Scientific Programme

Note: The programme below is accurate as of January 2017 and is subject to change.

 

Time Sunday, 5 February 2017
12:00-13:00 REGISTRATION
13:00-13:15 OPENING CEREMONY
13:15-14:00 OPENING PLENARY: MICHAEL STRATTON, UK
Talk title: “Signatures of mutations in cancer”
CHAIR: STYLIANOS ANTONARAKIS
14:00-15:30 SYMPOSIUM 1 : CLINICAL GENETICS
CHAIR:
Sanghyuk Lee, Korea

Stefan Mundlos, Germany
“Pathology of Structural Variations is Determined by Integrity of Topological Chromatin Domains”

Nazneen Rahman, UK
“Making genetic medicine work – the promise, the progress, the pitfalls”

Heidi Rehm, USA
“Deciphering the Genome: Community Driven Approaches”

SYMPOSIUM 2: ANCIENT DNA & POPULATION GENETICS
CHAIR:
Jaume Bertranpetit, Spain

Johannes Krause, Germany
“The genetic history of Europe: Migration and adaptation in prehistory”

Joshua Akey, USA
“Excavating archaic hominin DNA from the genomes of modern humans”

Tomas Marques, Spain
“Great apes genome diversity and population history”

15:30-16:00 COFFEE BREAK
16:00-18:00 ORAL PRESENTATIONS
CHAIR:
Heidi Rehm, USA

Wanda Lattanzi, Università Cattolica del Sacro Cuore, Italy
THE RUNX2 MASTER GENE IN CRANIOSYNOSTOSIS: IMPLICATION IN SKULL EVOLUTION AND DYSMORPHOGENESIS.

Adrià Aterido, VHIR, Spain
GENOME-WIDE PATHWAY ANALYSIS OF CLINICAL PHENOTYPES IN SYSTEMIC LUPUS ERYTHEMATOSUS.

Orietta Beltran, Universidad Militar Nueva Granada, Colombia
BARDET BIEDL SYNDROME WITH POLYDACTYLY, RETINITIS PIGMENTOSA AND TRUNCAL OBESITY OF UNKNOWN ETIOLOGY

Muhammad Ansar, University of Geneva Medical School, Switzerland
GENOME ANALYSIS OF CONSANGUINEOUS FAMILIES TO IDENTIFY THE MOLECULAR CAUSE OF HEREDITARY BLINDNESS

Edward Mountjoy, University of Bristol, UK
A GENOME-WIDE ASSOCIATION STUDY OF VISUAL ACUITY IN CHILDREN

Servi Stevens, Maastricht University, Netherlands
TRUNCATING DE NOVO MUTATIONS IN THE KRÜPPEL-TYPE ZINC-FINGER GENE ZNF148 IN PATIENTS WITH CORPUS CALLOSUM DEFECTS, DEVELOPMENTAL DELAY, SHORT STATURE AND DYSMORPHISMS

Periklis Makrythanasis, University of Geneva Medical School, Switzerland
THE IDENTIFICATION OF LIKELY NON-PATHOGENIC LOSS-OF-FUNCTION VARIANTS IN CONSANGUINEOUS FAMILIES

Catherine Brownstein, Boston Children’s Hospital, US
THE CLARITY UNDIAGNOSED CHALLENGE: A COLLECTIVE EFFORT TO DEVELOP BEST PRACTICES FOR CLINICAL GENOME SEQUENCING

ORAL PRESENTATIONS
CHAIR:
Ada Hamosh, USA

Irina Voineagu, University of New South Wales, Australia
THE NEURONAL SPLICING FACTOR RBFOX1 REGULATES CIRCULAR RNA FORMATION IN THE HUMAN BRAIN

Diego Garrido Martín, Centre for Genomic Regulation (CRG), Spain
IDENTIFICATION AND ANALYSIS OF SPLICING QUANTITATIVE TRAIT LOCI

Vladimir B. Seplyarskiy, Harvard Medical School, US
REPLICATION AND TRANSCRIPTION DRIVEN MUTATIONAL ASYMMETRIES IN HUMAN GERMLINE ARE CAUSED BY SIMILAR PROCESSES

Young Seok Ju, KAIST, South Korea
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

Gian Andri Thun, CNAG-CRG, Spain
INSIGHTS INTO REGULATORY VARIATION OF GENE EXPRESSION IN BRONCHIAL BRUSHINGS OF INDIVIDUALS WITH AND WITHOUT AIRWAY OBSTRUCTION

Georgios Stamoulis, University of Geneva Medical School, Switzerland
SINGLE CELL ALLELE SPECIFIC EXPRESSION (ASE) IN T21 AND COMMON TRISOMIES: A NOVEL APPROACH TO UNDERSTAND DOWN SYNDROME AND GENE DOSAGE EFFECTS IN ANEUPLOIDIES

Karen B. Avraham, Tel Aviv University, Israel
TRANSCRIPTOMIC AND PROTEOMIC EXPRESSION PROFILES OF NON-PROLIFERATING TISSUES REVEAL CHANGES IN PROTEIN LEVELS ARE REDUCED RELATIVE TO MRNA

Tamra Lysaght, National University of Singapore, Singapore
ETHICAL ISSUES OF CRISPR TECHNOLOGY AND GENE EDITING THROUGH THE LENS OF SOLIDARITY

Plenary Speaker

 

Mike Stratton Sir Mike STRATTON
Wellcome Genome Campus, UK

Mike Stratton is Director of the Wellcome Trust Sanger Institute. His primary research interests have been in the genetics of cancer. His early research focused on inherited susceptibility. He mapped and identified the major high risk breast cancer susceptibility gene BRCA2 and subsequently a series of moderate risk breast cancer and other cancer susceptibility genes.

