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Plenary Speakers for HGM 2017!

Mike Stratton
Mike Stratton
Wellcome Genome Campus, UK

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

Richard Gibbs
Richard Gibbs
Baylor College of Medicine, USA



 

Arnold Munnich
Arnold Munnich
Hôpital des Enfants-Malades, France

Bartha Knoppers
Bartha Knoppers
McGill University, Canada

Dave Valle
David Valle
Johns Hopkins University, USA



 
 


Our Scientific Program Table


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

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)

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)

View the full program with speakers biosketch!

 
 

MEET THE PROFESSORS SESSION

Clinical Genetics Complex Human Genetics Genomic Technologies Cancer Genomics
Ada Hamosh
Ada Hamosh
Johns Hopkins, USA
Stylianos Antonarakis
Stylianos Antonarakis
University of Geneva Medical School, Switzerland
Mike Snyder
Mike Snyder
Stanford University, USA
 
Piero Carninci
Piero Carninci
RIKEN Institute, Japan
Edison Liu
Edison Liu
The Jackson Laboratory, USA


 
 


HGM2017_Barcelona 5-7 Feb

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