sanchez
  

  Gerardo Jimenez-Sanchez

  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.

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• Rick Johnson
  

  Rick Johnson

  Rick Johnson focuses on the policy, legal, ethical, investment, and governance issues related to synthetic biology. He is a member of the Board on Life Sciences at the National Academy of Sciences, serves as a core member of the National Academies’ Synthetic Biology initiative, and recently Co-chaired the comprehensive Board review of the National Academies’ science, technology and economic policy programs. He serves as a Director of the BioBricks Foundation, and Chairs the OECD/BIAC Biotechnology Committee. Rick also is the Chairman of the Brown Advisory Council on Biology and Medicine, a member of the MIT Corporation Visiting Committee, and several other research university boards. He participates in a number of synthetic biology policy and legal task forces, the HUGO Genomics and Society Committee, and the State Department’s international S&T joint consultative meetings. Rick also is active at the intersection of emerging technologies, entrepreneurship and economic development in transition economies and base-of-pyramid countries. He is a Fellow of the Center for Science, Technology and Society, participates in various World Bank and other international initiatives related to social entrepreneurship and impact capital, and has helped to create a number of public benefit infrastructure projects and public-private partnerships. In addition to receiving his Juris Doctor degree from the Yale Law School where he was Editor of the Yale Law Journal, he received his M.S. from the Massachusetts Institute of Technology where he was a National Science Foundation National Fellow and his undergraduate degree with Highest Honors from Brown University. Rick formerly served as General Counsel for International Trade at the U.S. Department of Commerce, where he was responsible for U.S. trade and technology issues.

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• Nicolas Katsanis
  

  Nicolas Katsanis

  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 Modeling, 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 centered on the signaling roles of vertebrate cilia, the translation of signaling 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.

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• Manfred Kayser
  

  Manfred Kayser

  Manfred Kayser obtained his Diploma in Biology from the University of Leipzig, his Ph.D. in Biology / Genetics from the Humboldt University, Berlin, and his Habilitation in Genetics from the University of Leipzig. He performed postdoctoral research at Pennsylvania State University and was staff scientist, later Heisenberg Fellow, at the Max Planck Institute for Evolutionary Anthropology, Leipzig. Currently he is professor and founding chair of Forensic Molecular Biology at the Erasmus University Medical Center Rotterdam. He is a leading expert in anthropological and forensic genetics. He was instrumental in introducing Y-chromosome analysis to evolutionary and forensic genetics, is known for his work on the genetic basis of human appearance, and is recognized for his genetic research on human population history, such as in the Pacific region. He has authored >110 articles in peer- reviewed scientific journals and serves as co-editor-in-chief, academic editor, associate editor, and editorial board member for several scientific journals.

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• Larry Kedes
  

  Larry Kedes

  Larry Kedes is molecular biologist and geneticist. now an emeritus professor at the University of Southern Caifornia. Since 2006 he has been the Scientific Director and Senior Advisor to the X PRIZE Foundation and has overseen the technical and scientific aspects of the $10 million Archon Genomic X PRIZE, a competition to test the ability of contestants to sequence 100 human genomes within 30 days at a high degree of accuracy and completeness and at low cost.

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• Hiroaki Kitano
  

  Hiroaki Kitano

  Hiroaki Kitano is a President & COO at Sony Computer Science Laboratories, Inc. and a President of The Systems Biology Institute. He is also a Principle Investigator of Open Biology Unit, Okinawa Institute of Science and Technology. He received a B.A. in physics from the International Christian University, Tokyo, and a Ph.D. in computer science from Kyoto University. Since 1988, he has been a visiting researcher at the Center for Machine Translation at Carnegie Mellon University. His research career includes a Project Director at Kitano Symbiotic Systems Project, ERATO, Japan Science and Technology Corporation followed by a Project Director at Kitano Symbiotic Systems Project, ERATO- SORST, Japan Science and Technology Agency. Kitano received The Computers and Thought Award from the International Joint Conferences on Artificial Intelligence in 1993, Prix Ars Electronica 2000, and Nature’s 2009 Japan Mid-career Award for Creative Mentoring in Science. His research interests include AI, Robotics, and Systems Biology.