In 2000, he initiated the Cancer Genome Project at the Wellcome Trust Sanger Institute which conducts systematic genome-wide searches for somatic mutations in human cancer. Through these studies, he discovered somatic mutations of the BRAF gene in malignant melanoma and several other mutated cancer genes in lung, renal, breast and other cancers. He has described the basic patterns of somatic mutation in cancer genomes revealing underlying DNA mutational and repair processes.

He is a Fellow of the Royal Society (FRS) and was Knighted by the Queen in 2013.

 

Symposium Speakers

 

  1. Clinical Genetics
    Stefan Mundlos Stefan MUNDLOS
    Max Planck Institute, GERMANY

    Stefan Mundlos is currently Professor and Chairman of the Institute for Medical and Human Genetics at the Charité, Berlin’s Medical School, and head of the research group Development & Disease at the Max Planck Institute for Molecular Genetics in Berlin. He received his MD (1985) and Dr. med. (1987) from the University of Heidelberg, Germany.

    After a specialization in Pediatrics in the University Hospital of Mainz, Germany, he moved to Melbourne to work and train at the Murdoch Institute, followed by a research period at Harvard Medical School in the Dept. of Cell Biology with Prof. Bjorn Olsen. In 1996 he moved back to the University of Mainz and became appointed Professor at the Institute for Human Genetics in Heidelberg in 1999. In 2000 he moved to Berlin to his present position. His lifelong interest is in genotype-phenotype correlations and the molecular basis of Mendelian disorders with a particular focus on congenital malformations and skeletal disease. He was awarded the Adalbert-Czerny Award (1997), Pierre Maroteaux award (2009), will receive the European Society of Human Genetics Award in 2016, and was elected to the Deutsche Akademie für Naturforscher ‚Leopoldina’ (2006), and the Berlin-Brandenburger Akademie der Wissenschaften (2014).

     

    Nazneen Rahman Nazneen RAHMAN
    The Institute of Cancer Research, UK

    Professor Nazneen Rahman is Head of the Division of Genetics and Epidemiology at The Institute of Cancer Research (ICR), London, Head of the Cancer Genetics Unit at The Royal Marsden NHS Foundation Trust, and Director of the TGLclinical gene testing laboratory at the ICR. She qualified in medicine from Oxford University in 1991, gained her CCST in Medical Genetics in 2001 and completed a PhD in Molecular Genetics in 1999.

    Her research focuses on cancer predisposition genes, in which she is an internationally-recognised expert.
    Rahman is currently leading two innovative translational research programmes. The Mainstreaming cancer genetics (MCG) programme is undertaking the work required to make cancer predisposition gene testing part of routine cancer care. The Transforming Genetic Medicine Initiative (TGMI) is building the processes required to deliver the promise of genetic medicine.

    Rahman has a strong commitment to open science and science communication and has garnered numerous awards, including a CBE in 2016 Queen’s birthday honours.

     

    Heidi Rehm Heidi Rehm
    Partners Laboratory for Molecular Medicine, US

    Heidi L. Rehm, PhD, FACMG began building the CLIA-certified Laboratory for Molecular Medicine in 2001 after completing her graduate degree in Genetics from Harvard University and her postdoctoral and fellowship training at Harvard Medical School. The lab focuses on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The laboratory has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The lab offers whole genome and exome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics and Genomics. Dr. Rehm is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and clinical annotations of genetic variants.

     

  2. Ancient DNA
    Johannes Krause Johannes KRAUSE
    Max Planck Institute, GERMANY

    Johannes Krause was born 1980 in Leinefelde, Germany. In 2008, he received his Ph.D. in Genetics at the University of Leipzig.

    Subsequently, he worked at the Max Planck Institute for Evolutionary Anthropology in Leipzig, before he was appointed Professor for Archeology and Paleogenetics at the University of Tuebingen. In 2014, he became one of the founding directors of the Max Planck Institute for the Science of Human History in Jena, Germany, and he is the head of the Department of Archaeogenetics. Since 2015, he is also honorary professor for Archaeo- and Palaeogentics at the University of Tuebingen.

    Johannes Krause focuses on the analysis of very old DNA using DNA sequencing. His research interests include pathogens from historical epidemics, as well as human evolution. He contributed to the deciphering of the genetic heritage of Neanderthals, and while working at the Max Planck Institute for Evolutionary Anthropology in Leipzig, he discovered the first genetic evidence of the Denisovans, a stone-age primeval Homo species from Siberia. With his work on the evolution of historical infectious diseases, he was able to demonstrate that most of today’s plague pathogen originated in the Middle Ages.

     

    Joshua Akey Joshua AKEY
    University of Washington, USA

    Joshua Akey obtained his Ph.D. in population genetics at the University of Texas-Houston under the supervision of Li Jin, and continued his training with Leonid Kruglyak at the Fred Hutchinson Cancer Research Center. He is currently a Professor in the Department of Genome Sciences at the University of Washington. His laboratory is interested in understanding the evolutionary forces that shape patterns of genomic variation within and between species and the genetic architecture and evolution of complex, quantitative, and high-dimensional molecular phenotypes. His work has been recognized by several awards including the Alfred P. Sloan Research Fellowship in computational biology and the William King medal for his work in archaic hominin genomics.

