Program

As of March 31, 2016- subject to change

Program at a Glance (PDF)

  • April 3(Sun) Download
  • April 4(Mon) Download
  • April 5(Tue) Download
  • April 6(Wed) Download
  • April 7(Thu) Download

Program (PDF)

  • April 3(Sun) Download
  • April 4(Mon) Download
  • April 5(Tue) Download
  • April 6(Wed) Download
  • April 7(Thu) Download

Plenary Lectures

Monday, April 4  10:30-12:00  Main Hall (1F)

Plenary Lecture 1

Chairs:
Helena Kääriäinen Research Professor at National Institute for Health and Welfare, Helsinki; Clinical Geneticist, Finland
Shoji Tsuji Department of Neurology and Medical Genome Center, The University of Tokyo Hospital; Medical Genomics Research Initiative, The University of Tokyo, Japan

Recent Progress in iPS Cell Research and Application

Speaker:
Shinya Yamanaka Center for iPS Cell Research and Application (CiRA), Kyoto University, Japan

Secrets of the Human Genome: The 35-year journey of genomic medicine

Speaker:
Eric S. Lander The Eli and Edythe L. Broad Institute; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA

Wednesday, April 6  8:00-10:00  Main Hall (1F)

Plenary Lecture 2

Chairs:
Nancy J. Cox Vanderbilt University Medical Center, USA
Poh-San Lai National University of Singapore, Singapore

Retinal cell therapy using iPS cells

Speaker:
Masayo Takahasi Center for Developmental Biology, Riken, Japan

Experience from 10.000 diagnostic exomes

Speaker:
Han G. Brunner Radboud UMC, Department of Human Genetics 855, Nijmegen; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, The Netherlands

Genomics View of Neurological Diseases

Speaker:
Shoji Tsuji Department of Neurology and Medical Genome Center, The University of Tokyo Hospital; Medical Genomics Research Initiative, The University of Tokyo, Japan

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Plenary Closing Symposium

Thursday, April 7  15:00-16:30  Main Hall (1F)

New Technology of Single Molecule Genome Sequencing

Chairs:
Shinichi Morishita Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan
Yutaka Suzuki Department of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan

What do you call a complete, contiguous and accurate sequence? A SMRT Sequence!

Speaker:
Stephen Turner Founder and CTO, Pacific Biosciences, Menlo Park, CA, USA

Real time, portable DNA sequencing using nanopore sensing

Speaker:
Clive G. Brown Chief Technology Officer at Oxford Nanopore Technologies Ltd., UK

Single-molecule Electrical Sequencing of DNA, RNA, and Peptide

Speaker:
Tomoji Kawai The Institute of Scientific and Industrial Research, Osaka University, Japan

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Pre-Congress Symposium “Human Genetics on the Globe”

Sunday, April 3  16:00-18:30  Main Hall (1F)

Chair:
Shoji Tsuji Department of Neurology and Medical Genome Center, The University of Tokyo Hospital; Medical Genomics Research Initiative, The University of Tokyo, Japan

DOCUMENTING AND PRESERVING THE HISTORY OF HUMAN GENETICS -WHAT HAVE WE ACHIEVED?

Keynote Speaker:
Peter S. Harper Institute of Medical Genetics, Cardiff University, UK
Chairs:
Yoshimitsu Fukushima Ex-President, The Japan Society of Human Genetics; Professor, Department of Medical Genetics, Shinshu University School of Medicine, Japan
Han G. Brunner Radboud UMC, Department of Human Genetics 855, Nijmegen; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, The Netherlands

The mission of International Federation of Human Genetic Societies

Speaker:
Helena Kääriäinen Research Professor at National Institute for Health and Welfare, Helsinki; Clinical Geneticist, Finland

The American Society of Human Genetics and International Human Genetics

Speaker:
Nancy J. Cox Vanderbilt University Medical Center, USA

Human Genetics in Europe: Exciting history, present fact and future challenges

Speaker:
Feliciano J. Ramos President of European Society of Human Genetics (ESHG), Spain

The Human Genetics Society of Australasia (HGSA) - Current challenges

Speaker:
Eric Haan SA Pathology, Adelaide, Australia

Asia Pacific Society of Human Genetics

Speaker:
Carmencita D. Padilla Department of Pediatrics, College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila; Philippine Genome Center, University of the Philippines System, Philippines

Human Genetics in Latin America

Speaker:
Roberto Giugliani Department of Genetics, Federal University of Rio Grande do Sul (UFRGS)l; Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA); National Institute of Population Medical Genetics (INAGEMP), Brazil

The African Society of Human Genetics

Speaker:
Charles N. Rotimi Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH, USA

Medical Genetics Services in China

Speaker:
Xue Zhang McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China

Human Genetics in Korea as a member of the EAUHGS

Speaker:
Jin-Sung Lee Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea

Human Genetics in Japan

Speaker:
Yoichi Matsubara National Center for Child Health and Development, Japan

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Concurrent Invited Sessions

These 2-hour sessions will feature two conveners and their selected speakers who will discuss the most up-to-date topics in human genetics.

Monday, April 4  13:30-15:30  Annex 1 (1F)

1.
Functional and Computational Genomics
Convenors:
Hiroyuki Aburatani Genome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Japan
Manolis Kellis MIT Computational Biology, USA

Dissecting the circuitry of FTO and adipocyte browning in human obesity

Speaker:
Melina Claussnitzer MIT Computational Biology, USA

Histone Acetylome-wide Association Studies

Speaker:
Shyam Prabhakar Computational and Systems Biology, Genome Institute of Singapore, Singapore

A human variation panel of genetic influences on epigenomes and transcriptomes in three immune cells

Speaker:
Nicole Soranzo Human Genetics, Wellcome Trust Sanger Institute, UK

Integrated genomic analysis of liver cancer progression

Speaker:
Hiroyuki Aburatani Research Center for Advanced Science and Technology, The University of Tokyo, Japan

Monday, April 4  15:50-17:50  Annex 1 (1F)

2.
New Technology: Single Cell Sequencing
Convenors:
Sumio Sugano Department of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan
Stephen Quake Departments of Applied Physics and Bioengineering, Stanford University and Howard Hughes Medical Institute, USA

Highly accurate and precise single-cell sequencing facilitated by microfluidics

Speaker:
Yanyi Huang Biodynamic Optical Imaging Center, Peking University, China

Molecular Anatomy of the Brain by Large-Scale Single-Cell RNA-Seq

Speaker:
Sten Linnarsson Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden

Immunology from the “Bottom-Up” with Single-Cell Genomics

Speaker:
Alex K. Shalek IMES & Chemistry, MIT, Ragon Institute & Broad Institute, USA

Single Cell Genomics

Speaker:
Stephen Quake Departments of Applied Physics and Bioengineering, Stanford University and Howard Hughes Medical Institute, USA

Monday, April 4  13:30-15:30  Annex 2 (1F)

3.
Implementation of Genome Information for Health Care and Drug Discovery
Convenors:
Robyn Ward The University of Queensland, Australia
Geoffrey Ginsburg Duke University, School of Medicine; Pratt School of Engineering, USA