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• Larry Kwak
  

  Larry Kwak

  Dr. Kwak graduated from the 6-year combined B.S.- M.D. Honors Program in Medical Education from Northwestern University Medical School in 1982 and earned his Ph.D. in tumor cell biology there in 1984. He then completed a residency in internal medicine and a fellowship in medical oncology at Stanford University Medical Center. Dr. Kwak served as Head of the Vaccine Biology Section, Experimental Transplantation and Immunology Branch, at the National Cancer Institute for 12 years. His NCI laboratory is credited with the bench-to-clinic translational development of a therapeutic personalized cancer vaccine for B-cell malignancies. Since his recruitment to M.D. Anderson Cancer Center in 2004, he has received extensive research support and currently serves as Principal Investigator of a multimillion dollar Specialized Center of Research (SCOR) program project grant awarded by the Leukemia and Lymphoma Society. Under his leadership, his department has also been awarded individual SPORE grants in Lymphoma and Multiple Myeloma from the NCI . Dr. Kwak has authored more than 130 articles, which have been published in journals such as Science, Lancet, New England Journal of Medicine, and Nature Medicine. In May 2010 Dr. Kwak was named to the TIME100, one of the world’s 100 most influential people by TIME magazine. A committed physician, scientist, and mentor, Dr. Kwak lives in Houston with his wife and their four children.

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• Charles Lee
  

  Charles Lee

  Dr. Charles Lee is the Director of the Molecular Genetic Research Unit, an Associate Professor at Harvard Medical School, and a Board-certified Clinical Cytogeneticist at Brigham and Women’s Hospital. Dr. Lee is also cross-appointed as an Associate Member of the Broad Institute and holds an honorary Professorship at the Chinese University of Hong Kong. Dr. Lee received his doctoral degree from the University of Alberta, Canada in 1996 and was subsequently an NSERC research fellow at the University of Cambridge, UK from 1996-1998. He then completed his Clinical Cytogenetic fellowship at Harvard Medical School, USA from 1998-2001, and became board certified by the American Board of Medical Genetics in 2002. Dr. Lee is the principal investigator on grants from the National Cancer Institute, the National Human Genome Research Institute, and the National Institute of General Medicine. He has authored / coauthored over 125 publications and has previously chaired the Program Committee for the American Society of Human Genetics as well as served as an Associate Editor of the American Journal of Human Genetics. He currently co-chairs the structural variation analysis group for the International 1000 Genomes Project, is a regular grant reviewer for the Genes, Health and Development Study Section at the National Institutes of Health, and serves on advisory committees for the International Standard Cytogenomic Array (ISCA) Consortium, the Cancer Cytogenomics Microarray Consortium (CCMC), the NIH-sponsored prenatal microarray study and the US Food and Drug Administration (FDA). The research in Dr. Lee’s laboratory has been centered on the use of state-of-the-art molecular cytogenetic technologies to study the structure of vertebrate genomes to understand human diseases with a focus on the role of structural genomic variation in human phenotypes and disease susceptibility.

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• Edison Liu
  

  Edison Liu

  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 hematology 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 Center'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. His many awards include the 1996 Brinker International Award for basic science research in Breast Cancer; the 2000 Rosenthal Award from the American Association for Cancer Research; the President’s Public Service Medal for helping Singapore resolve the SARS crisis; and a Doctor of Medicine Sciences honoris causa, Queen’s University, Belfast, 2007. In 2008 he was elected as a Foreign Associate Member of the European Molecular Biology Organization, and is serving his second term as the elected president of the Human Genome Organization (HUGO).

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• James Lupski
  

  James Lupski

  Jim Lupski is Cullen Professor and Vice Chair of Molecular and Human Genetics. Dr. Lupski received his initial scientific training at the Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University completing the M.D./Ph.D. program in 1985. In 1986 he moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992) and then established his own laboratory at Baylor College of Medicine where he remains, and as of 1995, as the Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics. Through studies of Charcot-Marie-Tooth peripheral neuropathy, a common autosomal dominant trait due to a submicroscopic 1.5 Mb duplication, and Smith-Magenis syndrome, a contiguous gene deletion syndrome, his laboratory has delineated the concept of 'genomic disorders' and established the critical role of copy number variation (CNV) and gene dosage in conveying human disease phenotypes. An increasing number of human diseases are recognized to result from recurrent DNA rearrangements (recent examples include obesity and both autism and schizophrenia) involving unstable genomic regions and have thus been classified as genomic disorders. Dr. Lupski’s laboratory has also used chromosome engineering to develop mouse models for genomic disorders. Recently, the laboratory's CMT studies in collaborations with Richard Gibbs and the Baylor Human Genome Sequencing Center resulted in the first personal genome sequence to identify a "disease gene" by whole genome sequencing (WGS) and demonstrated the utility of WGS for optimizing patient management. These latter investigations further elucidated the potential role of rare variants in complex traits such as carpal tunnel syndrome and fibromyalgia. For his work in human genomics and the elucidation of genomic disorders Dr. Lupski was awarded a Doctor of Science degree honoris causa in 2011 from the Watson School of Biological Science at the Cold Spring Harbor Laboratory. He has coauthored over 515 scientific publications, is a co-inventor on more than 20 patents and has delivered over 418 invited lectures in 33 countries.