     

    Tomas Marques Tomas Marques
    UPF, Spain

    Dr. Marques-Bonet is the Principal Investigator of the group “Comparative Genomics” as a part of the Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra) and also head of the comparative genomics group at CNAG-CRG (Centro Nacional de Analisis Genomico). He is an EMBO Young Investigator and was awarded grants from the European Research Council. His group is now focused on characterizing human specific genomics features, including comparative epigenetics and gene regulation, or the study of the demographic histories in humans and great apes. With a total of more than 80 peer-reviewed publications, he has published as a corresponding author in journals such as Science, Nature, Genome Research, Plos Genetics, NAR or Genome Biology.

     

Time Monday, 6 February 2017
0900-1030 ANALYZING THE HUGO PRESIDENT’S GENOME
Sequencing and analysis kindly provided by Dr. Jeongsun Seo, Professor of Seoul National University

Panelists:
ARNOLD MUNNICH, FRANCE
BARTHA KNOPPERS, CANADA
DAVID VALLE, USA
EDISON LIU, USA

Note: This session has received support from industry.

1030-1100 COFFEE BREAK
1100-1300 SYMPOSIUM 3: CLOUD COMPUTING & DATA SHARING
CHAIR:
Michael Snyder, USA

Peter Robinson, USA
“Phenotype-Driven Interpretation of Genomic Variants”

Gustavo Stolovitzky, USA
“Crowdsourcing on the Cloud: Sharing Data using Community Challenges”

Abstract presenter: Ada Hamosh, Johns Hopkins University, US
UPDATE ON THE MATCHMAKER EXCHANGE, A GLOBAL EFFORT TO IDENTIFY NOVEL DISEASE GENES

Abstract presenter: Steven Laurie, Centro Nacional de Análisis Genómico (CNAG-CRG), Spain
RD-CONNECT: AN INTEGRATED PLATFORM TO ACCELERATE RARE DISEASE RESEARCH, AND FACILITATE DATA SHARING THROUGH MEASURES SUCH AS THE GA4GH BEACON NETWORK AND GA4GH/IRDIRC MATCHMAKER EXCHANGE

Abstract presenter: Nara Lygia Sobreira, Johns Hopkins University, US
GENEMATCHER, A DATA SHARING TOOL CONNECTING CLINICIANS, RESEARCHERS AND PATIENTS AROUND THE WORLD

SYMPOSIUM 4: GENOMIC THERAPY
CHAIR:
Joan Comella, Spain

Peter Humphries, Ireland
“Glaucoma: targeting experimental genetic and molecular therapeutics to the conventional aqueous outflow pathway”

Vic Myer, USA
“Advancing the CRISPR/Cas9 Technology Platform for Therapeutic Applications”

Abstract presenter: Andrée Delahaye-Duriez, Inserm France, France
RARE AND COMMON EPILEPSIES CONVERGE ON A SHARED GENE REGULATORY NETWORK PROVIDING OPPORTUNITIES FOR NOVEL ANTIEPILEPTIC DRUG DISCOVERY

Abstract presenter: Sung-Yup Cho, Ewha Womans University Mokdong Hospital, South Korea
A NOVEL COMBINATION TREATMENT TARGETING BCL2L1 AND MCL1 FOR KRAS/BRAF-MUTATED AND BCL2L1-AMPLIFIED COLORECTAL CANCERS

Abstract presenter: Yun Rose Li, Children’s Hospital of Philadelphia, US
ROLE OF METABOTROPIC GLUTAMATE RECEPTORS (MGLURS) IN THE ETIOLOGY AND TREATMENT OF ADHD

1300-1400 BREAK & VISIT OF THE EXHIBITION
1400-1600 SYMPOSIUM 5: DISTINGUISHED SPANISH SPEAKERS SESSION
CHAIR:
Elias Campo, Spain

Iñaki Martins-Subero, Spain
“Decoding the epigenome of normal and neoplastic B cells: from biological insights to clinical applications”

Nuria Lopez-Bigas, Spain
“Tumor genomes shed light into somatic mutational processes and cancer vulnerabilities”

Joan Seoane, Spain
“Evolving intratumor genomic heterogeneity in brain tumors”

Marc Marti-Renom, Spain
“Structure determination of genomes and genomic domains by satisfaction of spatial restraints”

SYMPOSIUM 6: OECD SPONSORED SESSION
CHAIR:
Juergen Reichardt, Australia

Check out the details in Programme Highlights!

Peter Meier-Abt, Switzerland

Chas Bountra, England

Mark Bale, England

Richard Johnson, USA

Marie-Valentine Florin, Switzerland

Isabella Beretta, Switzerland

David Winickoff, USA

Francesc Gòdia, Spain

1600-1630 COFFEE BREAK
1630-1830 ORAL PRESENTATIONS
CHAIR:
Karen Avraham, Israel

Begoña Dobon, Institute of Evolutionary Biology, Spain
NETWORK TOPOLOGY AFFECTS THE EVOLUTION OF ENZYME-CODING GENES

David Radke, Harvard University, US
PLEIOTROPIC NONCODING REGULATORY ELEMENTS ARE UNDER PURIFYING NATURAL SELECTION

Shmuel Pietrokovski, WEIZMANN INSTITUTE OF SCIENCE, Israel
THE LANDSCAPE OF SEX-DIFFERENTIAL TRANSCRIPTOME AND ITS CONSEQUENT SELECTION IN HUMAN ADULTS

