James R. Lupski
Jim Lupski is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics. Dr. Lupski received his initial scientific training at the Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University receiving his undergraduate degree in chemistry and biology (1979) and 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. 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 variants (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. The conceptualization and mechanistic understanding of genomic disorders has been among the lab’s most significant contributions; including the elucidation of Non-Allelic Homologous Recombinations (NAHR) and the replication based mechanisms of Fork Stalling Template Switching (FoSTeS) and Microhomology Mediated Break Induced Replication (MMBIR). Dr. Lupski’s laboratory has also used chromosome engineering to develop mouse models for genomic disorders and provide model organism evidence for mirror traits. Recently, the laboratory's CMT studies in
collaborations with Richard Gibbs and the Baylor Human Genome Sequencing Centre 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. Jim is an elected member of the American Association for the Advancement of Science (1996), the America Society of Clinical Investigation (1998), the Institute of Medicine of the National Academies of Science (2002), and the American Academy of Arts and Sciences (2013) 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 682 scientific publications, is a co-inventor on more than 20 patents regarding molecular diagnostics and has delivered over 507 invited lectures in 36 countries.
John is a member of IBM’s global Healthcare and Life Sciences Industry team, with a specific focus on the European market. He is also a member of the IBM Industry Academy, and the IBM Faculty Academy. He advises and contributes to a number of European and Global healthcare IT industry associations, including COCIR, Continua. He is the lead IBM contributor for the European Innovation Partnership on Active and Healthy Aging (Action Area B3 – Integrated Care), and is one of several IBM executive sponsors of EIT Health, a European alliance for healthy living and active ageing.
John is President, since January 2016, of the European Health Telematics Association (EHTEL), a multi- stakeholder membership organisation dedicated to the promotion of eHealth and new models of care. He is also a Board Member of HIMSS for the period April 2016 to June 2018.
Sirpa (LL.M. trained at the bench) is a specialist of biomedical law & regulation. She works at Helsinki Biobank, Helsinki University Hospital. Alongside legal practice, she is engaged in various research and collaboration projects. Her competence areas include regulation and ethics of translational and genomic medicine, biobanking, privacy and data protection, IPR and public health issues.
Carsten Obel is Professor at the Department of Public Health as well as Director of the Centre for Collaborative Health at Aarhus University. During the last 25 years he has conducted epidemological research with focus on health in life course perspective He has worked as a general practitioner in Denmark, Greenland and Norway. At the Centre for Collaborative Health Carsten Obel aims to address complex health challenges through interdisciplinary collaboration.
between researchers, public authorities, business partners and other stakeholders. In addition Carsten is a medical consultant at the Danish Committee for Health Education, he provides medical consulting for the police force in Aarhus and the Norweigian ski patrol in Hafjeld, Norway.
ELIXIR is the European infrastructure for bioinformatics and life- science data, based in Hinxton, UK. Prior to joining ELIXIR, Serena was a Director within the Human Genetics and Computational Biomedicine group at Pfizer. In this role, she led and implemented a genetic and precision medicine strategy to support drug target selection and clinical programmes for the Pain and Sensory Disorders Research Unit. She was also a member of the ABPI Stratified Medicine Working Group.
Earlier in her career, she worked within the Toxicogenomics group at GlaxoSmithKline. She gained postdoctoral experience at the University of Cambridge and Imperial College London and a PhD from the University of Cambridge, with a focus on the genetic susceptibility to disease.
Julia builds and supports the relationships that are needed to support the strategic vision of the Sanger Institute. These activities range from interactions with the scientific community, commercial entities, funders and other key stakeholders.
She increases awareness of the Sanger Institute’s research, explore new collaborations and areas of research, and strengthen and build on existing links to accelerate and expand the impact and reach of Sanger Institute science. She works to translate the outcomes of research and reposition the Sanger Institute as a potential source of translational opportunities. In addition she raises awareness of the importance and impact of genomics research with policy makers and facilitates the translation of genomics research into clinical practice.
Heidi Beate Bentzen
Heidi Beate Bentzen is a PhD Candidate in law at The Centre for Medical Ethics at The Faculty of Medicine and The Norwegian Research Centre for Computers and Law at The Faculty of Law, University of Oslo, Norway. She collaborates with The Norwegian Cancer Genomics Consortium. Ms. Bentzen holds a Master of Laws degree from The University of Oslo, with specialization in data privacy law and medical law. Her research focuses on the legal regulation of the information flow pertaining to personalized cancer medicine, i.e. the legal regulation of genetic testing, and the processing of human biological samples and DNA data, including sample reuse and DNA data sharing. Ms. Bentzen also co-chairs the European research network COST Action IS 1303 CHIP ME working group 1 on research ethics, which focuses on the ethical and legal issues of research biobanks.
Terry is the Faculty and Staff Advisor of the Department of Genetics at UMC Utrecht, the Netherlands. As such, he prepares the management team and staff members for future developments in clinical genetics. At the same time he involves a wide variety of stakeholders in his mission to develop a strategy for the ‘Genetics Clinic of the Future’. Terry obtained his Ph.D. on the genetic background of schizophrenia at the Radboud
University Nijmegen Medical Centre (RUNMC), the Netherlands. He obtained his M.Sc. in Animal Genetics at Wageningen University and Research Centre (WUR).