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• Finlay Macrae
  

  Finlay Macrae

  Professor Finlay Macrae MBBS (Hons1 Monash), MD (Melb) FRACP, FRCP, AGAF is Head of Colorectal Medicine and Genetics and lead clinician in the Familial Bowel Cancer Clinic at The Royal Melbourne Hospital, Honorary Secretary of the International Society for Gastrointestinal Hereditary Tumours, and Deputy Director of the Genomic Disorders Research Centre at University of Melbourne, the home of the International Coordinating Centre of the Human Variome Project. He has Chairs in Medicine at University of Melbourne and Monash Univeristy. He has developed the InSiGHT Locus Specific Database to be a leading pilot for the functions of the Human Variome Project and consequently has attracted widespread interest across the human genome.

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• John Mattick
  

  John Mattick

  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.

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• Mark McCarthy
  

  Mark McCarthy

  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 birthweight. 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.

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• John McPherson
  

  John McPherson

  Dr. McPherson is Director, Genome Technologies at the Ontario Institute for Cancer Research, and Professor, Department of Medical Biophysics at the University of Toronto. As part of the International Cancer Genome Consortium, he is the Program Director for the OICR Pancreatic Cancer Genome Project, which is generating a complete catalogue of genomic changes in 375 pancreatic ductal adenocarcinoma tumours. Prior to joining the OICR, Dr. McPherson’s career spanned three Genome Centers: the National Human Genome Research Center Chromosome 5 Genome Center (1993-1996) where he constructed a physical map of human chromosome 5; the Washington University Genome Sequencing Center (Co-Director, 1996-2003) where he was the lead author on the human genome physical map manuscript; and the Human Genome Sequencing Center at the Baylor College of Medicine (2003-2007) where he established a high-throughput resequencing pipeline with a peak capacity of one million sequences per month of PCR amplified gene targets.

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• Gos Micklem
  

  Gos Micklem

  Gos Micklem carried out PhD and postdoctoral research in budding yeast and Drosophila molecular genetics before switching to computational work at the Wellcome Trust Sanger Institute. His work on human genomic sequence annotation was the basis for the ENSEMBL annotation pipeline. After three years he joined a biotech start-up company to head bioinformatics and as a member of the company management team. Four years later he joined the Genetics Department of Cambridge University where his group develops the data integration platform, InterMine. In 2004 he was made Director of the Cambridge Computational Biology Institute (CCBI). He is a co-director of the Wellcome Trust funded 4-year PhD programme in Mathematical Genomics and Medicine. Since 2005 he has co-organised the Cambridge team for the International Genetically Engineered Machines (iGEM) undergraduate summer competition in synthetic biology, with the team winning the grand prize in 2009 against 110 teams from across the world.

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• Charles Mullighan
  

  Charles Mullighan

  Charles Mullighan is Associate Member (Professor) in the Department of Pathology, the Director of the Tissue Resources Laboratory and the Co-Leader of the Hematologic Malignancies Program of St Jude Children’s Research Hospital in Memphis, Tennessee. He received his medical degree from the University of Adelaide in 1993 before undertaking doctoral studies in immunology and immunogenetics at the University of Oxford. He returned to Adelaide to train in internal medicine, haematology and haematopathology at the Royal Adelaide Hospital and Institute of Medical and Veterinary Science in 1998. He undertook postdoctoral training in leukaemia biology at St Jude from 2004, and joined the faculty of St Jude in 2008. His work examines the genetic basis of leukaemia, and uses high resolution genomic profiling, including next generation sequencing, to examine the genetic basis of leukaemogenesis and treatment failure in high risk acute leukaemia. This work has characterised several novel subtypes of acute leukaemia, and has identified new therapeutic targets that have entered clinical trials. He has received merit awards and the Joanne Levy Memorial Awards from the American Society of Hematology.