Assessing the value of genomics

Speaker:
Robyn Ward The University of Queensland, Australia

Implementation of Genome Information for Health Care and Drug Discovery

Speaker:
Geoffrey Ginsburg Duke University, School of Medicine; Pratt School of Engineering, USA

The New Era of Drug Discovery: Human Genetics, Data Science & New Modalities

Speaker:
Andrew S. Plump Chief Medical & Scientific Officer, Takeda Pharmaceutical Co., Ltd., USA

Making Discoveries on the 23andMe Platform

Speaker:
Anne Wojcicki 23andMe, USA

Monday, April 4  15:50-17:50  Annex 2 (1F)

4.
Regenerative Medicine
Convenors:
Haruhisa Inoue Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application (CiRA), Kyoto University, Japan
John D. Sinden ReNeuron Limited, UK

Stem cell therapies in Europe: Taking the CTX human neural stem cell product to clinical trials in disabled stroke patients

Speaker:
John D. Sinden ReNeuron Limited, UK

Engineering the Morphogenesis of Pluripotent Stem Cells

Speaker:
Todd C. McDevitt Gladstone Institutes of Cardiovascular Diseases; Bioengineering and Therapeutics at the University of California, San Francisco, USA

Retinal progenitor cells: From bench to clinic

Speaker:
Pert Baranov Schepens Eye Research Institute, Massachusetts Eye & Ear; Department of Ophthalmology, Harvard Medical School, Boston MA, USA

Possible future of regenerative medicine using cell sheet engineering and iPS cell technology

Speaker:
Katsuhisa Matsuura Tokyo Women's Medical University, Japan

Monday, April 4  13:30-15:30  Room A (2F)

5.
Advances in Cancer Genomics
Convenors:
Tatsuhiro Shibata Laboratory of Molecular Medicine & Laboratory of Genome Technology of Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan
David A. Wheeler Human Genome Sequencing Center/ Baylor College of Medicine, USA

Genomic Profiling of a T-cell Leukemia

Speaker:
David A. Wheeler Human Genome Sequencing Center/ Baylor College of Medicine, USA

Genetic and transcriptomic landscape of biliary tract cancer

Speaker:
Tatsuhiro Shibata Laboratory of Molecular Medicine, The Institute of Medical Science, The University of Tokyo; Division of Cancer Genomics, National Cancer Center, Japan

ASIAN CANCER GENOMICS AND ITS CLINICAL IMPLICATIONS

Speaker:
Bin Tean Teh National Cancer Centre Singapore, Singapore

The evolutionary history of prostate cancer from pre-malignant lesion to lethal metastasis

Speaker:
David C. Wedge Cancer Genome Project, Wellcome Trust Sanger Institute, UK

Monday, April 4  15:50-17:50  Room A (2F)

6.
Cancer Genomics: HBOC
Convenors:
Seigo Nakamura Department of Breast Surgical Oncology, Showa University School of Medicine, Japan
Sung-Won Kim Daerim St. Mary’s Hospital, Korea

The current approach for hereditary breast cancer from the aspect of precision medicine in the U.S.

Speaker:
Banu Arun University of Texas MD Anderson Cancer Center, USA

Current Status and Future of Hereditary Breast Cancer in Asia

Speaker:
Ava Kwong Division of Breast Surgery, Department of Surgery, The University of Hong Kong, Hong Kong, China

The current approach for hereditary breast cancer from the aspect of basic science

Speaker:
Soo H. Teo Cancer Research Malaysia; University Malaya Medical Center, Malaysia

Updates of the Korean Hereditary Breast Cancer (KOHBRA) Study

Speaker:
Sung-Won Kim Surgery, Daerim St. Mary’s Hospital, Korea

Monday, April 4  13:30-15:30  Room E (1F)

7.
Human Evolution: Archaic and Modern Humans
Convenors:
Naruya Saitou Division of Population Genetics, National Institute of Genetics, Japan
Mark Stoneking Max Planck Institute for Evolutionary Anthropology, Germany

Population genetic analysis of Negrito populations in Southeast Asia

Speaker:
Timothy A. Jinam Division of Population Genetics, National Institute of Genetics, Japan

Ancient DNA of early modern humans

Speaker:
Qiaomei Fu Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, China

A Genomic Perspective on the Colonization of the Pacific

Speaker:
Mark Stoneking Max Planck Institute for Evolutionary Anthropology, Germany

Formation of Japonesian from viewpoint of modern human dispersal in East Eurasia

Speaker:
Naruya Saitou Division of Population Genetics, National Institute of Genetics; Department of Genetics, SOKENDAI; Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan

Monday, April 4  15:50-17:50  Room E (1F)

8.
Genetics of Recurrent Pregnancy Loss
Convenors:
Mayumi Sugiura-Ogasawara Obstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences; Center for Recurrent Pregnancy Loss, Japan
Mary D. Stephenson Department of Obstetrics and Gynecology, University of Illinois at Chicago, USA

Miscarriage chromosome testing: Conventional cytogenetic analysis vs. molecular

Speaker:
Evica Rajcan-Separovic Department of Pathology, University of British Columbia, Canada

Recurrent Pregnancy Loss: Miscarriage and Parental Chromosome Testing

Speaker:
Mary D. Stephenson Department of Obstetrics and Gynecology, University of Illinois at Chicago, USA

Can PGS/PGD improve live birth rate in RPL?

Speaker:
Ruth B. Lathi Department of Reproductive Rndocrinology and Infertility, Stanford University, USA

Candidate genes associated with recurrent pregnancy loss

Speaker:
Mayumi Sugiura-Ogasawara Obstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences; Center for Recurrent Pregnancy Loss, Japan

Monday, April 4  13:30-15:30  Room B-1 (2F)

9.
Clinical Genetics and Dysmorphology
Convenors:
Hiroshi Kawame Department of Education and Training, Tohoku University, Japan
Louanne Hudgins Pediatrics/Medical Genetics, Stanford University School of Medicine, USA

Prenatal Presentation of Genetic Disorders

Speaker:
Louanne Hudgins Pediatrics/Medical Genetics, Stanford University School of Medicine, USA

Next Generation Sequencing demands Next Generation Phenotyping

Speaker:
Raoul C. Hennekam Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands

Primary microcephalies and primordial microcephalic dwarfisms

Speaker:
Alain Verloes Dept of Genetics, Robert DEBRE Univerity Hospital, Sorbonne Paris-Cité University Denis Diderot Medical School and INSERM UM1141, Paris, France

From dysmorphology to human biology: A lesson from the discovery of Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency

Speaker:
Tomoki Kosho Medical Genetics, Shinshu University School of Medicine, Japan

Monday, April 4  15:50-17:50  Room B-1 (2F)

10.
Human Genomics in Infectious Diseases
Convenors:
Katsushi Tokunaga Department of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan
Adrian V.S. Hill Director of Jenner Institute & Wellcome Trust Centre for Human Genetics, University of Oxford, UK

Genetic Susceptibility to some Common Bacterial Diseases of Humans

Speaker:
Adrian V.S. Hill Wellcome Trust Centre for Human Genetics, Oxford University, UK

Immunogenetic Factors that Impact the Course of HIV infection

Speaker:
Mary Carrington Cancer and Inflammation Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, USA

Genetic Study of Leprosy in Chinese Population: Susceptibility and Treatment Response

