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March 12-15th, 2018

Human Genome Meeting 2018

PACIFICO, Yokohama, Japan

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Scientific Programme

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

“RIKEN Trainee Symposium Session held at RIKEN Yokohama Campus”
Click here for more information

Time Monday, March 12, 2018
10:30-10:40 Opening remarks (Piero Carninci)
10:40-11:10 Talk by Dr. Jürgen Reichardt (HUGO Council member)
11:10-11:40 Talk by Dr. Edison Liu (HUGO Council member)
11:40-13:00 Lunch & optional RIKEN Lab tour 1, 2
13:00-13:30 Talk by Prof. Karen B. Avraham (HUGO council member)
13:30-15:00 Trainee oral session 1
(15 minutes) Talks 1
(15 minutes) Talks 2
(15 minutes) Talks 3
(15 minutes) Talks 4
(15 minutes) Talks 5
(15 minutes) Talks 6
15:00-15:30 Break
15:30-17:00 Trainee oral session 2
(15 minutes) Talks 7
(15 minutes) Talks 8
(15 minutes) Talks 9
(15 minutes) Talks 10
(15 minutes) Talks 11
(15 minutes) Talks 12
17:00-18:30 Break & Meet the experts (HUGO Council members and invitees)
18:30-18:40 Awards & Closing
Time Tuesday, 13 March 2018
9:00 - 9:15 Opening
9:15 - 10:45

Symposium 1 - Cancer Genomics

Symposium 2 - Integration of Large Datasets
This session is sponsored by RIKEN"

(30 min)

Tatsuhiro Shibata, NCC, Japan
"Epigenetic landscape influences the liver cancer genome architecture"

Ajay Royyuru, IBM, US 

(30 min)

Yutaka Suzuki, U of Tokyo, Japan  
"Multi-omics analysis of cancer cells"

John Mattick, Garvan Institute, Australia  
"The transformation of medical research and healthcare by genomics and big data"

(30 min)

Scientific talk by
1) ThermoFisher Scientific
2) PacBio

Masayuki Yamamoto, Tohoku Medical Megabank Organization, Japan  

10:45 - 11:15 Coffee Break & Exhibition
11:15 - 12:00 Plenary 1: Nancy Cox, Vanderbilt University, US
12:00 - 13:00 Luncheon Session by ThermoFisher Scientific Luncheon Session by Tommy Digital Bio (PacBio)
12:00 - 13:30 Lunch
13:30 - 15:00

Symposium 3 - DNA Damage and Replication

Symposium 4 - Data Sharing for Personalized Medicine

(30 min)

Naama Barkai, Weizmann Institute, Israel

Ewan Birney, EMBL, UK  
"Big Data in Biology and Medicine"

(30 min)


Sir John Burn, Newcastle University, UK  
"Variant interpretation: a global challenge"

(30 min)

Company Talk by BGI

Company Talk by BGI

15:00 - 16:30 Coffee Break & Poster Walk Session & Exhibition
16:30 - 18:00

Symposium 5 - Single Cell Biology

Symposium 6 - Human Development

(30 min)

Stephen Quake, Stanford University, US  
"Physiology and Aging Probed with Single Cell Genomics"

Jennifer Mitchell, University of Toronto, Canada  
"Enhancer switching regulates Sox2 during the transition from embryonic to neural stem cells"

(30 min)

Sten Linnarsson, Karolinska Institute, Sweden  

Amalio Telenti, Human Longevity, US  
"Analysis of 150,000 human genomes"

(30 min)

Barbara Treutlein, Max Planck Institute, Germany  
"Reconstructing human organogenesis using single-cell transcriptomics"

Scientific Talk by BGI

18:00 - 18:30 Travel to Welcome Reception venue
18:30 - 20:30 Welcome Reception
Tuesday, 13 March 2018
Plenary Speaker
Vanderbilt University, US

Dr. Cox worked for many years on the analysis of sequence data in the context of the T2DGENES project, and also collaborating in generating content for portal serving results and analyses for sequencing and other genome studies in type 2 diabetes. A major focus of current research is in conducting research in BioVU, the biobank at Vanderbilt University, in which we have DNA samples on more than 230,000 subjects linked to electronic health records going back average of ~10 years, and up to 20 years.

Dr. Cox and her team develops methods for analyzing genetic and genomic data and then applies those methods to the analysis of genome data on common diseases and translational phenotypes, such as pharmacogenomics traits. They have a particular focus now on the integration of information on genome function with methods for the analysis of genome data on disease and complex traits. Her most recent methods development has focused on the development of genome predictors of expression of genes across all GTEx tissues. Using GTEx as a reference panel for predicting gene expression phenotypes is analogous to the way 1000 Genomes Project data have been used as a reference panel for imputation of SNP data.

Symposium Speaker
National Cancer Center, Japan

Dr. Shibata received his MD/PhD in pathology from the University of Tokyo. He then did his post-doctral research in the University of California, Irvine. He has been Chief of Cancer Genomics Division at the National Cancer Center, Tokyo since 2010, and concurrently been professor in the Laboratory of Molecular Medicine, University of Tokyo since 2014. His research interest includes cancer genomics, tumor pathology and bioinformatics. He is also a PI of the Japanese research group in the International Cancer Genome Consortium, and has been working on liver, biliary tract and gastric cancers.