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• Niranjan Nagarajan
  

  Niranjan Nagarajan

  Dr. Niranjan Nagarajan is a Senior Research Scientist in the Genome Institute of Singapore and Adjunct Assistant Professor in the Department of Computer Science at the National University of Singapore. His research focuses on algorithmic and statistical issues in the study of infectious and genetic diseases. Dr. Nagarajan received a B.A. in Computer Science and Mathematics from Ohio Wesleyan University in 2002, a Masters in Computer Science from Cornell University in 2004 and a Ph.D. in Computer Science from Cornell University in 2006. He did his postdoctoral work in the Center for Bioinformatics and Computational Biology at the University of Maryland working on problems in genome assembly and metagenomics.

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• Huck Hui Ng
  

  Huck Hui Ng

  Professor Huck-Hui NG is the Acting Executive Director of the Genome Institute of Singapore (GIS). Huck-Hui NG graduated from the National University of Singapore and obtained his PhD from the University of Edinburgh. He spent the next few years working at the Harvard Medical School as a Damon Runyon-Walter Winchell research fellow. His lab is studying gene regulation in stem cells. Specifically, his group is using genome wide approaches to dissect the transcriptional regulatory networks in embryonic stem cells and to identify key nodes in this network. More recently, his lab has begun to investigate the reprogramming code behind the induction of pluripotency in somatic cells. His research work has earned him several prestigious national accolades including the Singapore Youth Award 2005, the National Science Award 2007 and the President Science Award 2011.

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• Elizabeth Phillips
  

  Elizabeth Phillips

  Professor Phillips is a clinical researcher at the Institute for Immunology & Infectious Diseases, Professor of Pharmacology at Murdoch University, Clinical Professor in the schools of Pathology & Laboratory Medicine at UWA and a consultant in the departments of Clinical Immunology, Infectious Diseases and Clinical Pharmacology at Royal Perth Hospital and Sir Charles Gairdner Hospital where she runs drug hypersensitivity clinics and sees patients with HIV. Her work in translational pharmacogenetics, has included the application of HLA-B*5701 genetic screening to clinical practice for abacavir hypersensitivity which has created a roadmap for the application of pharmacogenetic tests from discovery through to clinical translation. Her expertise in phenotyping of major drug reactions is now being applied as part of major international consortiums applying genome wide association studies to immunologically mediated adverse drug reactions. A major component of her ongoing research relates to the immunologic and pharmacogenetic basis of drug hypersensitivity reactions.

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• Munir Pirmohamed
  

  Munir Pirmohamed

  Professor Munir Pirmohamed is currently Professor of Clinical Pharmacology at the University of Liverpool, and a Consultant Physician at the Royal Liverpool University Hospital. He also holds the only NHS Chair of Pharmacogenetics in the UK, and is Deputy Director of the M.R.C. Centre for Drug Safety Sciences, and Director of the Wolfson Centre for Personalised Medicine. Professor Pirmohamed is a Commissioner on Human Medicines and is the Chair of its Pharmacovigilance Expert Advisory Group. He is also an inaugural NIHR Senior Investigator, and has authored over 250 peer-reviewed publications. Professor Pirmohamed's research focuses on individual variability in drug response, both safety and efficacy, with a view to evaluating the mechanisms, and identifying strategies to personalise medicines in order to optimise drug efficacy and minimise toxicity. The work spans the whole spectrum from discovery to implementation with laboratory based studies being linked translationally to patient studies, with the aim being to develop the evidence base that can move discoveries from the lab to the clinic. The translational research agenda has been strengthened through the award of the MRC Clinical Pharmacology training scheme for clinical fellows. Professor Munir Pirmohamed has received a number of honours including in 2011, the William Withering Medal from the Royal College of Physicians and the IPIT award for Public Service from the University of North Carolina in the US.

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• Maude Phipps
  

  Maude Phipps

  Maude Elvira Phipps is Professor of Human Molecular Genetics at the Jeffrey Cheach School of Medicine and Health Sciences in Monash University (Sunway Campus). Her early research focused on antibiotic resistance and virulence factors in pathogenic bacteria at the University of Malaya and she later read molecular pathology at the University of Cambridge, United Kingdom. Whilst at the Faculty of Medicine, University of Malaya, Maude contributed substantially to the development of biomedical sciences, specialist training and research programmes. Together with colleagues, she began researching molecular genetics of autoimmune diseases and transplantation mechanisms, in collaboration with researchers the Oxford Transplant Centre and the University of Western Australia. These efforts resulted in the setting up of a new service for molecular immunogenetics and transplantation matching at the University of Malaya Medical Centre. Her current research focuses on the genomics of Homo sapiens to answer questions related to our evolution, migration and health. Apart from translational medicine, she is a keen advocate of bioethics education and research programmes in Asia, especially in rapidly developing countries which have placed biotechnology high on their development agendas. She has published extensively in international journals, has been an invited speaker at numerous international meetings and supervised many graduate students over the years. Maude is an active member of the Human Genome Organization (HUGO), the Asian Bioethics Association, the Genetics Society of Malaysia and the Malaysian Society of Molecular Biology and Biotechnology.