Speaker:
Jianjun Liu Human Genetics, Genome Institute of Singapore, Singapore

Genomic approaches to hepatitis B virus related diseases

Speaker:
Katsushi Tokunaga Department of Human Genetics, The University of Tokyo Graduate School of Medicine, Japan

Tuesday, April 5  8:00-10:00  Annex 1 (1F)

11.
Frontiers of Human Genomics
Convenors:
Shinichi Morishita Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, the University of Tokyo, Japan
Jun Wang iCarbonX, China

Million Genomes Ahead

Speaker:
Jun Wang iCarbonX, China

New human genome reference structures

Speaker:
Richard Durbin Wellcome Trust Sanger Institute, UK

Reading and Writing Genomes in 3D: The CTCF code and how to hack it

Speaker:
Erez Lieberman Aiden Molecular & Human Genetics, Baylor College of Medicine, USA

An ‘omic checkup: longitudinal multi-omics for personalized medicine

Speaker:
Brian D. Piening Genetics, Stanford University, USA

Tuesday, April 5  10:20-12:20  Annex 1 (1F)

12.
Variations in Genome Structure
Convenors:
Hiroki Kurahashi Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan
Wigard P. Kloosterman Dept. of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, The Netherlands

Somatic mosaicism - how much of de novo is mitotic?

Speaker:
Pawel Stankiewicz Molecular & Human Genetics, Baylor College of Medicine, USA
Institute of Mother and Child, Warsaw, Poland

Palindrome-mediated recurrent translocations in humans

Speaker:
Hiroki Kurahashi Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Japan

Detection and interpretation of complex structural variations in human genomes

Speaker:
Wigard Kloosterman Dept. of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, The Netherlands

Genome-first detection of variation with single-molecule sequencing

Speaker:
Mark J.P. Chaisson Genome Sciences, University of Washington, USA

Tuesday, April 5  8:00-10:00  Annex 2 (1F)

13.
Complex Trait Diseases 1: Common Disease
Convenors:
Michiaki Kubo Laboratory for Genotyping Development, Center for Integrative Medical Sciences, RIKEN, Japan
Anne M. Bowcock National Heart and Lung Institute, Imperial College, London, UK

Statistical Genetics for Autoimmune Diseases and Drug Discovery

Speaker:
Yukinori Okada Department of Human Genetics and Disease Diversity, Tokyo Medical and Dental University; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Japan

DRIVER GENES OF ORAL CANCER, ITS PROGRESSION AND METASTASIS

Speaker:
Partha P. Majumder National Institute of Biomedical Genomics, India

Transcriptome landscape of chronic traumatic encephalopathy and Alzheimer disease in human brains

Speaker:
Jeong-Sun Seo Genomic Medicine Institute, Seoul National University, Korea

Genetic analysis of psoriasis and psoriatic arthritis

Speaker:
Anne M. Bowcock National Heart and Lung Institute, Imperial College, London, UK

Tuesday, April 5  10:20-12:20   Annex 2 (1F)

14.
Complex Trait Diseases 2: Autoimmune Diseases
Convenors:
Kazuhiko Yamamoto Department of Allergy and Rheumatology, Graduate School of Medicine, University of Tokyo, Japan
Soumya Raychaudhuri Medicine, Harvard Medical School, Divisions of Genetics and Rheumatology, Brigham and Women's Hospital; Medical and Population Genetics, Broad Institute; Institute of Inflammation and Repair, University of Manchester; Department of Medicine, Karolinska Institutet, USA

Fine-mapping the HLA and other autoimmune loci

Speaker:
Soumya Raychaudhuri Medicine, Harvard Medical School, Divisions of Genetics and Rheumatology, Brigham and Women's Hospital; Medical and Population Genetics, Broad Institute; Institute of Inflammation and Repair, University of Manchester; Department of Medicine, Karolinska Institutet, USA

GWAS and functional genomics of autoimmune diseases

Speaker:
Yuta Kochi Laboratory for Autoimmune Diseases, IMS, RIKEN, Japan

Combining population and clinical biobanks to translate genetic variation into immune function

Speaker:
Cisca Wijmenga Genetics, University Medical Center Groningen, Netherlands

Transcriptome variation in human immunity

Speaker:
Barbara E. Stranger Section to Genetic Medicine, University of Chicago, USA

Tuesday, April 5  8:00-10:00  Room A (2F)

15.
Therapy for Genetic Diseases
Convenors:
Eiji Nanba Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
Jeffery W. Kelly Molecular And Experimental Medicine, The Scripps Research Institute; The Skaggs Institute for Chemical Biology, The Scripps Research Institute, USA

Understanding the Genetics and Biochemistry of the Transthyretin Amyloid Diseases Afforded a Disease-Modifying Therapy, and Importantly, New Insights about Chaperone Function

Speaker:
Jeffery W. Kelly Molecular And Experimental Medicine, The Scripps Research Institute; The Skaggs Institute for Chemical Biology, The Scripps Research Institute, USA

AUTOPHAGY AND OTHER PATHWAYS THAT PROTECT AGAINST NEURODEGENERATION

Speaker:
David C. Rubinsztein Cambridge Institute for Medical Research, University of Cambridge, UK

Treatment of Friedreich’s ataxia and mitochondrial diseases

Speaker:
Jeanne Amiel Institute Imagine and University Paris Descartes, Paris, France

Chaperone therapy for lysosomal storage diseases

Speaker:
Katsumi Higaki Research Center for Bioscience and Technology, Tottori University, Japan

Tuesday, April 5  10:20 -12:20  Room A (2F)

16.
Gene Therapy
Convenors:
Keiya Ozawa Division of Genetic Therapeutics, The Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo, Japan
Michel Sadelain Center for Cell Engineering, Memorial Sloan Kettering Cancer Center, New York, USA

Haematopoietic stem cell- and liver-targeted gene therapy for hereditary disease

Speaker:
Ian E. Alexander Gene Therapy Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute; University of Sydney Medical School, Australia

AAV (adeno-associated virus) vector-mediated gene therapy for hereditary and non-hereditory diseases

Speaker:
Keiya Ozawa Division of Genetic Therapeutics, The Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo, Japan

Gene editing - from modeling diseases to treating patients

Speaker:
Toni Cathomen Institute for Cell and Gene Therapy, Medical Center - University of Freiburg, Germany

CAR Therapy: The CD19 Paradigm

Speaker:
Michel Sadelain Center for Cell Engineering, Memorial Sloan Kettering Cancer Center, New York, USA

Tuesday, April 5  8:00-10:00  Room E (1F)

17.
ELSI
Convenors:
Masayuki Yoshida Department of Life Science and Bioethics, Tokyo Medical and Dental University, Japan
Dina N. Paltoo Genetics, Health and Society Program, Office of Science Policy/National Institute of Health, USA

Patient Preferences for Governance of Use of Genomic Information in Research

Speaker:
Sandra S. Lee Stanford Center for Biomedical Ethics, Stanford University, USA

Given a Voice: An Update on the Lacks Family-NIH Partnership on Use of HeLa Genome Data

Speaker:
Dina N. Paltoo Genetics, Health and Society Program, Office of Science Policy/National Institute of Health, USA

ELSI practices and regulations for collaboration and public participation in personal genome research