University of Tokyo, Japan

My lab employ versatile applications of next generation sequencing technologies, such as Whole Genome/Exome Seq, RNA Seq, ChIP Seq and Bisulfite Seq to understand the biological meaning of the identified genomic mutations. Advent of the next generation sequencing technologies has enabled us to analyze thousands of human genomes. Consequently, a rapidly increasing number of mutations have been identified and associated with various diseases, such as cancers. However, it still remains elusive how these mutations invoke changes in epigenome, transcriptome, or proteome functions. For the diseases as exemplified below, we are conducting an integrative analysis of multi-omics data, namely DNA methylation, histone modifications, biding patterns of transcriptional regulatory factors and gene expression patterns. Furthermore, to complement currently undetectable layers of transcriptome regulations, we are developing novel methods, based on the latest genomic technologies, such as next generation sequencing, single cell analysis and single molecule sequencing technologies. Also, as a one of the representative sequencing centers in Japan, we are distributing the next sequencing platforms and the related technologies widely to the research community.


Ajay Royyuru leads Healthcare & Life Sciences research at IBM. His team is actively pursuing high quality science, developing novel technologies and achieving translational insights across this industry, including areas of cancer, cardiac, neurological, mental health, immune system, and infectious diseases. Scientific interests and active projects include genomics, protein science, systems biology, computational neuroscience, health informatics, miniaturizing for medical devices, and nano-biotechnology.

Working with institutions around the world, he is engaged in research that will advance personalized, information-based medicine. Ajay previously led the life sciences research portfolio through the Computational Biology Center and led the IBM Research team with National Geographic Society on the Genographic Project. Ajay has authored numerous research publications and several patents in structural and computational biology. His work has featured in The New York Times, The Washington Post, BBC, Forbes, Scientific American, Nature Medicine, and Nature news articles.

After his undergraduate and masters education in human biology and biophysics from All India Institute of Medical Sciences, New Delhi, Ajay obtained his Ph. D. in molecular biology from Tata Institute of Fundamental Research, Mumbai. He had postdoctoral training at Memorial Sloan-Kettering Cancer Center, New York and a brief stint at scientific software development before joining IBM Research.

In 2016 Ajay was named an IBM Fellow, the company's pre-eminent technical distinction. Ajay is a member of International Society for Computational Biology, IBM Academy of Technology, and IBM Industry Academy.

Garvan Institute, Australia

John Mattick is the Executive Director of the Garvan Institute of Medical Research. He spent much of his career at the University of Queensland, where he was Foundation Director of the Institute for Molecular Bioscience and the Australian Genome Research Facility. He was recently named by NHMRC as the one of the all-time high achievers in Australian health and medical research, and by Thomson Reuters as one of the world’s most influential scientific minds. His honours and awards include the inaugural Gutenberg Professorship of the University of Strasbourg, the Order of Australia and Australian Government Centenary Medal, Fellowship of the Australian Academy of Science and the Australian Academy of Health & Medical Sciences, Honorary Fellowship of the Royal College of Pathologists of Australasia, the International Union of Biochemistry & Molecular Biology Medal, the Human Genome Organisation Chen Award for Distinguished Achievement in Human Genetic & Genomic Research, and the MD Anderson Cancer Center Bertner Memorial Award for Distinguished Contributions to Cancer Research. He has overseen the development of a number of startup enterprises, including most recently one of the world’s first clinical genomics companies.

Tohoku Medical Megabank Organization, Japan

Since our initial discovery of the GATA transcription factor family, we have been investigating the molecular mechanisms of transcriptional regulation in physiologically essential processes, especially hematopoietic differentiation and homeostasis. To conduct those researches, we have utilized an integrative approach, that includes: 1) transgenic and mutant mouse studies, 2) numerous in vitro molecular biology and biochemical techniques, and 3) high-throughput biology paired with computational bioinformatics. Current our projects focus on: 1) regulatory interactions between GATA1 and GATA2, 2) GATA2 function in hematopoietic stem cells, and 3) leukemogenesis caused by disruptions in GATA1 function.

Also, we have discovered that a novel molecular pathway, the Nrf2-Keap1 system, can respond to oxidative stress by inducing detoxification enzymes. We aim to elucidate in greater detail the molecular basis of this “Environmental response”. The transcription factor Nrf2 is a critical mediator in this system that comprehensively regulates expression of numerous stress responsive enzymes and detoxification enzymes. Conversely, Keap1 constitutively suppresses Nrf2 activity through rapid Nrf2 degradation. Thus Nrf2 activation equates with liberation from Keap1 suppression. Furthermore, Keap1 functions as a sensor of oxidative and electrophilic stresses. Thus our laboratory has made pioneering contributions to the understanding of the cellular and molecular basis of the oxidative stress response.

Stanford University, US

Stephen Quake studied physics (BS 1991) and mathematics (MS 1991) at Stanford University. At Caltech, he started a research program that began with single molecule biophysics and soon expanded to include the invention of microfluidic large scale integration and its application to biological automation, the first microfluidic droplet devices, and the first single molecule DNA sequencing.

Professor Quake's interests lie at the nexus of physics, biology and biotechnology. His group pioneered the development of Microfluidic Large Scale Integration (mLSI), demonstrating the first integrated microfluidic devices with thousands of mechanical valves. This technology is helping to pave the way for large scale automation of biology at the nanoliter scale, and he and his students have been exploring applications of lab-on-a-chip technology in functional genomics, genetic analysis, and structural biology. Professor Quake is also active in the field of single molecule biophysics.

Karolinska Institute, Sweden

Sten Linnarsson took his PhD in 2001, studying neurotrophic factors regulating neuronal survival, growth and plasticity. Instead of a postdoc, he founded a company to develop methods for gene expression analysis and single-molecule DNA sequencing. In 2007, he was appointed assistant professor and in 2015 Professor of Molecular Systems Biology at Karolinska Institute. He was awarded the 2015 Erik K. Fernström Prize for his work in single-cell biology.

