Speakers and panel members
Jeffrey Barrett is the Director of the Centre for Therapeutic Target Validation, a public-private partnership between GSK, EMBL-EBI and the Wellcome Trust Sanger Institute to analyze genome-scale human genetics data to change the earliest stage of making medicines: identifying and validating the right targets for new treatments. He first became interested in human genetics during his time at the Whitehead Institute before moving to Oxford to undertake a D. Phil in statistical genetics. Jeff was an analyst in the Wellcome Trust Case Control Consortium, and led early GWAS meta-analyses in inflammatory bowel disease and type 1 diabetes while a postdoc in Cambridge. Since joining the Sanger Institute as a group leader in medical genomics, he has used next-generation sequencing in thousands of individuals to find variation associated with both rare and common human diseases. Jeff is a member of the management for the Deciphering Developmental Disorders study, where he has been closely involved in the development of statistical approaches to inform diagnoses from exome sequencing.
Ewan Birney is Joint Associate Director of the European Molecular Biology Laboratory-European Bioinformatics Institute and runs a small research group. Ewan played a vital role in annotating the genome sequences of the human, mouse, chicken and several other organisms; this work has had a profound impact on our understanding of genomic biology. He led the analysis group for the ENCODE project, which is defining functional elements in the human genome. Ewan’s main areas of research include functional genomics, assembly algorithms, statistical methods to analyse genomic information (in particular information associated with individual differences) and compression of sequence information. Ewan has received a number of prestigious awards including the 2003 Francis Crick Award from the Royal Society, the 2005 Overton Prize from the International Society for Computational Biology and the 2005 Benjamin Franklin Award for contributions in Open Source Bioinformatics. He was elected a Fellow of the Royal Society in 2014.
Phil Bourne is Associate Director for Data Science at the National Institutes of Health. Formerly he was Associate Vice Chancellor for Innovation and Industry Alliances, a Professor in the Department of Pharmacology and Skaggs School of Pharmacy and Pharmaceutical Sciences at the University of California San Diego, Associate Director of the RCSB Protein Data Bank and an Adjunct Professor at the Sanford Burnham Institute. His professional interests focus on service and research. He serves the biomedical community through contributing ways to maximize the value (and hence accessibility) of scientific data. His research focuses on relevant biological and educational outcomes derived from computation and scholarly communication. Phil has co-founded 4 companies and is the co-founder and founding Editor-in-Chief of the open access journal PLOS Computational Biology. He is a Past President of the International Society for Computational Biology, an elected fellow of the American Association for the Advancement of Science (AAAS), the International Society for Computational Biology (ISCB) and the American Medical Informatics Association (AMIA).
Søren Brunak is a physical and biological scientist working in bioinformatics. He has been the director of the Center for Biological Sequence Analysis at the Department of Systems Biology of the Technical University of Denmark since 1993. Søren obtained his Masters in Physics in 1987 at the Niels Bohr Institute, University of Copenhagen, followed by a Ph.D. in Computational Biology at the Department of Structural Properties of Materials, Technical University of Denmark. In 2002 he was awarded a Dr.phil. (h.c.) from the Natural Science Faculty of the Stockholm University. He has been a member of the Danish Academy for the Natural Sciences since 1997, member of the Board of directors of the International Society for Computational Biology since 2001, of the Danish Academy of Technical Sciences since 2002, and of the Danish Royal Society of Science and Letters since 2004. Søren's main research is in Bioinformatics and systems biology, focussing in particular on the prediction of protein properties from their sequences.
Kate Bushby is a Clinical Academic Professor with joint appointments with Newcastle University and the Newcastle Upon Tyne Hospitals. She is a leader of the team at the John Walton Muscular Dystrophy Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases based at the Institute of Genetic Medicine. Working in the field since 1989, Kate’s interests are focussed on inherited muscular dystrophies from gene identification, disease characterisation and care standards to therapy development and delivery. Kate has a substantial grant portfolio fromthe EU, MRC and other funding organisations and over 200 publications. She has acted as PI on several industry and academic led clinical trials and natural history studies. This expertise in NMD has developed into a broader leadership role in Rare Disease Policy. Kate was a co-ordinator of the TREAT-NMD network and continues to work on its scientific secretariat, developing trial and therapy readiness in neuromuscular diseases. She led the EUCERD Joint Action on Rare Diseases and continues as policy co-ordinator on a new Rare Disease Joint Action 2015-2018. She is an NIHR Senior Investigator and 2015 recipient of the Eurordis Award for Research into Rare Diseases.