Speaker:
Kazuto Kato Biomedical Ethics and Public Policy, Osaka University, Japan

Ethical theory and global challenges in the era of -omics and predictive medicine

Speaker:
Ruth F. Chadwick Centre for Social Ethics and Policy, University of Manchester, UK

Ethical and Policy Issues in Human Genome Editing and Germline Modifications

Speaker:
Xiaomei Zhai Peking Union Medical College and Chinese Academy of Medical Sciences, China

Tuesday, April 5  10:20-12:20  Room E (1F)

18.
Genetic Counseling/Education
Convenors:
Kristine Barlow-Stewart Sydney Medical School, The University of Sydney; Royal North Shore Hospital, Australia
Junko Yotsumoto Natural Science Division, Faculty of Core Research, Ochanomizu University; Showa University, Japan

Introduction and brief overview of genetic counselling in Japan - Role and training of genetic counselors, and a topic, “dealing with BRCA VUS in Japan”

Speaker:
Junko Yotsumoto Natural Science Division, Faculty of Core Research, Ochanomizu University; Showa University, Japan

Genetic Education Strategies to Enhance the Genetic Counselling process in the Genomic Era

Speaker:
Kristine K. Barlow-Stewart Sydney Medical School, The University of Sydney; Royal North Shore Hospital, Australia

Genetic counselors’ experiences obtaining informed consent for genomic sequencing: Lessons learned

Speaker:
Barbara A. Bernhardt Translational Medicine and Human Genetics, University of Pennsylvania, USA

Engaging 7,000 people about the return of results from sequencing research

Speaker:
Anna Middleton Social Science and Ethics, Wellcome Genome Campus, UK

Genetic Counselling and hereditary testing in low and middle income Asian setting

Speaker:
Sook Yee Yoon Familial Cancer, Cancer Research Malaysia, Malaysia

Tuesday, April 5  8:00-10:00  Room B-1 (2F)

19.
Psychiatric Genetics
Convenors:
Norio Ozaki Department of Psychiatry, Nagoya University Graduate School of Medicine, Japan
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai, USA

Rare and common variation in autism and associated neurodevelopment disorders

Speaker:
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai, USA

Genetics of schizophrenia and bipolar disorder

Speaker:
Michael J. Owen MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK

Shared Genetic Risk Across Psychiatric Disorders

Speaker:
Naomi R. Wray Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia

Pharmacogenomics in Psychiatry

Speaker:
Masashi Ikeda Psychiatry, Fujita Health University School of Medicine, Japan

Tuesday, April 5  10:20 -12:20  Room B-1 (2F)

20.
Neurogenetics and Neurodegeneration
Convenors:
Tatsushi Toda Division of Neurology, Kobe University Graduate School of Medicine, Japan
Bryan J. Traynor Laboratory of Neurogenetics, National Institute on Aging, USA

Molecular genetic basis of multiple system atrophy

Speaker:
Jun Mitsui Neurology, The University of Tokyo, Japan

Genetics of Parkinson’s Disease

Speaker:
Tatsushi Toda Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Japan

Genetics of mitochondrial diseases

Speaker:
Patrick F. Chinnery University of Cambridge, UK
MRC Mitochondrial Biology Unit

Genomics of amyotrophic lateral sclerosis and frontotemporal dementia

Speaker:
Bryan J. Traynor Laboratory of Neurogenetics, National Institute on Aging, USA

Wednesday, April 6  10:15-12:15  Annex 1 (1F)

21.
NGS Dissecting Human Genetic Diseases
Convenors:
Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Xue Zhang McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China

Next Generation Sequencing dissecting human “genetic” diseases

Speaker:
Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

Exome analysis of autosomal recessive disorders

Speaker:
Fowzan S. Alkuraya Genetics, King Faisal Specialist Hospital and Research Center, Saudi Arabia

PhenoDB and GeneMatcher, solving unsolved whole exome data

Speaker:
Nara Lygia M. Sobreira McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, USA

Understanding the causes of inherited rare diseases

Speaker:
William Newman Manchester Centre for Genomic Medicine, University of Manchester, UK

Wednesday, April 6  10:15-12:15  Annex 2 (1F)

22.
Epigenetic Inheritance and Reprogramming in Biology and Disease
Convenors:
Hiroyuki Sasaki Medical Institute of Bioregulation, Kyushu University, Japan
Anne Ferguson-Smith Department of Genetics, University of Cambridge, UK

Epigenetic regulation of gene expression network in human germline cells

Speaker:
Fuchou Tang BIOPIC, College of Life Sciences, Peking University, China

Incomplete reprogramming of germline DNA methylation in the human placenta

Speaker:
Hiroyuki Sasaki Medical Institute of Bioregulation, Kyushu University, Japan

Kagami-Ogata syndrome: Clinically recognizable imprinting disorder caused by upd(14)pat and related condition

Speaker:
Masayo Kagami Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan

Establishment and maintenance of stable and variable epigenetic states in mammals

Speaker:
Anne Ferguson-Smith Department of Genetics, University of Cambridge, UK

Wednesday, April 6  10:15-12:15  Room A (2F)

23.
Pharmacogenomics
Convenors:
Taisei Mushiroda Research Group for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Japan
Munir Pirmohamed Department of Molecular and Clinical Pharmacology, University of Liverpool, UK

Prediction of severe adverse drug reactions using pharmacogenomic biomarkers: Current status and future prospects in Japan

Speaker:
Yoshiro Saito Medicinal Safety Science, National Institute of Health Sciences, Japan

Genomic Diversity of African populations and pharmacogenomics in the safe and efficacious use of efavirenz in the treatment of HIV/AIDS

Speaker:
Collen Masimirembwa African Institute of Biomedical Science and Technology, Zimbabwe

Move Pharmacogenomics Discovery to Medical Practice

Speaker:
Yuan-Tsong Chen Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Department of Pediatrics, Duke University, Durham, NC, USA

Pharmacogenomics: The long journey from discovery to implementation

Speaker:
Munir Pirmohamed Department of Molecular and Clinical Pharmacology, University of Liverpool, UK

Wednesday, April 6  10:15-12:15  Room E (1F)

24.
The new world of RNA biology: Emerging roles of IncRNAs and RNA modifications
Convenors:
Yukio Kawahara Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University, Japan
Marcel Dinger Kinghorn Centre for Clinical Genomics (KCCG) and St Vincent's Clinical School, Faculty of Medicine, UNSW, Australia

Journeys through Space and Time: Ultra High-Resolution Expression Profiling of Long Noncoding RNAs

Speaker:
Marcel Dinger Kinghorn Centre for Clinical Genomics (KCCG) and St Vincent's Clinical School, Faculty of Medicine, UNSW, Australia

Primate-specific A-to-I RNA editing shapes the transcriptome

Speaker:
Marie Öhman Dept. of Molecular Biosciences, The WennerGren Institute, Stockholm University, Sweden

The expanding landscape of mRNA methylation

Speaker:
Gideon Rechavi Cancer Research Center, Sheba Medical Center Tel Aviv University, Israel

Role of RNA modification in cognition and memory

Speaker:
Timothy Bredy University of California Irvine, USA

Thursday, April 7  12:45-14:45  Annex 1 (1F)