Linnarsson’s aim is to discover the complete lineage tree of the developing human nervous system. To achieve this goal, he uses single-cell RNA sequencing, RNA single-molecule FISH, and advanced computational methods. Ultimately, he hopes to discover general principles of how cells acquire and maintain their molecular identities.

Max Planck Institute, Germany

Barbara Treutlein studied chemistry at the Universities of Tübingen and Mainz and at UC Berkeley in 2001-2007. From 2007-2012, she performed her doctoral research in single-molecule biophysics with Jens Michaelis at LMU Munich, followed by a Postdoc in the field of single-cell genomics with Stephen Quake at Stanford University from 2012-2014. Since 2015, she is a Max Planck Research group leader at the MPI-EVA in Leipzig and the MPI-CBG in Dresden. In 2016, Barbara Treutlein was appointed as a tenure-track assistant professor at TU Munich.

In her interdisciplinary research, Barbara Treutlein integrates the fields of single-cell genomics, developmental biology and stem cell biology. She develops and applies microfluidic-based methods to measure the transcriptome of single cells. Using these methods, she tries to understand the genetic foundations of human organ development, how this process can be mimicked under controlled conditions in vitro and what goes wrong when mutations in the genome lead to developmental disorders.

The European Molecular Biology Laboratory, UK

Ewan Birney is Director of EMBL-EBI with Dr Rolf Apweiler, and runs a small research group. He played a vital role in annotating the genome sequences of 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 completed his PhD at the Wellcome Trust Sanger Institute with Richard Durbin, and worked in the laboratories of leading scientists Adrian Krainer, Toby Gibson and Iain Campbell. He 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. Ewan was elected a Fellow of the Royal Society in 2014 and a Fellow of the Academy of Medical Sciences in 2015.

Ewan is a non-executive Director of Genomics England, and is a consultant and advisor to a number of companies, including Oxford Nanopore Technologies and GSK.

Newcastle University, UK

Professor Sir John Burn obtained an MD with distinction, a first class honours degree in human genetics from Newcastle University, where he has been Professor of Clinical Genetics since 1991 and a consultant specialist since 1984. He led the regional NHS Genetics Service for 20 years and helped to create the Centre for Life which houses an education and science centre alongside the Institute of Genetic Medicine and Northgene Ltd, the identity testing company he launched in 1995. He chairs DNA device company QuantuMDx. He was knighted in 2010, chosen as one of the first 20 ‘local heroes’ to have a brass plaque on Newcastle Quayside in 2014. He received the Living North award in 2015 for services to the North East 2000 – 2015. He is also a non-Executive Director of NHS England.

Weizmann institute, Israel

Naama Barkai is Professor at the Weizmann Institute of Science where she is using theoretical and computational tools to investigate system-level properties of biological networks. Cells are constantly "making decisions" - monitoring their environment, modulating their metabolism and 'deciding' whether to divide, differentiate or die. For this, they use biochemical circuits composed of interacting genes and proteins. Advances over the past decades have mapped many of these circuits. Still, can we infer the underlying logic from the detailed circuit structure? Can we deduce the selection forces that shaped these circuits during evolution? What are the principles that govern the design and function of these circuits and how similar or different are they from principles that guide the design of man-made machines? The interplay between variability and robustness is a hallmark of biological computation: biological systems are inherently noisy, yet control their behavior precisely. Research projects in our lab quantify biological variability and identify its genetic origins, examine how variability is buffered by molecular circuits and investigate whether variability can in fact be employed to improve cellular computation. We encourage a multi-disciplinary approach, combining wet-lab experiments, dynamic-system theory and computational data analysis. This is achieved through fruitful interactions between students with backgrounds in physics, biology, computer science, mathematics and chemistry.

University of Toronto, Canada

Our research investigates how the genome is folded and organised in the nucleus and how this organisation influences regulation of gene expression. We often think about transcription as occurring on a particular gene in a linear manner whereas the nucleus is a three dimension organelle into which the genome is folded and organised. Recent work has shown that all transcription occurs at discreet compartments within the nucleus, termed transcription factories, with genes moving in and out of these compartments as they are expressed and silenced. Furthermore, distal enhancers have been shown to physically contact the genes they regulate forming tissue-specific chromatin loops. Our lab uses a combination of Molecular Biology and Cellular Imaging Techniques combined with genome-wide approaches and bioinformatics analysis to investigate the mechanisms that underlie tissue-specific regulation of gene expression and genome folding.

Human Longevity Inc., US

Amalio Telenti joined Human Longevity Inc. in 2014. As CSO, he directs advanced analytics in genomics and research initiatives at HLI. He led the analysis of the first 10,000 deep sequenced human genomes, as well as the definition of a map of conservation and organization of the regulatory structures in the human genome. He also is a member of the faculty of The Skaggs School of Pharmacy and of the Department of Medicine at UCSD. Prior to joining Human Longevity Inc., Amalio Telenti served as Professor and Director of the Institute of Microbiology of the University of Lausanne, Switzerland where he actively developed a program of host-pathogen genomics. He is member of the Scientific Advisory Board of PosNoGap \ Swiss Platform for Advanced Scientific Computing, of the Center for Integrative Genomics, U. of Lausanne, of the Institute Pasteur – Chinese Academy of Sciences, Shanghai, and was member of the Scientific Executive Board of the Swiss National Program for Systems Biology. Amalio Telenti is American Board certified in Internal Medicine. He carried out medical training at the Mayo Clinic in Rochester, MN. Amalio Telenti is a member of the Swiss Academy of Medical Sciences.