Edwin Cuppen obtained his PhD in 1999 at Radboud University in Nijmegen. After half a year at the Whitehead Institute he was a postdoc at the Netherlands Cancer Institute in Amsterdam and the Hubrecht Institute in Utrecht until 2002, when he became staff scientist at the Hubrecht Institute. In 2007 Edwin was appointed professor of Genome Biology at Utrecht University and in 2009 professor of Human Genetics and head of the research section of the Medical Genetics department of the University Medical Center Utrecht. Edwin's area of expertise is in genomics and genetics and his scientific interests are in functional and personal genomics. In his current work, Edwin combines NGS technology and animal model studies with bioinformatics to identify functional elements in genomes and to understand the effects of genetic variation under normal and disease conditions. He is also involved in implementing NGS approaches for diagnostic purposes in clinical genetics and personalized cancer treatment. Edwin has filed a number of patents and is cofounder of the biotech startup company InteRNA Technologies, and is an advisor for several biotech startups in the area of genomics technology and bioinformatics.
Jim Davies studied mathematics at New College, Oxford, joining the Computing Laboratory (now Department of Computer Science) in 1986 for a Masters' and doctorate. After working as a researcher and lecturer in computer science at Oxford and Reading, he became a lecturer in software engineering at Oxford in 1995. Jim has led the Software Engineering Programme since 2000 and was made Professor of Software Engineering in 2006. He directs a programme of advanced, professional education in software engineering, teaching advanced techniques to people working full-time in industry. He is leading the development of semantics-driven technology for medical research and electronic governance, and a related programme of work into the automatic generation of systems from re-usable models of structure and functionality. Jim is also Chief Technology Officer of Genomics England, a company wholly owned and funded by the U.K. Department of Health set up to deliver the 100,000 genome project, which will sequence whole genomes of a very large number of patients treated within the UK National Health Service system by 2017. The project will focus on patients with a rare disease and their families and patients with cancer.
Jan Ellenberg studied biology at the Universities of Hamburg and Berlin, Germany, before obtaining his Ph.D. at the National Institutes of Health (NIH). After a short postdoc at the NIH, he joined the European Molecular Biology Laboratory (EMBL) as a group leader in 1999, where he has coordinated the Centre for Molecular and Cellular Imaging since 2004, became senior scientist and head of the Gene Expression Unit in 2006 and head of the Cell Biology and Biophysics Unit in 2010. Jan has scientifically coordinated Euro-BioImaging, the pan-European research infrastructure for biological imaging technologies, during its initial formation and preparation (2007-2014), and is currently leading the implementation of this project for EMBL. He coordinates the participation of Euro-BioImaging partners in the BioMedBridges (2011-2015) and CORBEL (2015-2019) cluster projects. His current research at EMBL focuses on systems biology of cell division and nuclear organisation, for which he develops and employs the latest imaging technologies in the areas of correlative light-electron, super-resolution, light sheet, and high throughput microscopy.
Helen Firth is a Consultant Clinical Geneticist at Cambridge University Hospitals, an Honorary Faculty Member of the Wellcome Trust Sanger Institute, and Bye-Fellow of Newnham College, Cambridge. Her main research interests are in mapping of the clinical genome and the matching of rare genomic variants to empower discovery and diagnosis in rare disease. In 2004, Helen initiated the DECIPHER project that enables clinicians and scientists around the world to share information about rare genomic variants to facilitate diagnosis and help to elucidate the role of genes whose function is not yet known. Since 2010 Dr Firth has been Clinical Lead for the Deciphering Developmental Disorders (DDD) study. DDD is a partnership project between the UK NHS and WTSI that is using detailed genomic analysis of >13,500 children with severe developmental disorders in order to improve the diagnosis of these conditions and to further understand their genomic architecture and biology.
Alex Gutteridge is a Senior Principal Scientist at Pfizer's Neuroscience research site in Cambridgeapplying genomic and computational methods to enable all aspects of drug development. Alex received his PhD in 2005 from the European Bioinformatics Institute for research into the structural biology of enzymes. This was followed by postdocs in Kyoto, Japan and Cambridge using functional genomics to study the systems biology of model organisms. Alex joined Pfizer in 2010 where his primary interests have been in the application of genomic technologies to regenerative medicine, humanising disease modelling using stem cells and the integration of genomics with electronic medical record data.
Andrew Leach Following a degree in Chemistry at the University of Oxford Andrew’s initial research was in the field of computational chemistry, with a D.Phil. from Oxford, post-doctoral studies at the University of California San Francisco and a research fellowship at the University of Southampton. In 1994 he joined Glaxo where his contributions have included the development and application of computational and cheminformatics methodologies to support drug discovery, the delivery of new hit and lead discovery approaches including fragment-based drug discovery, and the implementation of cardiovascular safety strategies. He currently leads a global group that applies structural biology, biophysics and biological mass spectrometry platforms across multiple therapeutic areas.