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• Bing Ren
  

  Bing Ren

  Dr. Ren was born in China and received his Bachelor's Degree in Biophysics from the University of Science and Technology of China, located in Hefei, China. He then moved to the USA and trained with the molecular biology pioneer Dr. Tom Maniatis at Harvard University, receiving a Ph.D. in Biochemistry at 1998. After a brief postdoctoral training in genomics with Dr. Richard Young at the Whitehead Institute, he joined the faculty of University of California, San Diego (UCSD) and the Ludwig Institute for Cancer Research (LICR) in 2001. He was promoted to full Professor at UCSD and full Member status at LICR in 2009. Dr. Ren’s research has been focused on understanding the fundamental mechanisms controlling gene expression in mammalian cells. In particular, his laboratory has been investigating three related problems: 1) What are the transcriptional regulatory sequences that control cell-specific gene expression programs in the mammalian genomes? 2) How do these sequence elements interact with transcription factors and chromatin binding proteins to regulate gene expression during cellular differentiation? 3) How do epigenetic mechanisms (DNA methylation and chromatin modifications) influence the gene regulatory process? To achieve these goals, the laboratory has been using an integrative approach that combines high throughput experimental methods and computational means to examine a variety of model systems, including human embryonic stem cells, cancer cells, the laboratory mouse and fruit flies. Research accomplishments from the laboratory include development of high throughput method for mapping transcription factor binding sites in the human genome (ChIP-chip), comprehensive mapping of promoters, enhancers, and insulator elements in the human genome, and characterization of the epigenomic landscapes in pluripotent and lineage-committed human cells. Currently, Dr. Ren directs the San Diego Epigenome Center, one of four Reference Epigenome Mapping Centers supported by the NIH Epigenome Roadmap program.

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• John Rinn
  

  John Rinn

  John L. Rinn received a B.S. in Chemistry from the University of Minnesota and a Ph.D. from Yale University in Molecular Biophysics and Biochemistry, where he studied genome-wide transcription and discovered non-coding RNAs in Mike Snyder’s lab. He performed postdoctoral training as a Damon Runyon Cancer Research Foundation fellow at Stanford University in Howard Chang’s lab, where he identified large non-coding RNAs and studied the role of HOX genes and non-coding RNAs during skin fate specification and maintenance. He is an Assistant Professor of Stem Cell and Regenerative Biology at Harvard University and a Senior Associate Member of the Broad Institute. His lab continues to identify RNA genes to unravel their roles in establishing cellular identity and their misregulation in diseases such as cancer.

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• Yijun Ruan
  

  Yijun Ruan

  Dr Ruan is a genomic researcher at the Genome Institute of Singapore, A*STAR. His research interest is to elucidate the structure and dynamics of functional DNA elements in the human genome. His strategy is to develop innovative genomics technologies and apply them to address questions pertinent to human disease. To this end, his main focus is on genome functions and genome variations in cancer cells.

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• Stephen Scherer
  

  Stephen Scherer

  Dr. Scherer holds the GlaxoSmithKline-CIHR Endowed Chair in Genome Sciences at The Hospital for Sick Children and University of Toronto. He has made numerous contributions to medical genetics including mapping sequencing and disease gene studies of human chromosome 7. In 2004, his team co-discovered global gene copy number variation (CNV) and has since shown that CNV is the most abundant type of nucleotide variation of human DNA. His group then identified CNV to contribute to the etiology of autism and many other disorders, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year. His work is documented in >300 publications and patents cited more than 20,000 times. Dr. Scherer has won numerous honors such as the 2004 Steacie Prize, an International Howard Hughes Medical Institute Scholarship, and the 2008 Premier’s Summit Award for Medical Research. Dr. Scherer is a Canadian representative on the HUGO Council.