Yolanda Espinosa-Parrilla, UNIVERSITAT POMPEU FABRA, Spain
MIR938 ASSOCIATES WITH GASTRIC CANCER IN EUROPEANS THROUGH AFFECTING THE REGULATION OF CXCL12 IN AN ALLELE SPECIFIC FASHION

Marcos Díaz-Gay, IDIBAPS, Spain
INTEGRATED ANALYSIS OF GERMLINE AND TUMOR DNA IDENTIFIES NEW CANDIDATE GENES INVOLVED IN FAMILIAL COLORECTAL CANCER

Victor D Martinez, British Columbia Cancer Research Centre, Canada
ANALYSIS OF PIWI-INTERACTING RNA TRANSCRIPTOMES REVEAL CANCER TYPE-SPECIFICITY AND SIGNATURES PREDICTING LUNG TUMOR BEHAVIOR

Yozen Hernandez, Boston University, US
HIDDEN VARIABILITY IN THE HUMAN GENOME: A COMPUTATIONAL ANALYSIS OF THE VARIABILITY OF POLYMORPHIC MINISATELLITE LOCI

ORAL PRESENTATIONS
CHAIR:
Charles Lee, USA

Natalia Pervjakova, Estonian Genome Center, Estonia
NMR METABOLITES ASSOCIATION ANALYSIS TO DETERMINE PARENT OF ORIGIN EFFECTS

Chung-Chau Hon, RIKEN, Japan
AN ATLAS OF HUMAN LONG NON-CODING RNAS REVEALS THEIR HETEROGENEITY AND EVIDENCE OF THEIR WIDESPREAD FUNCTION

Maiko Narahara, McGill University, Canada
TRANSCRIPTOMIC ANALYSIS OF ANTIBODY RESPONSES TO SEASONAL INFLUENZA VACCINE REVEALS PREDICTIVE GENE SIGNATURES AND POTENTIAL KEY TRANSCRIPTION FACTORS.

Naotoshi Nakamura, Kyoto University, Japan
ANALYZING INDIVIDUAL HETEROGENEITY IN THE IMMUNE RESPONSE TO SEASONAL INFLUENZA VACCINATION

Christoph Nowak, Uppsala University, Sweden
DYNAMIC POSTPRANDIAL PLASMA METABOLOMICS AND SUBSEQUENT BIOINFORMATICS AND FUNCTIONAL ANALYSES IDENTIFY SLC22A4 AS A POTENTIAL CONTRIBUTOR TO INSULIN RESISTANCE

Julien Lagarde, CRG, Spain
HIGH-THROUGHPUT MANUAL-QUALITY ANNOTATION OF FULL-LENGTH LONG NONCODING RNAS WITH CAPTURE LONG-READ SEQUENCING (CLS)

Altuna Akalin, Max Delbrück Center, Germany
HOT OR NOT: EXAMINING THE BASIS OF HIGH-OCCUPANCY TARGET REGIONS

2000-2200 CONFERENCE DINNER (TICKETED EVENT)

Panel Discussion ‘Analyzing The President’s Genome’

 

Arnold Munnich Arnold MUNNICH
Hôpital des Enfants-Malades, France

Since 1980, Arnold Munnich has made every efforts to conciliate the clinical and molecular approaches of genetic diseases in children. His efforts have resulted in the founding of the Department of Genetics, Hôpital des Enfants-Malades, Paris, which brings together i) a Clinical Research INSERM unit, dedicated to the mapping and identification of genes causing developmental and neurogenetic diseases in children, ii) the Medical Genetic Clinic of Assistance Publique, Hôpitaux de Paris.

He has recently shown that Friedreich ataxia results from multiple iron-sulphur protein injury caused by iron overload in mitochondria. Based on this observation, he devised a novel therapeutic approach using short-chain quinones (Idebenone) to protect iron sulphur centers from oxidative stress. This treatment, now given to all novel cases, cures cardiomyopathy in 85% of patients. He has also identified a novel inborn error of quinone synthesis resulting in multiple respiratory chain deficiency and caused by a point mutation in a polyprenyl transferase gene. Most importantly, children are cured by oral quinone administration.

 

Bartha Knoppers Bartha KNOPPERS
McGill University, Canada

Bartha Maria Knoppers is known internationally as a leading expert on the ethical and legal aspects of human genetics, genomics and biotechnology.

Dr. Knoppers served as chair of the International Ethics Committee of the Human Genome Organization from 1996 to 2004, and was a member of the International Bioethics Committee of UNESCO that drafted the Universal Declaration on the Human Genome and Human Rights. In 2013, she became chair of the Ethics and Regulatory Working Group of the Global Alliance for Genomics and Health. She is also the Canada Research Chair in Law and Medicine and a professor at McGill University.

She is the founder of the International Consortium – Public Population Project in Genomics (P3G), and of the Centre of Genomics and Policy at McGill University. She specializes in international policy making in the life sciences, with particular expertise in setting up research consortia and attendant needs in consent, confidentiality and IP.

Dr. Knoppers holds numerous doctor of laws honorary degrees and is both an Officer of the Order of Canada and of the Ordre national du Québec
.

 

David Valle David VALLE
Johns Hopkins University, USA

Dr. David Valle is the director of the Institute of Genetic Medicine and professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine. He is board-certified by the American Board of Medical Genetics in clinical molecular genetics, clinical biochemical genetics, clinical genetics and pediatrics.

Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty.

He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia.

Dr. Valle was the 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics.

 

Edison Liu Edison Liu
The Jackson Laboratory, USA

Dr. Edison Liu is the president and CEO of The Jackson Laboratory. Dr. Liu joins the Laboratory from the Genome Institute of Singapore. As founding executive director, Dr. Liu built the GIS from a staff of three into a major research institute of 27 laboratory groups and a staff of 270, with faculty in functional genomics, computational biology, population genetics and genome-to systems biology. Before moving to Singapore in 2001, he was the scientific director of the National Cancer Institute’s Division of Clinical Sciences in Bethesda, Md.

Born in Hong Kong in 1952, Edison Liu obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University’s Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, first in a haematology fellowship at Moffitt Hospital and then as a postdoctoral fellow in the laboratory of Nobel laureate J. Michael Bishop. From 1987 to 1996 he was at the University of North Carolina at Chapel Hill, where he rose to director of the UNC Lineberger Comprehensive Cancer Centre’s Specialized Program of Research Excellence in Breast Cancer, the director of the Laboratory of Molecular Epidemiology at UNC’s School of Public Health, chief of medical genetics, and chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB.

 

Symposium Speakers

 

  1. Cloud Computing & Bioinformatics


    Gustavo Stolovitzky Gustavo STOLOVITZKY
    IBM, USA

    Dr. Gustavo Stolovitzky is Director of the Translational Systems Biology and Nano-Biotechnology Program at IBM Research, and an adjunct Professor at Columbia University and at the Icahn School of Medicine at Mount Sinai. Dr. Stolovitzky is a recognized leader in the field of systems biology, where he has pioneered the use of crowdsourcing as a tool for scientific research and of the Wisdom of Crowds as a robust methodology for predictive modeling. He is the founder and Chair of the DREAM Challenges, published over 125 papers and has more than 30 issued patents in the fields of crowdsourcing, high-throughput biological-data analysis, reverse engineering biological circuits, the mathematical modeling of biological processes and nano-biotechnology for sequencing and diagnostics.

    Dr. Stolovitzky joined IBM Research in 1998. Previously he was a postdoctoral researcher at the Center for Studies in Physics and Biology at The Rockefeller University and he received his PhD in Mechanical Engineering from Yale University (1994). Dr. Stolovitzky received Yale University’s Henry Prentiss Becton Prize award (1994), the HENAAC’s Pioneer Award for Great Minds in STEM (2013), the World Technology Awards (2013), and was distinguished as a Master Inventor in IBM Research (2013). Dr. Stolovitzky has been elected Fellow of the NY Academy of Sciences, Fellow of the World Technology Network, Fellow of the American Physical Society and Fellow of the American Association for the Advancement of Sciences.

     

  2. Genomic Therapy

    Peter Humphries Peter Humphries
    Trinity College Dublin, Ireland

    Pete trained as a molecular geneticist and over the last three decades has had a major interest in degenerative diseases of the retina. He is a graduate of Trinity College Dublin, where he also undertook post graduate studies [1967-1974] and was elected Fellow of that University in 1988 and Professor of Medical Molecular Genetics in 1991. His team localized the first genes for autosomal dominant retinitis pigmentosa [these genes encoding rhodopsin and RDS-peripherin], the most prevalent cause of registered blindness among those of working age. Current interests lie in the molecular pathology both of hereditary and multifactorial diseases of the retina, including retinitis pigmentosa, age-related macular degeneration and glaucoma. Pete was awarded the Alcon Prize for Outstanding Contributions to Vision Research [1993] for his work on the genetics of blindness.

     

    Vic Myer Vic MYER
    EDITAS, USA

    Vic is the Chief Technology Officer at Editas Medicine and is responsible for delivering enabling technologies to bring genomic medicines to the clinic. Prior to joining EDITAS, Vic served as executive director and Cambridge site head for the developmental and molecular pathways department at the Novartis Institutes for Biomedical Research Incorporated (NIBR), where he also served as a research investigator, led the high-throughput biology team and oversaw the target discovery technologies platform. Vic was also a founding scientist and group leader at Akceli, Inc., a venture-backed systems-biology company, served as senior scientist for Millennium Pharmaceuticals and held various roles at Corning, Inc. Vic received his B.S. in biology and biochemistry from Cornell University and his Ph.D. in molecular biophysics and biochemistry from Yale University.

     

  3. Local Spanish Session
    Nuria Lopez Bigas Nuria Lopez BIGAS
    University Pompeu Fabra, SPAIN

    Nuria Lopez Bigas is an ICREA Research Professor at the Institute for Research in Biomedicine and associate professor at the University Pompeu Fabra. She leads the Biomedical Genomics lab (http://bg.upf.edu).

    She has a PhD in Biology from the University of Barcelona and has expertise in Medical Genetics and in Computational Biology and Bioinformatics. During her PhD work, she studied the molecular causes of hereditary deafness and then moved to the European Bioinformatics Institute in Hinxton (Cambridge, UK) to work on Computational Genomics.

    Her research is focused on the identification of cancer driver mutations, genes and pathways across tumor types and in the study of their targeted opportunities.

    Among the most important achievements obtained by Lopez-Bigas’ lab are the development of pioneer methods to identify driver genes (Oncodrive methods), the creation of IntOGen (http://www.intogen.org), a discovery tool for cancer research, the obtention of a landscape of driver events and their therapeutic opportunities across close to 7000 tumours of 28 different cancer types (Rubio-Perez et al, 2015), and the discovery that protein-bound DNA impairs nucleotide excision repair (Radhakrishnan et al., 2016).