Time Wednesday, 14 March 2018
9:00 - 10:00

Special Session - HUGO Past Presidents Session

Sir Walter Bodmer, Thomas Caskey, Grant Sutherland, Gert-Jan van Omman, Lap-Chee Tsui, Yoshiyuki Sakaki, Edison Liu, Stylianos Antonarakis

10:30 - 12:00

Symposium 7 - OECD Session (Microbiome)

Symposium 8 - HVP Session

(20 min)

Speaker 1

Johan T den Dunnen , Leiden University, Netherlands
"Standards and sharing: essential for optimal DNA-based diagnostics"

(20 min)

Speaker 2

Gunnar Rätsch, ETH Zurich, Switzerland
(20 min)

Speaker 3

Ingrid Winship, U of Melbourne, Australia
"The equitable use of genomics in clinic practice"
(20 min) Speaker 4 Carsten Lederer, The Cyprus Institute of Neurology and Genetics, Cyprus
"The HVP Global Globin 2020 Challenge and the ITHANET Portal: pioneering global epidemiological data collection and removing the diagnostic divide"
(10 min)



12:00 - 13:30 Lunch
12:00 - 13:30 Lunch (President Invited Lunch with Press - By Invitation)
12:00 - 13:00 Luncheon Session 3 Luncheon Session 4
13:30 - 15:00

Symposium 9 - Genome Editing

Symposium 10 (RIKEN session) - Anatomy of the Human Genome

(30 min) Andrea Crisanti, Imperial College London, UK
"Editing population genetics for vector control"

David Hume, U of Edinburgh, Scotland
"Guilt by Association. Insights into innate immunity, cellular processes, transcriptional networks and complex trait genetics from the FANTOM5 data"

(30 min)

Company Talk by EDITAS

Alistair Forrest, U of Western Australia, Australia
"An atlas of human functional long non-coding RNAs "

(30 min)

Company Talk

Jay Shin, RIKEN, Japan 
"FANTOM6: From Discovery to Functional Understanding of Long Non-Coding RNA"
15:00 - 16:30

Coffee Break & Poster Walk Session & Exhibition

16:30 - 18:00

Oral Presentation Sessions

Trainee Award Presentation

(15 min)

Oral 1

RIKEN trainee symposium awardee presentation

(15 min)

Oral 2

RIKEN trainee symposium awardee presentation

(15 min)

Oral 3

RIKEN trainee symposium awardee presentation

(15 min)

Oral 4

RIKEN trainee symposium awardee presentation

(15 min)

Oral 5

RIKEN trainee symposium awardee presentation

(15 min)

Oral 6

RIKEN trainee symposium awardee presentation

18:00 - 18:30 Travel to Conference Dinner venue
18:30 - 20:30 Conference Dinner (Ticketed Event)
Wednesday, 14 March 2018
Special Session Speaker

Walter Bodmer was born in 1936 in Frankfurt am Main, Germany, came to England at a very young age and went to Manchester Grammar School and Cambridge University where he studied mathematics. Having become fascinated with genetics, taught by R A Fishers as part of the mathematics course, in Cambridge, he did his PhD with Fisher in population genetics. He then went as a Post Doctoral fellow in 1961 to work with Joshua Lederberg at Stanford University and to learn molecular biology. While there, eventually as a member of the Faculty for eight years, he initiated the work with his wife, Julia Bodmer, and with Rose Payne, which contributed to the discovery of the HLA system, and also his long standing involvement with somatic cell genetics.

In 1970 Walter Bodmer returned to the UK to take up the chair of genetics at Oxford. In 1979 he left Oxford to become Director of Research at the Imperial Cancer Research Fund Laboratories in London and was appointed the first Director-General of the Fund in 1991. On retirement from the ICRF in 1996, he returned to Oxford University as Principal of Hertford college, and as head of the ICRF, now CRUK, Cancer and Immunogenetics laboratory at the Weatherall Institute of Molecular medicine.

Walter Bodmer was one of the first to suggest the idea of the Human Genome Project and was first a Vice- President, and then the second President of HUGO. He has made major contributions to human population genetics, somatic cell genetics, the development of the HLA system and more recently to cancer genetics, especially as applied to colorectal cancer.Walter Bodmer was elected FRS in 1974, Knighted in 1986 for his contributions to science, is a Foreign Associate of the US National Academy of sciences and is the recipient of more than 30 honorary degrees and memberships and fellowships of scientific and medical societies.

Baylor College of Medicine, US

Dr. Caskey was the CEO of The Brown Foundation Institute of Molecular Medicine at UTHSC-Houston. Dr. Caskey served as Senior VP, Human Genetics and Vaccines Discovery at Merck Research Laboratories, West Point, and as President of the Merck Genome Research Institute.

Dr. Caskey is Board Certified in Internal Medicine, Medical Genetics, and Molecular Genetics with 25 years of patient care experience. Member of: National Academy of Sciences, Institute of Medicine (Chair, Board on Health Sciences Policy), Royal Society of Canada, past President: American Society of Human Genetics & Human Genome Organization, and Texas Academy of Medicine, Engineering and Science. He is an editor of the Annual Reviews of Medicine.

Dr. Caskey received numerous academic and industry honors. His genetic research identified genetic basis of 25 major inheritable diseases and clarified the understanding of “anticipation” in triplet repeat diseases (Fragile X, myotonic dystrophy and over 25 others). His personal identification patent is the basis of worldwide application for forensic science and he is also a consultant to the FBI in forensic science.

Dr. Caskey is currently directing a program of Precision Medicine with Young Presidents Organization (YPO) co-sponsored by The Cullen Foundation for Higher Education. The program won the YPO International Award for most innovative education program. He is a Consultant to Human Longevity, Inc. and a member of the Board of Metabolon, Inc., both, leaders in precision medicine technology. Recent publications address the utility of genome wide sequencing to preventive adult onset diseases. His current research focuses on the application of whole genome sequence and metabolomics of individuals toward the objective of disease risk and its prevention.