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• Stephen Simpson
  

  Stephen Simpson

  Steve Simpson returned to Australia after 22 years at Oxford University in 2005 as an ARC Federation Fellow. He is currently an Australian Research Council Laureate Fellow in the School of Biological Sciences and is soon to take up the appointment as Academic Director of the Centre for Obesity, Diabetes and Cardiovascular Disease at the University of Sydney. Together with colleague David Raubenheimer, Steve developed an integrative modeling framework for nutrition (the Geometric Framework), which was devised and tested using insects but has since been applied to a wide range of organisms, from slime moulds to humans, and problems, from aquaculture and conservation biology to the dietary causes of human obesity and ageing. In addition to nutritional biology, Steve’s research on locusts has led to an understanding of locust swarming that links chemical events in the brains of individual insects to landscape-scale mass migration. In 2007 he was elected a Fellow of the Australian Academy of Science, in 2008 he was awarded the Eureka Prize for Scientific Research, in 2009 he was named NSW Scientist of the Year, and in 2010 he was elected Wigglesworth Medallist by the Royal Entomological Society of London.

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• Peter Schofield
  

  Peter Schofield

  Professor Peter Schofield is Executive Director and CEO of Neuroscience Research Australia, one of Australia’s leading centres for neuroscience research, and a Professor of Medicine of the University of New South Wales. He obtained his PhD in genetics from the Australian National University in 1985 and a DSc from University of New South Wales in 1998. He has worked in both the biotechnology industry and in academic medical research institutes in the US (Genentech), Germany (Centre for Molecular Biology, Heidelberg) and Australia (Pacific Biotechnology, Garvan Institute). His research interests focus on understanding how signaling in the brain occurs, and identifying genes that lead to psychiatric and neurodegenerative disorders and understanding how signaling occurs in the brain. He has published over 200 papers and holds several patents.

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• Timothy Smith
  

  Timothy Smith

  Timothy D. Smith is the laboratory liaison officer for the Human Variome Project Australian Node, a project led by the Department of Pathology at the University of Melbourne to provide a mechanism for diagnostic labs and clinicians to share information on genetic variations discovered in Australian patients. He is also the Communications Officer for Human Variome Project International Ltd., the Coordinating Office for the international Human Variome Project. Timothy 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 investigating novel methods for supporting that process through the application of technology. He is the author of the VariVis software program for genetic data visualisation.

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• Michael Snyder
  

  Michael Snyder

  Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the field of functional genomics and proteomics. His laboratory study was the first to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal findings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs between and within species. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Tehcnologies) and Affomix (now part of Illumina) and he presently serves on the board of a number of companies.

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• Terry Speed
  Terry Speed

  Terry Speed received a BSc at the University of Melbourne majoring in mathematics and statistics, and PhD in mathematics at Monash University. He has held appointments at universities in Australia, the UK and the USA, as well as in Australia's CSIRO, and he is now head of bioinformatics at WEHI and emeritus professor in the Department of Statistics at UC Berkeley. His current research interests focus on cancer genomics.

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• Patrick Tan
  

  Patrick Tan

  Dr. Patrick Tan holds a joint appointment as an Associate Professor at the Duke-NUS Graduate Medical School and a Group Leader at the Genome Institute of Singapore. He is a Program Leader in Genomic Oncology at the Cancer Science Institute of Singapore, National University of Singapore and a Research Associate Professor in the Institute of Genome Sciences and Policy at Duke University, USA. His research focuses the application of genomics to cancer and infectious disease. He received his B.A. (summa cum laude) from Harvard University and MD PhD degree from Stanford University, where he received the Charles Yanofsky prize for Most Outstanding Graduate Thesis in Physics, Biology or Chemistry. Locally, he has received the President’s Scholarship, Loke Cheng Kim foundation scholarship, Young Scientist Award (A-STAR), Singapore Youth Award (twice), and the Singhealth Investigator Excellence Award. He is an editorial board member of the journals BMC Medical Genomics, PLOS One, and SGH Proceedings. He is a member of the Local Review Panel (LRP) to the National Medical Research Council and Biomedical Research Council, a member of Specialists Accreditation Board, Translational Medicine, and Bioethics Advisory Committee (BAC), a national body that provides advice to the Singapore government on ethical issues related to biomedical research.

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• Maile Tauali’i
  

  Maile Tauali’i

  Dr. Maile Tauali’i is the Director of the Native Hawaiian Epidemiology Center, housed at Papa Ola Lokahi, the Native Hawaiian Health Board. She completed her graduate studies in Public Health Informatics and Public Health Genetics at the University of Washington. Prior work includes the development of the Urban Indian Health Institute, a Tribal epidemiology center. She is an Assistant Professor and Chair of Health Policy and Management at the University of Hawaii where she brings cultural, ethical, and community-oriented perspectives to the instruction of public health.