     

    Inaki Martins Subero Iñaki Martins-Subero
    Fundacio Clinic per a la Recerca Biomedica (FCRB), SPAIN

    Dr. Martin-Subero graduated from the University of Navarra (Spain) with a degree in Biochemistry. In 2001, he completed a PhD with honours as a joint effort between the University of Navarra and the Christian-Albrechts University of Kiel (Germany). He continued his postdoctoral training at the Christian-Albrechts University and in 2005 he became faculty member. Upon returning to Spain in 2009, he started to coordinate a research group on epigenomics at the University of Barcelona. In 2016, he was recruited by the Fundacio Clinic per a la Recerca Biomedica in Barcelona, where he currently leads a group of 8 researchers. He has published 136 peer-reviewed articles with over 6000 citations in Scopus and an H index of 42. His most recent publications include Nature (2015), Nature Genetics (2012, 2015a, 2015b), Nature Biotechnology (2016), Nature Cell Biology (2015), Cancer Cell (2016), Cell Reports (2015, 2016), PNAS (2013) and Genome Research (2014, 2015).

    Dr. Martin-Subero’s research is focused on the application of advanced technologies to characterize epigenomic marks in normal and neoplastic lymphoid cells. His group has reported the first epigenomes during normal B cell differentiation as well as in a variety of B-cell neoplasms, including chronic lymphocytic leukemia, mantle cell lymphoma and multiple myeloma.

    Dr. Martin-Subero is member of large international endeavours such as the International Cancer Genome Consortium and International Human Epigenome Consortium, and his research is funded by the European Union, the Worldwide Cancer Research, the European Association of Hematology and the Fundacio La Marato de TV3.

     

    Joan Seoane Joan Seoane
    Vall D’Hebron Institue of Oncology (VHIO), SPAIN

    In 1998, Joan Seoane obtained his PhD in Biochemistry and Molecular Biology from the University of Barcelona. In 1993, he obtained his BSc degree in Chemistry and joined the Memorial Sloan-Kettering Cancer Center (MSKCC), New York, as a post-doctoral fellow in 1998. From 1998 to 2001, Joan worked as a Research Fellow and then from 2001 to 2003 as a Research Associate in MSKCC. In 2004, he was appointed ICREA Research Professor and established his own Group pursuing an independent research project in the Medical Oncology Research programme of the Vall d’Hebron Hospital Research Institute. In 2007, he became a member of the Young Investigator EMBO programme and was the recipient of an European Research Council grant. In 2008, he became Group Leader of the Vall d’Hebron Institute of Oncology (VHIO) and, in 2011, Joan became Director of the Translational Research program of VHIO.

     

    Marc A. Marti-Renom Marc A. Marti-Renom
    Centre Nacional d’Anàlisi Genòmica – Centre de Regulació Genòmica (CNAG-CRG), SPAIN

    Dr. Marti-Renom obtained a Ph.D. in Biophysics from the UAB where he worked on protein folding under the supervision of Professors B. Oliva, F.X. Avilés and M. Karplus (Nobel Laureate in 2013). After that, he went to the US for a postdoctoral training on protein structure modeling at the Sali Lab (Rockefeller University) as a Burroughs Wellcome Fund fellow. Later on, Dr. Marti-Renom was appointed Assistant Adjunct Professor at UCSF. Between 2006 and 2011, he headed the Structural Genomics Group at the CIPF in Valencia (Spain). Since October 2013, Dr. Marti-Renom has been an ICREA Research Professor and leads the Structural Genomics Group at the National Center for Genomic Analysis (CNAG) and the Centre for Genomic Regulation (CRG), both in Barcelona. His group employs the laws of physics and the rules of evolution to develop and apply computational methods for predicting the 3D structures of macromolecules and their complexes.

     

Time Tuesday, 7 February 2017
0800-0900 MEET THE PROFESSORS
Clinical Genetics – Ada Hamosh, USA
Complex Human Genetics – Stylianos Antonarakis, Switzerland
Genomic Technologies – Mike Snyder, USA & Piero Carninci, Japan
Cancer Genomics – Ed Liu, USA
0900-1030 PLENARY LECTURE 2: NALDINI LUIGI, ITALY
“Genetic Engineering of Hematopoiesis to Treat Inherited Disease and Cancer”

PLENARY LECTURE 3: RICHARD GIBBS, USA
“Precision Medical Research”
CHAIR: Piero Carninci, Japan

1030-1100 COFFEE BREAK
1100-1130 CHEN AWARD FOR DISTINGUISHED ACHIEVEMENT LECTURE & AWARD CEREMONY
AWARDEE:
NARRY KIM, SOUTH KOREA
“The making of a microRNA”
CHAIR: Charles Lee, USA
1130-1200 AFRICAN PRIZE LECTURE & AWARD CEREMONY
AWARDEE:
SAMIA TEMTAMY, EGYPT
“Development of Human Genetics and Genome Research at the National Research Centre,Egypt:A story of 50 years.”
CHAIR: Stylianos Antonarakis, Switzerland
1200-1300 BREAK & VISIT OF THE EXHIBITION
1300-1500 SYMPOSIUM 7: CANCER EVOLUTION
CHAIR:
Hiroyuki Aburatani, Japan