Grant Sutherland was Head of the Department of Cytogenetics and Molecular Genetics at the Women's and Children's Hospital (WCH) from 1975 until 2002 and WCH Foundation Research Fellow from 2002 until 2007. He has been an Affiliate Professor in the Department of Paediatrics, and School of Molecular and Biomedical Science of the University of Adelaide since 1991.

His research interests included fragile sites on chromosomes including the fragile X, and the human genome project. He published some 500 papers and co-authored two books, one of which is now in its fourth edition. He served on the Editorial Boards of more than 20 scientific/medical journals. He is a past President of the Human Genome Organisation (HUGO) and the Human Genetics Society of Australasia (HGSA).

His work and that of his group attracted funding from the US Department of Energy, the Howard Hughes Medical Institute and NHMRC program grants from 1987 to 2006. Awards included being a Fulbright Senior Scholar (1983), a co-recipient of the Australia Prize, 1998 (subsequently renamed the Prime Minister's Prize), the Ramaciotti Medal for excellence in biomedical research (2001) and being named an ISI Thomson Australian Citation Laureate (2004). The HGSA instituted an annual Sutherland lecture in 2005. He was the South Australian nominee for Australian of the year in 2001. Sutherland became a Companion of the Order of Australia in 1998, was elected a Fellow of the Royal Society of London in 1996 and a Fellow of the Australian Academy of Science in the following year.

Gert-Jan van Ommen, PhD, is former head of the Department of Human Genetics of Leiden University Medical Center (1991-2012), founder of the Leiden Genome Technology Center, director of the Center for Medical Systems Biology and board member of BBMRI-NL, ASHG and P3G. He is a founding member of BBMRI-ERIC, BBMRI-NL and co-coordinator of projects BBMRI-LPC and NeurOmics. Van Ommen is Editor-in-chief of the European Journal of Human Genetics, past president of HUGO and of the European and Dutch Societies of Human Genetics and past and current member of several committees in the fields of genetics, innovative health care, genomics, bioinformatics, biobanking, ethics and IP issues.

Van Ommen is specialized in neuromuscular diseases and biobanking. His main aim is to help improving diagnosis, therapy and prevention of rare and common diseases, including the societal aspects of genetic advances. His group has pioneered the diagnosis of genetic disease: performing the first prenatal diagnosis using DNA markers of DMD, developing many innovative gene mapping and mutation detection techniques, generating the first megabase map of a human gene (DMD). As of 1998, his group has been pioneering the exon-skipping approach as a therapy for DMD, in close collaboration with Leiden biotech company Prosensa since 2003, in 2015 acquired by Biomarin (San Francisco, USA). In this same year their first antisense-based DMD therapeutic product, Drisapersen, was submitted for approval to FDA and EMA.

Dr. Lap-Chee Tsui is the Founding President of the Academy of Sciences of Hong Kong. He is also President of Victor and William Fung Foundation, Hong Kong, and Director of Qiushi Academy for Advanced Studies, Zhejiang University, China. He was the immediate-past Vice Chancellor of The University of Hong Kong and, prior to which, he was Geneticist-in-Chief at the Hospital for Sick Children in Toronto and University Professor at University of Toronto, Canada.

Professor Tsui received his Bachelor and Master degrees from the Chinese University of Hong Kong and his PhD from University of Pittsburgh in 1979. He is world renowned for his research work in human genetics and genomics, notably the identification of the gene for Cystic Fibrosis in 1989 and, later, other human genetic diseases while conducting a comprehensive characterization of human chromosome 7.

Dr. Tsui has over 300 peer-reviewed scientific publications and 65 invited book chapters. He is the recipient of many national and international prizes, and a Fellow of Royal Society of Canada, Fellow of Royal Society of London, Fellow of Academia Sinica, Foreign Associate of the National Academy of Sciences USA, Foreign Member of the Chinese Academy of Sciences, and Laureate of the Canadian Medical Hall of Fame. He has received many awards over the years, including 15 honorary doctoral degrees from universities around the world, the Order of Canada, the Order of Ontario, Knight of the Légion d'Honneur of France.

Dr. Yoshiyuki Sakaki was born in 1942 at Nagoya, Japan. He is the Professor of University of Tokyo, Institute of Medical Science, Human Genome Center and also the Project Director of Genomic Sciences Center at RIKEN. He has been heavily involved in the Human Genome Project and acted the Vice-President of HUGO, the Representative of "Genome Science" Project, and a five-year Human Genome Project of Monbusho, Japan. He has been the President of HUGO since April, 2002. His major interest is molecular biology of Down Syndrome and other neurological disorders. He recently completed the sequencing of chromosome 21 and is now particularly working for molecular pathogenesis of Down Syndrome. In addition, he identified a responsible gene for familial amyloidotic polyneuropathy (FAP) in 1984, and human biological clock gene "period" in 1997. Also his group demonstrated for the first time that human LINE-1 is a retro-transposon in 1986. He was awarded to "Chevalier" from France Government in August 2001, in recognition of his contribution to the scientific co-operation between France and Japan.

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.

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.

Symposium Speaker
Leiden University, Netherlands

Johan T. den Dunnen (PhD) is professor Medical Genomics, working in the depts. of Human Genetics and Clinical Genetics at the Leiden University Medical Center (Leiden, Nederland). He is a trained biologist, specialized in molecular biology/molecular genetics, performing research in the area of genetic diseases. As initiator of the Leiden Genome Technology Center (LGTC) he focuses on the development and application of high-throughput genome technology in research and diagnosis of genetic disease. He started his career to work on Duchenne and Becker muscular dystrophy for which his group developed several diagnostic tests as well as invented the “exon skipping” technology for the treatment for DMD/BMD and other diseases. His current focus is on next generation sequencing and data analysis pipelines, especially exome/genome sequencing and RNA-expression profiling and gene variant databases (the LOVD platform): trying to make sense of a genome. He is active for several international organizations promoting standardized variant reporting (HGVS nomenclature to describe sequence variants) and data sharing. DNA diagnostics is based on sharing data on genes, variants and phenotypes. Without sharing DNA diagnostics is not possible.