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• Yoshiaki Uyama
  

  Yoshiaki Uyama

  Yoshiaki Uyama is currently Director, Regulatory Science Research Division, Office of Regulatory Science, Pharmaceuticals & Medical Devices Agency (PMDA) of Japan. He leads the research of regulatory science in PMDA and coordinates PMDA’s activities relating to regulatory science. He is also the leader for PMDA Omics Project (POP). He received his Ph.D. degree from the Nagoya City University in 1994 and became a research fellow for Japan society for the promotion of science. He was a post-doctoral fellow in University of Calgary, Canada in 1994-1995 before being a researcher in the Tokyo Metropolitan Institute of Medical Science (1995-1998). In 1998, he joined to the Ministry of Health and Welfare (present: Ministry of Health, Labour & Welfare) as a technical officer. He started his review for new drugs in Pharmaceuticals & Medical Devices Evaluation Center of National Institute of Health Science (PMDEC) in 2001 and continues his career on drug review in PMDA since April 2004, including the career as the Review Director (2007-2010), ICH Technical Coordinator (2004-2009) and the topic leader of ICH E15 and E16.

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• Gert van Ommen
  

  Gert van Ommen

  Prof. dr. Gert-Jan B. van Ommen, PhD, is head of the Department of Human Genetics of Leiden University Medical Center (LUMC). He is Director of the Center for Medical Systems Biology, CMSB, and of BBMRI-NL. Van Ommen has as major research interests the application of genome technologies for disease study and the development of diagnosis, therapy and prevention, as well as the societal aspects of genetic advances. His group has contributed to the finding of the genes and disease mechanisms of DMD, HD, PKD, FSHD, FraX, Rubinstein-Taybi Syndrome, Familial Hemiplegic Migraine and Episodic Ataxia. His group has pioneered exon-skipping as therapy for DMD, in collaboration with Prosensa, and later GSK. This is now the potential therapy closest to market. Currently his group is extending exon skipping to other diseases including HD and CADASIL. Van Ommen is past president of HUGO and ESHG, and strongly involved in international biobanking in P3G and BBMRI.

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• Joris Veltman
  

  Joris Veltman

  I have been fascinated by the possibilities of genomics technologies to explain the causes of human disease ever since these technologies became available. For this purpose I have built a multidisciplinary research group with expertise in genome technology, molecular biology, computational science and clinical genetics. In the beginning of this millennium I pioneered microarray-based detection of copy number variations in clinical genetics. My current work focuses on studying the role of rare de novo mutations in severe neurodevelopmental and psychiatric diseases, by using next generation sequencing technology and combining laboratory experiments with novel bioinformatic approaches. I am also actively involved in the implementation of next generation sequencing approaches in routine clinical diagnosis and in promoting a more central role for genetics in medicine. The combination of fundamental research, technology development and clinical application in human genetics is to me both challenging and promising.

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• Peter Visschera
  

  Peter Visschera

  Peter Visscher was born in The Netherlands from Dutch and English parents. His undergraduate degree was in Animal Science. He moved to Edinburgh in 1987 for an MSc and subsequent PhD in animal breeding and genetics, working on the estimation of genetic parameters in large livestock pedigrees. A postdoctoral period in Melbourne was followed by a return to Edinburgh, where he developed methods to map genetic loci underlying complex traits. In 1995 he moved to a faculty position at the University of Edinburgh, developing gene mapping methods and software tools, with practical applications in livestock and human populations. Visscher joined the Queensland Institute of Medical Research in 2005 and recently moved to the University of Queensland where he is Professor and Chair of Quantitative Genetics. Visscher is a Senior Principal Research Fellow of the Australian National Health and Medical Research Council and was elected a Fellow of the Australian Academy of Science in 2010. Visscher’s research interests are focussed on a better understanding of genetic variation for complex traits, including quantitative traits and disease.

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• Jane Visvader
  

  Jane Visvader

  Jane Visvader is Joint Head of the Division of Stem Cells and Cancer, and the Breast Cancer Laboratory at The Walter and Eliza Hall Institute. She carried out her PhD studies in the Department of Biochemistry at the University of Adelaide, and held subsequent positions as a postdoctoral fellow at the Salk Institute and Research Associate at the Children’s Hospital, Boston. She was awarded a NHMRC Australia Fellowship in 2011. Visvader serves on the Medical and Scientific Advisory Committee of the Cancer Council Victoria and the Scientific Advisory Council of the National Breast Cancer Foundation. She is a Senior Editor for Cancer Research and a member of the Editorial Boards of Cell Stem Cell, Molecular Oncology and Breast Cancer Research. Her laboratory focuses on understanding the epithelial hierarchy in normal and cancerous breast tissue, as well as identifying genes important for regulating mammary development.