Charles Swanton, UK
“TRACERx- TRAcking Lung Cancer Evolution through space and time”

Ian Campbell, Australia
“Defining the origin of invasive breast and ovarian cancers”

Abstract presenter: Mariia Andrianova, IITP RAS, Russia
CHANGES IN MUTATIONAL PROCESSES AND PATTERNS OF MUTATIONS DURING CANCER DEVELOPMENT

Abstract presenter: Miranda Danielle Stobbe, CNAG-CRG, Spain
EXPLORING THE NON-RANDOMNESS OF SOMATIC MUTATIONS IN CANCER GENOMES

SYMPOSIUM 8: BREAKTHROUGH OMICS
CHAIR:
Manel Esteller, Spain

Mike Snyder, USA
“Using Omics and Big Data to Manage Health and Disease”

Ben Lehner, Spain
“Influences on phenotypic variation in tumors and animals:  rare variants, somatic mutations and epigenetic inheritance”

Abstract presenter: Marco Garieri, University of Geneva, Switzerland
X INACTIVATION REVISITED USING SINGLE CELL TRANSCRIPTOMES

Jenny Ekholm, Pacific Biosciences, US
SCREENING FOR CAUSATIVE STRUCTURAL VARIANTS IN NEUROLOGICAL AND NEUROMUSCULAR DISEASE USING LONG-READ SEQUENCING

Marta Puig, Universitat Autònoma de Barcelona
DROPLET DIGITAL PCR (DDPCR)-BASED VALIDATION AND GENOTYPING OF HUMAN INVERSIONS

1500-1515 Closing Ceremony
1600-1900 COUNCIL MEMBERS MEETING (INVITATION ONLY)

Meet the Professors

 

Ada Hamosh Ada Hamosh
Johns Hopkins, USA

After completing medical school at Georgetown University, residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Institute of Genetic Medicine (IGM) of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, and has been the Scientific Director of the Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and over the past several years, has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics.

 

Stylianos Antonarakis Stylianos Antonarakis
University of Geneva Medical School, Switzerland

Stylianos E. Antonarakis is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and the founding director of iGE3 (institute of Genetics and Genomics of Geneva). He received his MD (1975) and DSc (1982) from the University of Athens Medical School, and after a specialization in Pediatrics in the University Hospital, Athens Greece, moved to Baltimore, Maryland to the program of Medical Genetics at the Johns Hopkins University School of Medicine with Haig H. Kazazian and Victor McKusick (1980-1983). He joined the faculty of the Johns Hopkins University in 1983 and rose to full professor of Pediatric Genetics, Biology and Medicine in 1990.

In 1992, he moved to Geneva, Switzerland to chair Genetic Medicine in the University of Geneva. His research work includes the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21. His laboratory participated in the human genome sequence and functional analysis, particularly on chromosome 21. He has published extensively (more than 620 well-cited papers) in the scientific literature, and is co-editor of the current edition of the classic textbook “Genetics in Medicine”; he is listed as one of the highly cited scientists by the ISI institute (more than 40,000 citations; h-index 99). He was the President of the European Society of Human Genetics (2001-2002), member of the HUGO Council and President Elect of HUGO for 2013-2016, foreign member of the Academy of Athens (2003), member of EMBO (2006). He was awarded the Society of Pediatric Research Young Investigator Award (1984), International Jerome Lejeune Prize (2004), the European Society of Human Genetics Award (2005), and was elected to the Society of Scholars of the Johns Hopkins University (2006), and the American Academy of Physicians (2010). He was awarded the Commander of the Order of Phoenix medal from the Hellenic Democracy (2007).

His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.

 

Piero Carninci Piero Carninci
RIKEN, Japan

Born and Educated in Italy, he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995, he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.

He moved to RIKEN in in 1995 and became tenured researcher in 1997. He has been developing technologies to capture full-length cDNAs, which were used for the construction of the Fantom projects. Between 2008 and 2013, he was a Team and Unit Leader and a Deputy Project Director at the RIKEN Omics Science Center in Yokohama. He has developed technologies to analyze the transcribed part of the genome (transcriptome), such as the cap-trapper and the CAGE. Additionally he developed a miniaturization of CAGE, in order to approach biological problems that for which there is limited amount of starting material.

From April in 2013, he is a Director of the Division Genomics Technologies and a Deputy Director of Center for Life Science Technologies, RIKEN. He has published more than 230 papers, book chapters, and edited books.

 

Edison Liu Edison Liu
The Jackson Laboratory, USA

Dr. Edison Liu is the president and CEO of The Jackson Laboratory. Dr. Liu joins the Laboratory from the Genome Institute of Singapore. As founding executive director, Dr. Liu built the GIS from a staff of three into a major research institute of 27 laboratory groups and a staff of 270, with faculty in functional genomics, computational biology, population genetics and genome-to systems biology. Before moving to Singapore in 2001, he was the scientific director of the National Cancer Institute’s Division of Clinical Sciences in Bethesda, Md.

Born in Hong Kong in 1952, Edison Liu obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University’s Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, first in a haematology fellowship at Moffitt Hospital and then as a postdoctoral fellow in the laboratory of Nobel laureate J. Michael Bishop. From 1987 to 1996 he was at the University of North Carolina at Chapel Hill, where he rose to director of the UNC Lineberger Comprehensive Cancer Centre’s Specialized Program of Research Excellence in Breast Cancer, the director of the Laboratory of Molecular Epidemiology at UNC’s School of Public Health, chief of medical genetics, and chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB.