25.
Databases and Data Sharing for Cross-border Genomics
Convenors:
Yasukazu Nakamura Genome Informatics Laboratory, National Institute of Genetics, Japan
Guy Cochrane European Nucleotide Archive/European Bioinformatics Institute (EMBL-EBI), UK

Data coordination in cross-border genomics: A very human challenges

Speaker:
Guy Cochrane European Nucleotide Archive/European Bioinformatics institute (EMBL-EBI), UK

Genome graphs: A new kind of reference from human genetic variation

Speaker:
David Haussler University of California Santa Cruse, Genomics Institute, The Global Alliance for Genomics and Health, USA

The 100,000 Genome Project, UK

Speaker:
Mark J. Caulfield William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary, UK

The Human Phenotype Ontology: A Resource for Clinical Data Sharing and Phenotype-Driven Genomic Diagnostics

Speaker:
Peter N. Robinson Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin; Free University Berlin; Berlin-Brandenburg Center for Regenerative Therapy; Max Planck Institute for Molecular Genetics, Germany

Thursday, April 7  12:45-14:45  Annex 2 (1F)

26.
Clinical Sequencing
Convenors:
Kenjiro Kosaki Center for Medical Genetics, Keio University School of Medicine, Japan
Leslie G. Biesecker National Human Genome Research Institute, National Institute of Health, USA

A technology driven approach toward deriving high resolution human genome reference materials and the future of niche NGS diagnostic assays

Speaker:
Robert Sebra Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA

Towards single-test genomics

Speaker:
Joris A. Veltman Department of Human Genetics, Radboud University Medical Center; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands

Hypothesis-generating research and predictive genomics

Speaker:
Leslie G. Biesecker National Human Genome Research Institute, National Institute of Health, USA

Genome-scale sequencing in clinical settings

Speaker:
Kenjiro Kosaki Center for Medical Genetics, Keio University School of Medicine, Japan

Thursday, April 7  12:45-14:45  Room A (2F)

27.
Effects of Genetic and Epigenetics, Geno-environmental Interactions on Healthy Aging and Longevity
Convenors:
Yi Zeng Center for the Study of Aging and Human Development, Medical School of Duke University, Durham, NC, USA; Center for Healthy Aging and Development Studies, National School of Development, Peking University, Beijing, China, China/USA
Makoto Suzuki Okinawa Research Center for Longevity Science, Japan

Genetic studies of the oldest old: Somatic and germline variation

Speaker:
Eline Slagboom Molecular Epidemiology Section, Department of Medical Statistics and Bioinfomatics, Leiden University Medical Centre, The Netherlands

Energy Sensing Genes and Longevity: Novel Findings from Multi-Ethic Populations

Speaker:
Bradley J. Willcox and D. Craig Willcox
  Department of Geriatric Medicine / Department of Research, University of Hawaii / Kuakini Medical Center, USA

Meta-analysis of 4 genome-wide association studies identify new longevity genes

Speaker:
Paola Sebastiani and Thomas Perls
  Department of Biostatistics, Boston University, USA

Associations of novel loci, pathway-specific polygenic scores and GxE interactions with longevity and cognition in Han Chinese

Speaker:
Yi Zeng Center for the Study of Aging and Human Development, Medical School of Duke University USA; Center for Healthy Aging and Development Studies, National School of Development, Peking University, Beijing, China

Thursday, April 7  12:45-14:45  Room E (1F)

28.
Current Aspects of Inborn Error of Metabolism
Convenors:
Shigeo Kure Department of Pediatrics, Tohoku University School of Medicine, Japan
Wuh-Liang Hwu Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taiwan

Novel mitochondrial diseases identified by NGS

Speaker:
David R. Thorburn Genetics, Murdoch Childrens Research Institute; University of Melbourne, Dept of Paediatrics; Victorian Clinical Genetics Services, Australia

Current topics in inborn errors of amino acid metabolism

Speaker:
Henk Blom Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Netherlands

Clinical and molecular spectrum of Wilson disease (WD) patients with understanding of molecular pathophysiology of WD in animal model, Long-Evans Cinnamon rats

Speaker:
Han-Wook Yoo Pediatrics & Medical Genetics, Asan Medical Center Childrens Hospital, University of Ulsan College of Medicine, Korea

Gene therapy for aromatic L-amino acid decarboxylase (AADC) deficiency

Speaker:
Wuh-Liang Hwu Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taiwan

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Workshops

Tuesday, April 5  13:50-15:20  Room A (2F)

1.
Global Data Sharing in Human Genetics
Moderators:
Sharon F. Terry President and CEO
Genetic Alliance, USA
Kazuto Kato Graduate School of Medicine, Osaka University, Japan

Global Genomic Data Sharing for Health: A Human Rights Approach

Speaker:
Bartha M. Knoppers Human Genetics, McGill University, Centre of Genomics and Policy, Canada

North-South inequities in global sharing of human genetic data

Speaker:
Victor B. Penchaszadeh Latin American Bioethics Network, Argentina

How Global is "Global Data sharing"

Speaker:
Charles N. Rotimi Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH, USA

Sharing Big Data: A Personal Perspective from a Developing Nation

Speaker:
Partha Majumder National Institute of Biomedical Genomics, India

Wednesday, April 6  15:00-18:15  Room B-1 (2F)

2.
Human Genetics in the Global Health Service: Genetics and Genomics in Developing Countries (2 sessions)

Part 1

Moderator:
Aida B. Falcón de Vargas Venezuelan Central University, Venezuela

Global Genetics Services in a University-affiliated Hospital in Madrid, Spain

Speaker:
Pablo Lapunzina INGEMM-Instituto de Genética Médica y Molecular-, Hospital Universitario La Paz; IdiPAZ-Instituto de Investigación del Hospital Universitario La Paz; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Spain

Genetic Services and Public Policies in Brazil

Speaker:
Ida Vanessa Doederlein Schwartz
  Federal University of Rio Grande Do Sul, Brazil

Genetics and Genomics in Mexico

Speaker:
Augusto Rojas-Martinez Centro De Investigacion Y Desarrollo En Ciencias De La Salud, Universidad Autonoma De Nuevo Leon, Mexico

How can genomics contribute to population health in developing countries? A public health perspective from Latin America

Speaker:
Victor B. Penchaszadeh Latin American Bioethics Network, Argentina

Human Genetics in the Global Health Service
Genetics and Genomics in Developing Countries
LATIN AMERICAN REGION

Speaker:
Aida B. Falcón de Vargas Clinical Genetics Unit, Hospital Vargas de Caracas, Escuela de Medicina JM Vargas, Universidad Central de Venezuela. Hospital de Clinicas Caracas, Venezuela

Part 2

Moderators:
Aida B. Falcón de Vargas Venezuelan Central University, Venezuela
Raj Ramesar MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town and Affiliated Hospitals, South Africa

Genetic Services in Mainland China, Taiwan, Hong Kong and Macau

Speaker:
Stephen T.S. Lam Faculty of Medicine, The Chinese University of Hong Kong, China

Evolution of Medical Genetics to Genomic Medicine Services: The Situation in South Africa

Speaker:
Raj Ramesar MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular Medicine, University of Cape Town and Affiliated Hospitals, South Africa