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• Robyn Ward
  

  Robyn Ward

  Professor Robyn Ward is a medical oncologist who has achieved a significant record of scholarship, research and academic leadership in translational and clinical cancer research. She has been actively involved in research across the spectrum of cancer care and control since 1994, with a focus on translating discoveries in the laboratory into benefits for patient care. Professor Ward is Clinical Associate Dean and Professor of Medicine at Prince of Wales Hospital where she heads the Clinical School at the Faculty of Medicine, UNSW, and also leads the Adult cancer program at the Lowy Cancer Research Centre. Professor Ward’s achievements have been recognised by the Commonwealth Health Minister’s Award for Excellence in Health and Medical Research (2004) and the Premier’s Award for Outstanding Cancer Research (2007). Much of her research is focused on role of epigenetics in the development and progression of colorectal cancer.

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• Marc Wilkins
  

  Marc Wilkins

  Marc Wilkins developed the concept of the proteome and coined the term. His seminal publications on proteomics, including co-authoring and co-editing the first book for the field, contributed to the establishment of the proteome and of proteome research. Prof. Wilkins has published more than 110 journal publications and book chapters. A focus has been to combine sophisticated bioinformatics with novel technology to open new avenues for biological investigation. Since joining the University of New South Wales in 2005, Prof. Wilkins has focused his research on systems biology and understanding the dynamics of protein interaction networks.

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• Serena Wu
  

  Serena Wu

  Serena Wu is the Founder and Managing Director of Taiwan Foundation for Rare Disorders, and also the Chair of Taiwan Organization for Disadvantaged Patients. Serena received her B.A. degree from Dept. of Political Science, Soochow University 1972. Her social policy and advocacy participation include being a Committee Member of Committee for Rare Disorders and Orphan Drugs Review and Examination, Department of Health, Taiwan, ROC; Committee Member of Protection Committee for the Disabled, Taipei City Government; Committee Member of Identification Committee for Disability, Taipei City Government; and Board Member, League of Welfare Organizations for the Disabled, ROC. Ms. Wu is the recipient of several awards including “Medical Dedication Award” by Health, Welfare & Environment Foundation, Legislative Yuan, ROC; “International Caring for Life Award” by the Dharma Drum Mountain, Taiwan; “Golden Bell Broadcasting Award” as the producer of “Hsin Love World,” a radio program; “Outstanding Parent of Mentally and Physically Disabled Citizens”; "Best Public Service" by the Public Relations Foundation, and 1st “Rare Disease Drugs Supply and Manufacture & Research and Development Award” by Department of Health, Executive Yuan.

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• Shuhua Xu
  

  Shuhua Xu

  Dr. Shuhua Xu is professor of human population genetics and Principal Investigator of Population Genomics Group at the CAS-MPG Partner Institute for Computational Biology. He has been recently appointed to a five-year term position of Max-Planck Independent Research Group Leader. He received his PhD at Fudan University; his scientific research has focused on human population structure, local adaptation and complex trait gene mapping. Dr. Xu has authored many scientific papers published in Science, The American Journal of Human Genetics, Genome Research, Human Molecular Genetics, Molecular Biology and Evolution, the PLoS and the BMC series. Dr. Xu is the recipient of a number of awards for young scientists: Top 100 National Outstanding Doctoral Dissertation Award in China; Chia-Si Lu Scholarship of Chinese Academy of Sciences (CAS); Sanofi Aventis (SA)-SIBS Young Faculty Award (France); Life Science Award, MEIJI Dairies Corp (Japan); Shanghai Rising-Star Award, bestowed by the Science and Technology Commission of Shanghai Municipality.

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• Hub Zwart
  

  Hub Zwart

  Hub Zwart (1960) studied philosophy (cum laude) and psychology (cum laude) at Radboud University Nijmegen. He worked as research associate at the Centre for Bioethics (Maastricht, 1988-1992) and defended his thesis in 1993 (cum laude). Subsequently, he was appointed as research director of the Centre for Ethics (Nijmegen, 1992-2000) In 2000 he became full professor of philosophy at the Faculty of Science. He was European lead of the EU - Canada exchange program Coastal Values (1999-2003) and in 2004 he established the Centre for Society and Genomics (CSG) at his Department. The focus of his research is on philosophical dimensions of the life sciences: biomedicine (1988-1996), research with animals (1996-2003), environmental research (1998-2003), genomics (notably human genomics and ecogenomics, 2003-) and post-genomics (synthetic biology, human enhancement).

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