Terry has been largely involved in networking and career development for young scientists. As chairman of the
Genomics Network for Young Scientists (GeNeYouS) he has contributed to the development of a platform for young life scientists. He has been involved in many public engagement activities, and has experimented with various tools and settings to provide applications of genetics in society. In his annual contribution to Nederland in Ideeën ('The Netherlands in Ideas'), he lays out some of his ideas for the future of genetics in society.
Dr Harriet Teare’s research interests relate to the role of participants in medical research, and improving governance infrastructure to support communication and interactive engagement. She contributes to a number of specific research projects, including providing research governance and ethical support to the DIRECT project – an IMI-JU funded collaboration exploring stratification in Type 2 diabetes, the Rudy project – a research network for rare diseases of the blood, bone and joints, and leads a work package focusing on consent in the Genetics Clinic of the Future – a Horizon 2020 project mapping the complex challenges that will need to be tackled to introduce genome sequencing more widely into the clinic. Harriet obtained a DPhil in Chemistry from Merton College, University of Oxford, and previously worked as a senior policy advisor at Cancer Research UK, focusing on policy issues relating to science and research, and public health.
Roald has had a leading role in the development world, leading software for genomic research and will open the bioinformatic world for the audience and its possibilities and importance for both society and the industry.
As one of the initiators of the FarGen project that aims to sequence the genomes of the whole population of the Faroe Islands and as an CIFS health expert Bogi, will set the future stage of genomics and health framed with the holistic FarGen vision – of making genomics usable.
Helena Kääriäinen, MD, PhD, is a Research Professor at National Institute for Health and Welfare, Finland. She is a specialist in medical genetics and an expert in biobanking, rare diseases and genetic counselling. Earlier she has worked as Professor of Medical Genetics in Helsinki and Turku Universities and several years in The Family Federation of Finland which is a non-profit organisation providing counselling, education and information in medical genetics. She has had active roles in the European Society of Human Genetics (ESHG) including its Public and Professional Policy Committee (PPPC) since 2001. She has been the President of ESHG and, at present, she is the President of International Federation of Human Genetics Societies. She was a WP leader in EuroGentest NoE and Unit leader in EuGT2; in these projects her main task was to create guidelines and tools for improving the quality of genetic counselling in Europe. She is the Finnish representative in EU CEGRD group (former EUCERD Committee) and in the Board of Member States - ERN . She was the Vice Chair of the Finnish National Committee on Medical Research Ethics 1999-2015. Her research interests are rare diseases, hereditary cancer, genetic testing and counselling.
Dr. Carneiro leads the scientific software platforms at Verily Life Sciences. He has contributed to major advances in DNA sequencing analysis with compression algorithms, statistical methods, heterogeneous compute optimizations and a systematic approach to the institute's computational development, distribution and support. He joined Verily in January 2015 after leading the Computational Technology Development group at the Broad Institute for five years, where his team was responsible for the evaluation of new sequencing technologies and has provided several methods and tools to handle new data types in the world of next generation sequencing through the Genome Analysis Toolkit (GATK).
Dr. Carneiro has completed his Ph.D. in computational biology from Harvard University in 2010. He holds two championships in the International Collegiate Programming Contest organized by the Association for Computing Machinery (ACM) in 2002 and 2003, respectively, a Programming Excellence Award from the ACM Upsilon Pi Epsilon Society in 2003, and two teaching excellence awards from Harvard University in 2008 and 2010.
Head of Research, UNIT of Diet, Genes and Environment at the Danish Cancer Society Research Center. Adjunct Professor at University of Copenhagen. MD 1983, PhD in Nutritional Epidemiology 1992, DrMedSci 2008, thesis: “Lifestyle risk factors for breast cancer”.
Cancer prevention and cancer prognosis has been the focus of my research for more than 25 years. Diet, lifestyle and genetic interaction has been the main research area. I have established and exploited the Diet, Cancer and Health study, a prospective cohort study of 57.000 participants and is also the PI of the new Diet, Cancer and Health – Next Generation study, which will include additional 50.000 children and grandchildren from the original cohort, ending data collection in 2018. I am the author or coauthor of more than 900 scientific publications, and was recently listed at the Thomson Reuters Highly Cited List, 2015, which include the 3126 top 1% most cited researchers in the world, including 26 Danish researchers within 22 different research disciplines.
Teddy Hebo Larsen, Organiser
Teddy is an associated partner at the Copenhagen Institute for Futures Studies. He is a Doctor of Veterinary Medicine (DVM) and has spent more than 20 years in various positions in the US pharmaceutical company, Eli Lilly & Company. Teddy was the managing director of Eli Lilly Denmark and Norway for many years and his last position in Lilly from 2005 to 2009 was as the Director of Cultural Transformation for Eli Lilly Europe. In 2009 he joined the Danish pharmaceutical company H. Lundbeck A/S as the Senior Vice President for Corporate Human Resources. For years, Teddy Hebo Larsen was the first vice-president and later the president of The Danish Association of the Pharmaceutical Industry (LIF). Teddy left the Corporate world in January 2014 where he became a Partner of the Danish MedTech company Re5.
Copenhagen Institute for Futures Studies (Instituttet for Fremtidsforskning)
Odense Congress Center
October 4th, 2016
Teddy Hebo Larsen
Early: 2499 DKK (excl. VAT)
Regular: 2999 DKK (excl. VAT)
Late: 3499 DKK (excl. VAT)
Groups of two or more eligible for discount – see registration page here.
*Coffee, snacks, and lunch included
The conference has limited seats