Genetic Services in the Philippines

Speaker:
Carmencita D. Padilla Department of Pediatrics, College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila; Philippine Genome Center, University of the Philippines System, Philippines

Genetics and Genomics: The Collaboration between Belgium and The Democratic Republic of Congo

Speaker:
Thomy JL de Ravel Centre for Human Genetics, University Hospitals Leuven, KU Leuven, Belgium

Genetics and genomic in developing countries: the Malaysian experience

Speaker:
Zilfalil Alwi Universiti Sains Malaysia, Malaysia

GENOMIC CHALLENGES AND INITIATIVES IN THE FAST EMERGING ECONOMY OF INDIA-A PARADIGM FOR THE DEVELOPING COUNTRIES

Speaker:
Dhavendra Kumar Institute of Cancer & Genetics, University Hospital of Wales, Cardiff, UK; Genomin Policy Unit, University of South Wales, Pontypridd, UK; The Genome Medicine Foundation, Cardiff, UK

Wednesday, April 6  15:00-16:30  Room C-2 (1F)

3.
Current Issues of Medical Genetics in Asia
Moderators:
Poh-San Lai National University of Singapore, Singapore
Jin-Sung Lee Department of Clinical Genetics, Yonsei University College of Medicine, Korea

Genomic Medicine and Medical Genetics Service in Vietnam

Speaker:
Vu Chi Dũng Department of Medical Genetics, Metabolism and Endocrinology, National Hospital of Pediatrics, Hanoi, Vietnam

National genetic screening and molecular testing program in Thailand

Speaker:
Suthat Fucharoen Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya Campus, Nakornpathom, Thailand

Medical genetics services in Malaysia: Challenges and the way forward

Speaker:
Meow-Keong Thong Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Genetic Testing in China

Speaker:
Xue Zhang McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China

Basic and Expanded Newborn Screening: Setting the Stage for Low Income and Middle Income Countries

Speaker:
Carmencita D. Padilla Department of Pediatrics,College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila; Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Philippines

Clinical Genetics in Japan

Speaker:
Yoshimitsu Fukushima Ex-President, The Japan Society of Human Genetics; Professor, Department of Medical Genetics, Shinshu University School of Medicine, Japan

Wednesday, April 6  16:45-18:15  Room C-2 (1F)

4.
HUGO-PAPGI (Pan-Asian Population Genomics Initiative)
Moderators:
Sumio Sugano Department of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Japan
Poh-San Lai National University of Singapore, Singapore

HUGO-PAPGI (Pan Asian Population Genomics Initiative) update

Speaker:
Jong Bhak Bioengineering, UNIST, Korea

Spatially explicit models and whole genome analysis for reconstructing the colonisation of Asia

Speaker:
Anders Eriksson Integrative Systems Biology Lab, Division of Biological and Environmental Sciences & Engineering, King Abdullah University of Science and Technology, Saudi Arabia

Population structure and admixture history of East Asian populations

Speaker:
Shuhua Xu CAS-MPG Partner Institute for Computational Biology (PICB), China

Genomic analyses reveal insights into indigenous diversity and divergence in South East Asia

Speaker:
Maude Phipps Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia

Complete sequencing and characterization of three human genomes from Indian subcontinent

Speaker:
Harish Padh Sardar Patel University, India

Search for disease-associated genes by ethnic specific SNP array and genome-wide imputation based on large-scale whole-genome sequencing: Application to cold medicine related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC)

Speaker:
Katsushi Tokunaga Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan

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Special Focus Session

1.
GA4GH, IRDiRC, and Matchmaker Exchange

Wednesday, April 6  15:00-16:30  Annex 1 (1F)

IRDiRC and Matchmaker Exchange

Moderator:
Paul Lasko Former Chair of the IRDiRC Executive Committee; Department of Biology, McGill University, Canada

IRDiRC in its fifth year: A progress report

Speaker:
Paul Lasko Former Chair of the IRDiRC Executive Committee; Department of Biology, McGill University, Canada

The National Institutes of Health Undiagnosed Diseases Program and Undiagnosed Diseases Network

Speaker:
David R. Adams Uniagnosed Diseases Program, NIH, USA

Japan Agency for Medical Research and Development (AMED), Rare/Intractable Disease Project, and Initiative on Rare and Undiagnosed Diseases (IRUD)

Speaker:
Shigeki Kuzuhara Suzuka University of Medical Science, Graduate School of Health Science, Japan

New Trends and Novel Technologies in Orphan Drug Development

Speaker:
Carlo Incerti Global Medical Affairs, Sanofi Genzyme, USA

If you are not at the table, you are on the menu

Speaker:
Sharon F. Terry President and CEO, Genetic Alliance, USA

- IRDiRC-GA4GH Collaboration: Matchmaker Exchange -

Linking International Datasets to Enable Rare Disease Gene Discovery

Speaker:
Han G. Brunner Radboud University Nijmegen Medical Centre, the Netherlands

The challenges and opportunities of connecting different database

Speaker:
Nara Lygia M. Sobreira John Hopkins University School of Medicine, USA

Wednesday, April 6  16:45-18:15  Annex 1 (1F)

The Global Alliance for Genomics and Health

Moderator:
Peter Goodhand Global Alliance for Genomics and Health (Executive Director), Canada

-IRDiRC-GA4GH Collaboration-

Automatable Discovery and Access Task Team

Speaker:
Clara Gaff Melbourne Genomics Health Alliance, Australia

GA4GH Overview

Speaker:
Tom Hudson Global Alliance for Genomics and Health (Chair, Steering Committee); Ontario Institute for Cancer Research, Canada

-GA4GH Working Groups: Developing Tools and Solutions for Data Sharing-

Clinical Genomic Data Sharing

Speaker:
Kathryn North Murdoch Childrens Research Institute, Australia

Family History Collection

Speaker:
Ingrid M. Winship Royal Melbourne Hospital; University of Melbourne, Australia

Genomic Data Sharing Enablers

Speaker:
David Haussler University of California Santa Cruz, USA

Regulatory and Ethics Working Group

Speaker:
Kazuto Kato Osaka University, Japan

-GA4GH Demonstration Projects: Data Shared and Lessons Learned-

The Beacon Project

Speaker:
Marc Fiume DNAStack, Canada

Collaborative Ethics and Governance: From Data Sensitivity to Data Access

Speaker:
Stephanie Dyke Centre of Genomics and Policy, McGill University, Canada

The BRCA Challenge

Speaker:
John Burn Institute of Genetic Medicine Newcastle University Centre for Life, UK

Public Access Variant Data: Liability?