Peter Luijten received his training in physical and theoretical chemistry from 1972-1979 (Amsterdam). After finalizing his thesis on NMR studies of molecular dynamics in liquid crystals (1984, Amsterdam, San Diego), he became a research scientists at Philips Medical Systems in the Magnetic Resonance Imaging division. Peter developed multiple new technologies resulting in several patent applications and peer reviewed scientific journals. In 2005 he was appointed Professor of Functional Medical Imaging at the University Medical Center in Utrecht, and chair of the imaging department in 2014 and director of the UMC Utrecht Center for Image Sciences in 2015. In 2007 he was appointed Chief Scientific Officer of the Center for Translational Molecular Medicine, a position he holds jointly with his academic appointment at the University of Utrecht. Peter has served on the board of trustees of the International Society of Magnetic Resonance in Medicine and was appointed a fellow of this society in 1995. He received the European Magnetic Resonance Award for Basic Sciences in 2002.
Ruth March is Vice President of AstraZeneca’s Personalised Healthcare & Biomarkers function. A member of the senior team leading Innovative Medicines & Early Development, Ruth is accountable for delivering companion diagnostics and validated biomarkers to AstraZeneca drug projects, targeting medicines across all therapy areas to those most likely to benefit. She has led development of AstraZeneca’s capability in Personalised Healthcare (PHC), ensuring 80% of drug projects are following a PHC approach, and has enabled regulatory approvals linked to companion diagnostics, including: LYNPARZA (EU and US), IRESSA (2009, 90 countries) and based on circulating tumour DNA (EU, 2014 and China, 2015). She has pioneered: the first FDA-approved lab-based companion diagnostic, the first diagnostic partnership for next generation sequencing, and PHC across therapy areas. Ruth is a member of the Supervisory Board for Definiens, whose software aims to predict response to immuno-oncology treatment. Her academic research was key to the submission of the first genome-wide SNP analysis to the FDA.
Willem Ouwehand is Professor of Experimental Haematology at the University of Cambridge and the Wellcome Trust Sanger Institute. He obtained his medical degree and science PhD at the University of Amsterdam, the Netherlands. He holds honorary Consultant Haematologist appointments at Cambridge University Hospitals and NHS Blood and Transplant. Willem leads a research team of ~30 staff, which studies on the formation and function of platelets with a focus on their role in heart attacks and stroke, respectively. Five team leaders direct research in epigenomics of megakaryopoiesis, myeloid blood cell function, myeloid granules in model systems and clinical bioinformatics and statistical genomics. Willem is also Director of the NIHR BioResource–Rare Diseases and oversees a team of 35 staff who are responsible for the genotyping by Whole Genome Sequencing of 10,000 patients with the purpose to define the molecular mechanisms underlying their rare disorders.
Janet Thornton has been Director of the European Molecular Biology Laboratory-European Bioinformatics Institute since 2001. EMBL-EBI provides core bioinformatics services, especially public biological data for genome and protein sequences and structures, small molecule data and integrated proteomic, metabolomics and transcriptome information. The institute also performs investigator led bioinformatics research. Janet also has a research group specialising in protein structural bioinformatics and the computational biology of ageing. She has published more than 400 scientific papers, was elected to the Royal Society in 1999 and is a Foreign Associate of US National Academy of Sciences. In 2012 she became a Dame Commander of the Order of the British Empire for services to bioinformatics. Janet coordinated the initial formation and preparation of ELIXIR (2006 – 2013) and is the BioMedBridges Coordinator.
Mathias Uhlén received his PhD in chemistry at the Royal Institute of Technology (KTH), Stockholm, Sweden. After a post-doc at the EMBL, he became professor in microbiology at KTH in 1998. Mathias' research focus has been the development and use of affinity reagents in biotechnology and biomedicine. He was the first to describe the use of affinity tags for purification of proteins, a principle now widely used in bioscience. In the nineties his group described a new strategy for DNA analysis called Pyrosequencing, a method that was then further developed into the first of a new generation of NGS methods. Mathias' group also developed a new affinity reagent called Affibodies, based on combinatorial principles and, in addition, developed alkali-stable variations of protein A, now commercially available for purification of antibodies. In the early 2000s, his group started an international effort with groups in Sweden, India, China and South Korea, for the creation of the Human Protein Atlas. Mathias is now the Director of a new center Science for Life Laboratory Stockholm for high-throughput bioscience, SciLifeLab.