ETH Zurich, Switzerland

Gunnar Rätsch leads the Biomedical Informatics group at the Institute of Machine Learning at the ETH Zurich since May 2016. Before that he was an Associate Professor at Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College in New York City, where he will continue to hold adjunct positions for the coming years.

He studied computer science and physics and obtained his Ph.D. degree in Machine Learning in 2001 at the National Institute for Data Analysis in Berlin. As a postdoctoral fellow he was at the Research School of Information Sciences and Engineering of the Australian National University in Canberra (Australia) and at the Max Planck Institute for Biological Cybernetics in Tübingen (Germany). Between 2005 and 2011 he also led a research group at the Friedrich Miescher Laboratory of the Max Planck Society in Tübingen (Germany). In 2002, he received the Michelson award for his Ph.D. work with in Machine Learning and in 2007 he was awarded the Olympus prize from the German Association for Pattern Recognition for his work on Boosting.

His group’s research at ETH lies at the interface between methods research in machine learning & sequence analysis and relevant application areas in biology & medicine. In interdisciplinary collaborations, his group has significantly contributed to the understanding of several RNAdependent processes including RNA splicing and translation.

University of Melbourne, Australia

Professor Winship completed her medical training and postgraduate training in genetics and dermatology at the University of Cape Town, followed by a combined academic and clinical position there. In 1994, she joined the University of Auckland where she later became Professor of Clinical Genetics, Associate Dean Research, and Clinical Director of the Northern Regional Genetic Service.

Professor Winship has a wide range of clinical and research interests in inherited disorders, particularly those with adult onset, including familial cancer, and where foreknowledge of genotype may influence clinical or lifestyle measures to create positive patient outcomes. She has experience in gene discovery and in the translation of discovery into clinical practice. She has also highlighted the societal implications with research into the ethical, legal, cultural and psychosocial domains of genetic technology.

The Cyprus Institute of Neurology and Genetics, Cyprus

Dr Lederer is researcher and head of unit in the Department of Molecular Genetics Thalassemia (MGTD; head: Marina Kleanthous) at the Cyprus Institute of Neurology and Genetics (CING), where he is the organiser of the CING Lectures site seminar series. As assistant professor at the Cyprus School for Molecular Medicine he is course coordinator and faculty member for the courses Introduction to Molecular Biomedical Sciences and Molecular Basis of Monogenic Diseases, respectively.

Dr Lederer received his MSc from the Friedrich-Wilhelm University, Bonn, Germany and his PhD from the University of East Anglia, Norwich, UK. After postdoctoral work at the University of Cyprus and the CING on cell biology and functional genomics of amyotrophic lateral sclerosis he turned to development of advanced therapies and electronic infrastructures for thalassaemia. He has since set up a gene-therapy research programme at the CING, where he now heads the MGTD Gene Therapy and Genome Editing unit, and has achieved competitive funding for and continues to contribute to the ITHANET Portal for haemoglobinopathies, the largest repository for data related to haemoglobinopathies. Dr Lederer is member of the steering committee for the Global Globin 2020 Challenge, a global initiative of the Human Variome Project for the haemoglobinopathies, is board member and web content developer of the Cyprus Society of Human Genetics and a member of the European Society of Human Genetics and the Hellenic Society of Gene Therapy and Regenerative Medicine.

Imperial College London, UK

Andrea Crisanti is professor of molecular parasitology at Imperial College and Professor of Clinical Microbiology at the University of Perugia, Italy. He graduated in Medicine at the University of Rome "la Sapienza', and carried his doctoral work at the Basel Institute for Immunology. After the doctorate he was awarded a three years EMBO fellowship at the University of Heidelberg, Germany. Thereafter he was employed as medical consultant at the University of Rome Institute of Parasitology. Prof. Crisanti has pioneered the molecular biology of the human malaria vector Anopheles gambiae and has made a number of important scientific contributions that advanced the genetic and molecular knowledge of the malaria parasite and its mosquito vector. More recently Prof. Crisanti has applied concepts of synthetic biology for the development of genetic vector control measures aimed at either eliminating wild type mosquito populations or at interfering with their ability to transmit malaria. This resulted in the development and validation of a CRISPR based genetic drive system capable of spreading, into wild type mosquitoes, mutations impairing female fertility genes. The development of gene drive is generating a growing scientific interest as well as the attention of policy makers, media and pressure groups as a consequence of its implication in manipulating the genetic make up of wild species.

Johns Hopkins University, US

Jeffrey Kahn is the Andreas C. Dracopoulos Director of the Johns Hopkins Berman Institute of Bioethics.  He is also Levi Professor of Bioethics and Public Policy, and Professor in the Department of Health Policy and Management in the Johns Hopkins University Bloomberg School of Public Health.  His research interests include the ethics of research, ethics and public health, and ethics and emerging biomedical technologies. He speaks widely both in the U.S. and abroad, and has published four books and over 125 articles in the bioethics and medical literature. He is an elected member of the National Academy of Medicine and a Fellow of the Hastings Center, and has chaired or served on committees and panels for the National Institutes of Health, the Centers for Disease Control, and the Institute of Medicine/National Academy of Medicine, where he is currently chair of the Board on Health Sciences Policy. His education includes a BA in microbiology (UCLA, 1983), MPH (Johns Hopkins, 1988), and PhD in philosophy (Georgetown, 1989).