Speaker:
Adrian Thorogood Centre of Genomics and Policy, McGill University, Canada

Wednesday, April 6  15:00-16:30  Annex 2 (1F)

2.
Genetics and Genomics in Diabetes and Metabolic Diseases
Moderators:
Mark I. McCarthy OCDEM, University of Oxford, UK; Wellcome Trust Centre for Human Genetics, University of Oxford
Takashi Kadowaki Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Japan

Genetics in T2D

Speaker:
Torben Hansen The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark

Regulatory Variants and Human Diseases

Speaker:
Marcelo Nobrega University of Chicago, USA

From p-values to proteins: understanding the biology of diabetes and diabetic complications using human genetics and genomics

Speaker:
Mark I. McCarthy OCDEM, University of Oxford, UK
Wellcome Trust Centre for Human Genetics, University of Oxford

Type 2 Diabetes: from genes to therapies

Speaker:
Takashi Kadowaki Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Japan

Wednesday, April 6  16:45-18:15  Annex 2 (1F)

3.
Genetics of Deafness
Moderators:
Shin-ichi Usami Department of Otorhinolaryngology, Shinshu University School of Medicine, Japan
Guy Van Camp Department of Medical Genetics, University of Antwerp, Belgium

Massively parallel DNA sequencing for deafness applied to social health insurance-based genetic testing

Speaker:
Shin-ichi Usami Department of Otorhinolaryngology, Shinshu University School of Medicine, Japan

Diagnostic applications of deafness research in Europe

Speaker:
Guy Van Camp Department of Medical Genetics, University of Antwerp, Belgium

Genomics of Hereditary Deafness

Speaker:
Karen B. Avraham Tel Aviv University, Israel

Clinical applications of genetic studies for deafness

Speaker:
Chen-Chi Wu Department of Otolaryngology, National Taiwan University Hospital; Department of Medical Genetics, National Taiwan University Hospital, Taiwan

Wednesday, April 6  15:00-16:30  Room A (2F)

4.
Integration of Genomic Information and Electric Health Record Systems
Moderators:
Catherine A. Wicklund Center for Genetic Medicine, Northwestern University, USA
Hiroshi Tanaka Tokyo Medical and Dental University, Japan
Panelists:
Catherine A. Wicklund Center for Genetic Medicine, Northwestern University, USA
Hiroshi Tanaka Tokyo Medical and Dental University, Japan
Abel Kho Northwestern University, USA

Wednesday, April 6  16:45-18:15  Room A (2F)

5.
IGEN: Do they know what you think they know? Development and evaluation of health professional education in genetics and genomics
Moderators:
Vajira Dissanayake Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka
Akihiro Sakurai Department of Medical Genetics, Sapporo Medical University, Japan

How program evaluation can be applied to genomics education of health professionals

Speaker:
Sylvia Metcalfe Genetics Education and Health Research, Genetics Theme; Murdoch Childrens Research Institute - The Royal Children's Hospital, Australia

Knowledge translation

Speaker:
June C. Carroll Department of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Granovsky Gluskin Family Medicine Centre, Canada

A national coordinated approach to workforce transformation

Speaker:
Michelle Bishop Genomics Education Programme, Health Education England, Birmingham, UK

Telemedicine in the education of health professionals: sickle cell disease as an exemplar

Speaker:
Kunal Sanghavi McKusick-Nathans Institute of Genetic Medicine - Johns Hopkins University - School of Medicine, Baltimore, MD, USA; New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), Baltimore, Maryland, USA

Application of evidence-based educational practices

Speaker:
Michael J. Dougherty American Society of Human Genetics, USA

Wednesday, April 6  15:00-16:30  Room E (1F)

6.
Cardiac Genetics
Moderators:
Julie McGaughran Genetic Health Queensland, Australia
Euan Ashley Medicine/Cardiovascular Medicine and Genetics, Stanford University, USA

Cardiovascular Precision Medicine

Speaker:
Euan Ashley Medicine/Cardiovascular Medicine and Genetics, Stanford University, USA

Successes and Challenges from the Cardiac Genetics Clinic

Speaker:
Julie McGaughran Genetic Health Queensland, Australia

From Mendelian syndromes to blockbuster drugs: the PCSK9 story

Speaker:
Catherine Boileau Institut National de la Santé et de la Recherche Médicale (INSERM) U698, Hôpital Bichat, France

Genetics of long QT syndrome

Speaker:
Wataru Shimizu Department of Cardiovascular Medicine, Nippon Medical School, Japan

Wednesday, April 6  16:45-18:15  Room E (1F)

7.
Genetics of Skin Diseases
Moderators:
Masashi Akiyama Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Vinzenz Oji Department of Dermatology, University Hospital Münster, Münster, Germany

Keratinization disorders

Speakers:
Vinzenz Oji Department of Dermatology, University Hospital Münster, Münster, Germany

Mutational analysis of dystrophic epidermolysis bullosa

Speakers:
Eijiro Akasaka Dermatology, Hirosaki University Graduate School of Medicine, Japan

Vascular malformations: From diagnosis to therapy

Speakers:
Miikka Vikkula Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint Luc, Brussels; Walloon Excellence in Lifesciences and Biotechnology WELBIO, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium

Genetic background of generalized pustular psoriasis

Speakers:
Kazumitsu Sugiura Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan

Wednesday, April 6  15:00-16:30   Room B-2 (2F)

8.
Genetics of Eye Diseases
Moderators:
Takeshi Iwata National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan
Rando Allikmets Ophthalmology, Columbia University; Pathology & Cell Biology, Columbia University, New York, USA

Finding new genes for syndromic retinitis pigmentosa by next-generation sequencing

Speaker:
Rando Allikmets Ophthalmology, Columbia University; Pathology & Cell Biology, Columbia University, New York, USA

Genetic study on early onset high myopia: A story from whole exome sequencing on 298 probands

Speaker:
Qingjiong Zhang Zhongshan Ophthalmic Center, Sun Yat-sen University, China

Investigating gene-gene interactions in AMD to better understand disease

Speaker:
Paul N. Baird Centre for Eye Research Australia, University of Melbourne, Australia

Genes and molecular mechanisms of hereditary retinal diseases in Japanese population

Speaker:
Takeshi Iwata National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan

Wednesday, April 6  16:45-18:15  Room B-2 (2F)

9.
Genetics of Skeletal Diseases
Moderator:
Shiro Ikegawa Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Science, Japan

Phenotypic Variations in Congenital Limb Malformations

Speaker:
Xue Zhang McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, China

The Genetic Research on OA: Goals and Challenges of the Translational Research

Speaker:
Qing Jiang Joint Surgery, Drum Tower Hospital, China

Treatment strategies for short stature in achondroplasia

Speaker:
Hiroshi Kitoh Orthopaedic Surgery, Nagoya University, Japan

Use of induced pluripotent stem cell technologies in disease modeling of skeletal dysplasia

Speaker:
Noriyuki Tsumaki Dept. of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Japan

Wednesday, April 6  15:00-16:30  Room C-1 (1F)

10.
Genetics of Kidney Diseases
Moderator:
Kazushige Hanaoka Internal Medicine, Division of Nephrology and Hypertension, The Jikei University, School of Medicine, Japan

Recent advancement of genetics and therapy in renal genetic diseases

Speaker:
Koichi Nakanishi Pediatrics, Wakayama Medical University, Japan

Genetics and pathophysiology in Fabry nephropathy

Speaker:
David G. Warnock University of Alabama at Birmingham, USA

What Makes Tubules Turn Cystic?