 

Plenary Speakers

 

Naldini Luigi Naldini LUIGI
Instituto San Raffaele Telethon per la Terapica Genica – TIGET, ITALY

Luigi Naldini, M.D., Ph.D., is Professor of Cell and Tissue Biology and of Gene and Cell Therapy at the San Raffaele University School of Medicine and Scientific Director of the San Raffaele Telethon Institute for Gene Therapy, Milan, Italy. Luigi Naldini has pioneered the development and applications of lentiviral vectors for gene transfer, which have become one of the most widely used tool in biomedical research and, upon recently entering clinical testing, are providing a long sought hope of cure for several currently untreatable and otherwise deadly human diseases. Since then he has continued to investigate new strategies to overcome the major hurdles to safe and effective gene transfer, translate then into new therapeutic strategies for genetic disease and cancer, and allowed novel insights into hematopoietic stem cell function, induction of immunological tolerance and tumor angiogenesis. His recent work also contributed to advance the use of engineered nucleases for targeted genome editing in cell and gene therapy. Luigi Naldini is Member of the European Molecular Biology Organization (EMBO), has been President of the European Society of Gene and Cell Therapy (ESGCT), and was awarded an European Research Council Advanced Investigator Grant in 2009, the Outstanding Achievement Award from the American Society of Gene and Cell Therapy in 2014 and from ESGCT in 2015, an Honorary doctorate from the Vrije University, Brussel, in 2015, and the Jimenez Diaz Prize in 2016. He received his M.D. from the University of Torino and his Ph.D. in Cell and Tissue Biology from the University of Rome La Sapienza.

 

Richard Gibbs Richard GIBBS
Baylor College of Medicine, USA

Dr. Gibbs received a Ph.D. in Genetics and Radiation Biology in 1986 from the University of Melbourne, Australia. He subsequently moved to Baylor College of Medicine to study the molecular basis of human-linked diseases and to develop technologies for rapid genetic analysis. He played a key role in the early planning and development phases of the Human Genome Project. In 1996, he established the BCM Human Genome Sequencing Center and was one of five groups to complete the final phase of the project. He currently holds the rank of Director and Professor. Dr. Gibbs was elected to the Institute of Medicine in 2011.

 

Symposium Speakers

 

  1. Cancer Evolution
    Charles Swanton Charles SWANTON
    The Francis Crick Institute, UK

    Charles completed his MD PhD in 1999 at the Imperial Cancer Research Fund Laboratories and the Cancer Research UK clinician scientist/medical oncology training program in 2008. Charles has his laboratory research at the Francis Crick Institute with clinical duties focused on the biological mechanisms of cancer drug resistance. Charles was made Fellow of the Royal College of Physicians and become Chair in Personalised Cancer Medicine and Consultant Thoracic Medical Oncologist at UCL Hospitals in 2011. Charles is the Chief Investigator of the CR-UK TRACERx lung cancer evolution study and was awarded the Royal College of Physicians Goulstonian lecture and Graham Bull Prize for Clinical Sciences in 2013, appointed Fellow of the European Academy of Cancer Sciences in 2013 and Fellow of the Academy of Medical Sciences in 2015. Charles was awarded the Jeremy Jass Prize (2014), Stand up to Cancer Translational Cancer Research Prize (2015), Glaxo Smithkline Biochemical Society Prize in recognition of distinguished research leading to new advances in medical science and the Ellison-Cliffe Medal and Lecture, Royal Society of Medicine (2016). Charles became the Napier Professor in Cancer by the Royal Society in 2016.

     

    Ian Campbell Ian CAMPBELL
    Peter MacCallum Cancer Center, Australia

    Professor Campbell is co-Head of the Cancer Genomics and Genetics Program at the Peter MacCallum Cancer Centre and is at the Department of Oncology in University of Melbourne, Australia. He has over 28 years experience in cancer genetics and genomics and has made a series of seminal contributions to the understanding of the aetiology of ovarian cancer and continues a leading international role into molecular analyses of ovarian and breast cancer precursor lesions. His laboratory is also a world leader in breast cancer predisposing gene discovery using whole exome sequencing.

     

  2. Breakthrough Omics
    Michael Snyder Michael SNYDER
    Stanford University, USA

    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. His laboratory developed proteome chips, high resolution tiling arrays, methods for global mapping of transcription factor binding sites (ChIP-chip), paired end sequencing for mapping of structural variation in eukaryotes, de novo genome sequencing of genomes and RNA-Seq. He has also combined different state-of–the-art “omics” technologies to perform the first longitudinal detailed integrative personal omics profile (iPOP) of person and used this to assess disease risk and monitor disease states for personalized medicine. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Technologies), Affomix (now part of Illumina), Excelix, and Personalis, and he presently serves on the board of a number of companies.

     

    Ben Lehner Ben Lehner
    Centre for Genomic Regulation (CRG), SPAIN

    Ben Lehner received his BA and PhD from the University of Cambridge, UK and was a postdoctoral fellow at the Wellcome Trust Sanger Institute. Since 2006, he has been a group leader at the EMBL-CRG Systems Biology Program in Barcelona and is currently ICREA and AXA Professor. His lab uses model organisms and data to understand how genetic and non-genetic variation among individuals influences complex traits. Amongst other prizes, Ben was awarded the EMBO Gold Medal (2016), the Bettencourt Prize (2016) and the Eppendorf Award (2013).