The University of Edinburgh, Scotland

Professor David Hume is an international authority in genome sciences, with a particular focus on the function of macrophages, specialised cells of the immune system involved in infection, inflammatory disease and cancer. He was Director of The Roslin Institute and Research Director of the Royal (Dick) School of Veterinary Studies between 2007 and 2017. He was previously Director of the ARC Special Centre for Functional and Applied Genomics at the Institute for Molecular BioScience at the University of Queensland.

University of Western Australia, Australia

Professor Alistair Forrest is the inaugural Cancer Research Trust Senior Fellow and head of the systems biology and genomics lab at the Harry Perkins Institute of Medical Research, University of Western Australia. He also holds a visiting senior scientist position at RIKEN Japan. He is an expert in transcriptomics and as scientific coordinator of the FANTOM5 consortium led an international team to global maps of human promoters, enhancers and long non-coding RNAs. These are landmark resources that are being used world-wide to build transcriptional regulatory networks, understand the effect of regulatory variant polymorphisms and for identifying cancer biomarkers. In 2016 he and the FANTOM5 team were awarded the Eureka Prize for Excellence in International Scientific Collaboration by the Australian Museum. He was also awarded the 2016 Millennium Science mid-career award at Lorne Genome. His lab is currently using bioinformatic and genomic approaches to study the relationship between tissue specific expression and tissue specific disease phenotypes, ligand-receptor mediated cell-to-cell communication networks and to build enhancer aware transcriptional regulatory network models.

RIKEN, Japan

Dr. Jay W. Shin acquired his PhD at ETH Zurich, Switzerland after his research training at Harvard Medical School (HMS) under Prof. Michael Detmar. During this period, Jay investigated Transcriptional Regulatory Network controlling tumor angiogenesis. Passionate for transcriptome, Jay continued his research at the RIKEN Institute under Dr. Yoshihide Hayashizaki as a postdoctoral fellow. Now, as a team leader, Jay is co-leading FANTOM6 – investigating the functional role of long non-coding RNAs – together with Dr. Michiel de Hoon. Jay enjoys developing new technologies and functional genomics platforms to decipher the molecular mechanisms involved in cellular plasticity and reprogramming. 

Time Thursday, 15 March 2018
8:00 - 09:00

Meet the Editors Session from Science, Nature, Nature Genetics, CSHL, EMBO and Human Genomics

9:00 - 09:45

Plenary 2: Adrian Krainer, Cold Spring Harbor Laboratory, US
"Development of Spinraza for the treatment of spinal muscular atrophy"

09:45 – 10:45

Chen Award

10:45 - 11:15

HUGO African Prize

11:15 - 12:30


11:30 - 12:30 Luncheon Session by Fluidigm K.K. Luncheon Session 6
12:30 - 14:00

Symposium 11 - Population and Evolutionary Genetics

Symposium 12 - Model Organisms for Human Diseases

(30 min)

Svante Pääbo, Max Planck Institute, Germany
"Archaic Genomics"

Peter Koopman, U of Queensland, Australia
"Disorders of Sex Development: What we’re learning from CRISPR/Cas9 in mice"

(30 min)

Michel Georges, Universite de Liege, Belgium
"Risk loci for inflammatory bowel disease are enriched in multigenic regulatory modules that act across cell types and encompass causative genes"

Nadia Rosenthal, The Jackson Laboratory, US

(30 mins each)

Peter Visscher, U of Queensland, Australia

Teresa Nicolson, Oregon Hearing Research Center, US
"Using zebrafish to gain basic insights into human deafness"

14:00 - 14:45

Coffee Break & Exhibition

14:45 - 15:30

Plenary 3: Yuan-Tsong Chen, Academia Sinica, Taiwan
"Therapies for genetic diseases: Lessons learned from Pompe disease"

15:30 - 16:00

Student Award

16:00 - 16:30

Closing Remarks

17:00 - 20:00 Council Meeting (Invitation Only)
Thursday, 15 March 2018
Plenary Speaker
Cold Spring Harbor Laboratory, US

Dr. Adrian Krainer is the St Giles Professor of Molecular Genetics and Program Chair of Cancer & Molecular Biology at Cold Spring Harbor Laboratory, which he joined in 1986. He received a B.A. in Biochemistry from Columbia University and a Ph.D. in Biochemistry from Harvard University. His laboratory studies pre-mRNA splicing regulation, and is also engaged in developing targeted therapies to correct or modulate alternative splicing in genetic diseases and cancer. Together with Ionis Pharmaceuticals, they developed nusinersen (Spinraza), an antisense-oligonucleotide drug that corrects defective splicing of the SMN2 gene and is the first FDA/EMA-approved therapy for spinal muscular atrophy, an inherited motor-neuron disease. Prof. Krainer is a Pew Biomedical Scholar, a MERIT-award recipient from the NIH, a past President of the RNA Society, and a member of the American Academy of Arts and Sciences and the Royal Society of Medicine. He has authored ~200 publications and 18 patents.

Academia Sinica, Taiwan

Professor Yuan-Tsong (Y-T) Chen received his MD degree from National Taiwan University (Taipei) and PhD from Columbia University (USA). He is Director Emeritus and Distinguished Research Fellow of the Institute of Biomedical Sciences, Academia Sinica, Taiwan and also Professor Emeritus of Pediatrics of Duke University.

Professor Chen is a physician and 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. He has also identified susceptibility genes for several human diseases, including genes for diabetes, Kawasaki disease and severe adverse drug reactions.

Professor Chen has published more than 280 peer-review journal articles and contributed numerous book chapters in textbook, such as Harrison’s Principles of Internal Medicine and Nelson’s Pediatrics.

Professor Chen is an elected member of Academia Sinica, Taiwan and an elected member of the World Academy of Sciences.

Symposium Speaker
Max Planck Institute, Germany

Svante Pääbo has developed techniques and approaches that allow DNA sequences from archaeological and paleontological remains to be determined. This has allowed ancient DNA from extinct organisms, humans, animals and pathogens to be studied. He determined a high-quality Neandertal genome sequence, allowing for the reconstruction of the recent evolutionary history of our species and the realization that Neandertals contributed DNA to present-day humans who live outside Africa. By studying DNA sequences from a small Siberian bone he discovered Denisovans, a previously unknown hominin group distantly related to Neandertals. He also works on the comparative and functional genomics of humans and apes, particularly the evolution of genetic features such as the FOXP2 ‘speech and language’ gene that may underlie aspects of traits specific to humans.

Svante Pääbo has received several honorary doctorates and scientific prizes and is a member of numerous academies. He is currently a Director at the Max-Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

Universite de Liège, Belgium

Michel Georges received his Doctor of Veterinary Medicine from the University of Liège in 1983, followed by a Master of Science in Molecular Biology from the Free University of Brussels in 1985. Since 1994 he has been heading the Unit of Animal Genomics at the University of Liège. He played an instrumental role in establishing the GIGA (Interdisciplinary Cluster for Applied Genoproteomics) Research Institute within the University of Liege. In 2006, the Unit of Animal Genomics became part of GIGA, and Michel Georges is now the Research Director of GIGA.

Michel is well known for his research in the field of animal genetics and genomics. He is one of the world leaders in the development of tools and strategies for increasing the efficiency of genome analysis for livestock improvement. He has been instrumental in the identification and mapping of genes affecting both single gene and complex multi‐gene economically important traits in livestock, double‐muscling in cattle among the best known. Among his present activities is research on the processes of gene mutation and recombination. These processes have a direct impact on phenotypes and traits such as lethality and fertility.

University of Queensland, Australia

Peter Visscher’s undergraduate studies were in the Netherlands. He moved to Edinburgh (UK) 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 (Australia) 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 Institute of Evolutionary Biology of 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 Brisbane (Australia) in 2005 and in 2011 moved to the University of Queensland where he is Professor and Chair of Quantitative Genetics and Director of the Program in Complex Trait Genomics. 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, and on systems genomics.

University of Queensland, Australia

Dr. Koopman was awarded a PhD from the University of Melbourne in 1986, for research in sstem cell differentiation. He undertook two postdoctdoral appointments in London, first at the Medical Research Council’s Mammalian Development Unit, where he conducted a molecular analysis of mouse embryo development. His second postdoc was undertaken at the MRC National Institute for Medical Research, isolating the mouse Y-chromosomal gene Sry and demonstrated its role as the testis-determining gene by reversing the sex of XX transgenic mice. In 1992 he took up a research group leader position at the University of Queensland, Brisbane. From 2007-2012, he was a Federation Fellow of the ARC, and in 2008 was elected a Fellow of the Australian Academy of Science.

Dr.Koopman is in the Division of Genomics of Development and Disease at the Institute for Molecular Bioscience, The University of Queensland, Australia. He was part of the team that discovered the Y-chromosomal sex-determining gene Sry in 1990, recognized as one of the most important breakthroughs in 20th century genetics. He heads a research team whose current work focuses on genes that regulate embryonic development, with special emphasis on the molecular genetics of sex development, fertility, gonadal cancers and intersex conditions.

The Jackson Laboratory, US

Rosenthal’s research uses mammalian genetics to explore the embryonic development of heart and skeletal muscle and the regeneration of adult tissues. She focuses on muscle and cardiac developmental genetics and the role of growth factors, stem cells and the immune system in tissue regeneration.

She is a global leader in the use of targeted mutagenesis in mice to investigate muscle development, disease and repair, and is a participant in EUCOMM, the European Conditional Mouse Mutagenesis Program, where she coordinates the selection and production of new Cre driver strains for the international mouse genetics community.

After earning her Ph.D. in biochemistry at Harvard Medical School, she started collaborating with JAX researchers, developing her longstanding focus on mammalian genetics using the mouse as model. As her career progressed, through faculty appointments at Harvard Medical School and Boston University School of Medicine, Rosenthal’s network with the JAX faculty and Board of Trustees continued to grow.In 2001 Rosenthal moved to Rome to establish the mouse biology program for the European Molecular Biology Laboratory (EMBL).

Oregon Hearing Research Center, US

After receiving her B.S. in Biochemistry at Western Washington University, Teresa Nicolson received her Ph.D. in Biological Chemistry in 1995 from the University of California, Los Angeles. She then trained as a post-doctoral fellow at the Max Planck Institute for Developmental Biology in Tuebingen, Germany. In 1999, Teresa became an independent Group Leader at the same institute. In 2003, she was appointed as an assistant professor to the Oregon Hearing Research Center with a joint appointment in the Vollum Institute. She was promoted to associate professor in 2005 and professor in 2014. Teresa was an HHMI Investigator from 2005 to 2013.

For her graduate thesis work, she received training in basic aspects of cell biology, which was helpful for later studies in zebrafish that included analyses of phenotypes at the molecular and cellular level. As a post-doctoral fellow and later as an independent group leader at the Max-Planck-Institute in Tübingen, Germany, she received training that enabled her to positionally clone genes, and characterize defects in hair-cell morphology and function in zebrafish models of human deafness. During this time, she participated in forward genetic screens that were unprecedented in scale, and collected a large group of mutants that specifically affect auditory/vestibular function in larvae.