Speaker:
Gregory Germino National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes of Health, USA; Johns Hopkins School of Medicine, USA

Current strategies for curing autosomal dominant polycystic kidney disease (ADPKD)

Speaker:
Kazushige Hanaoka Internal Medicine, Division of Nephrology and Hypertension, The Jikei University, School of Medicine, Japan

Wednesday, April 6  16:45-18:15  Room D (1F)

11.
UCSC Genome Browser - A platform for variant analysis
Moderator:
Robert Kuhn Center for Biomolecular Science & Engineering, University of California Santa Cruz, USA

Thursday, April 7  12:45-14:45  Room B-1 (2F)

20.
HVP (Sharing Human Variant Data Globally - Challenges and Opportunities for 2020)
Moderator:
Helen M. Robinson Liason-World Health Organization
The Human Variome Project International Coordinating Office
University of Melbourne, Australia

Sharing human variant data globally – What can be achieved on the African Continent by 2020?

Speaker:
Raj Ramesar Division of Human Genetics, University of Cape Town, South Africa

“Sharing human variant data globally -challenges and opportunities for 2020”
Human Variome Project and the Latin American region

Speaker:
Aida B. Falcón de Vargas Clinical Genetics Unit, Hospital Vargas de Caracas, Escuela de Medicina JM Vargas, Universidad Central de Venezuela. Hospital de Clinicas Caracas, Venezuela

Human Variome Project; The Global Globin 2020 Challenge (southeast Asia)

Speaker:
Zilfalil Alwi Universiti Sains Malaysia, Malaysia

The value of accurate assignment of pathogenicity of variants in clinical genetic practice

Speaker:
Ingrid M. Winship University of Melbourne and Melbourne Health, Australia

PAGE TOP

Education Programs

Monday, April 4  14:00-15:30  Room D (1F)

1.
Career Development Sessions: How to Write a Good Manuscript
Moderators:
Eiji Nanba Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Japan
Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

How to Write a Scientific Paper

Speakers:
Maximilian Muenke Chief, Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), and Director, NIH Medical Genetics and Genomic Medicine Residency and Fellowship Programs, Bethesda, MD, USA

How to write a scientific paper and a good piece of literary prose

Speakers:
Giovanni Neri Institute of Medical Genetics, Università Cattolica del S. Cuore, Rome, Italy

Monday, April 4  15:50-16:50  Room D (1F)

2.
Career Development Sessions: How to Develop an Academic Career
Moderators:
Kenjiro Kosaki Center for Medical Genetics, Keio University School of Medicine, Japan
Shinji Saitoh Department of Pediatrics and Neonatology, Nagoya City University, Japan
Speaker:
Judith G. Hall Professor Emerita of Pediatrics and Medical Genetics, University of British Columbia, Canada

Tuesday, April 5  8:00-10:00  Room D (1F)

3.
Case Studies in Clinical Genetics: Dysmorphology
Moderators:
Nobuhiko Okamoto Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Ritsuko K. Pooh CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, Japan
Presenters/Discussants:
Nobuhiko Okamoto Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Ritsuko K. Pooh CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, Japan
Louanne Hudgins Stanford University and Lucile Packard Children's Hospital, USA

Tuesday, April 5  10:20-12:20  Room D (1F)

4.
Case Studies in Clinical Genetics: Lysosomal Storage Disease
Moderators:
Norio Sakai Osaka University Graduate School of Medicine, Division of Health Sciences, Japan
Han-Wook Yoo Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

MPS

Presenter:
Motomichi Kosuga Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Japan

Gaucher

Presenter:
Han-Wook Yoo Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Luekodystrophy

Presenter:
Norio Sakai Osaka University Graduate School of Medicine, division of Health Sciences, Japan

Fabry

Presenter:
Kimitoshi Nakamura Department of Pediatrics, Kumamoto University, Japan
Discussants:
Norio Sakai for 1 and 2 Osaka University Graduate School of Medicine, division of Health Sciences, Japan
Han-Wook Yoo for 3 and 4 Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Tuesday, April 5  13:50-15:20  Room D (1F)

5.
Case Studies in Clinical Genetics: Cancer
Moderators:
Takashi Kohno National Cancer Center Research Institute, Japan
Yoshinori Murakami Institute of Medical Science, The University of Tokyo, Japan

Part 1: Genomic Medicine of Cancer on the Basis of the Somatic Mutations

Presenters:
Takashi Kohno National Cancer Center Research Institute, Japan
Sadakatsu Ikeda Center for Personalized Cancer Therapy, University of California San Diego, Moores Cancer Center, USA
Discussant:
Kuniko Sunami National Cancer Research Center Hospital, Japan

Part 2: Genetic Counseling of Breast Cancer

Presenter:
Yoshinori Murakami Institute of Medical Science, The University of Tokyo, Japan
Discussants:
Seigo Nakamura Department of Breast Surgical Oncology, Showa University School of Medicine, Japan
Chieko Tamura Certified Genetic Counselor, Japan / USA; Medical Information & Genetic Counseling Division, FMC Tokyo Clinic, Japan

Tuesday, April 5  15:40-17:10  Room D (1F)

6.
Case Studies in Clinical Genetics: Neurology
Moderators:
Thomas Gasser German Center for Neurodegenerative Diseases (DZNE), Germany
Hiroyuki Ishiura The University of Tokyo, Japan
Presenters:
Takashi Matsukawa Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan
Masaki Tanaka Department of Neurology, The University of Tokyo, Japan
Yoshio Sakiyama Department of Neurology, Jichi Medical University, Saitama Medical Center, Japan
Discussants:
Bing-wen Soong Department of Neurology, National Yand-Ming University, Taipei, Taiwan
Hiroshi Takashima Neurology and Geriatrics, Kagoshima University, Japan

Thursday, April 7  8:00-9:30  Room D (1F)

7.
Education of Genetics: Genetics Education for Undergraduate Medical Students in Asia
Moderators:
Akihiro Sakurai Sapporo Medical University, Japan
Meow-Keong Thong Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Problem-based learning in genetics education in a developing country

Speaker:
Meow-Keong Thong Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

Genetics education in Philippine medical schools

Speaker:
Maria Melanie Liberty B. Alcausin
  Newborn Screening Reference Center, National Institutes of Health-University of the Philippines, Manila, Philippines

Integrating genetics in undergraduate curriculum – Indian perspective

Speaker:
Seema Kapoor Department of Pediatrics, Maulana Azad Medical College, New Delhi, India

Genetic Education for Undergraduate Medical Students in Japan

Speaker:
Atsushi Watanabe Division of Clinical Genetics, Nippon Medical School, Japan

Thursday, April 7  9:45-11:15  Room D (1F)

8.
Education of Genetics: Genetics Education for Public
Moderators:
Takahito Wada Kyoto University, Japan
Michael J. Dougherty American Society of Human Genetics, USA

Educating the Public about Genetics: A Perspective from the U.S.

Speaker:
Michael J. Dougherty American Society of Human Genetics, USA

The Australian experience with genetics education for primary and high school students and current challenges

Speaker:
Kristine Barlow-Stewart Sydney Medical School Northern, University of Sydney, Australia

The changing face of genomics learning and its drivers in the UK

Speaker:
Mat Hickman Wellcome Trust, UK

Genetic Education for Children: A Nagasaki University Initiative

Speaker:
Kanako Morifuji and Noriko Sasaki
  Department of Nursing, Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, Japan

Concurrent Oral Sessions

Submitted abstracts will be evaluated by reviewers. Abstracts for oral presentation will be selected based on the review.

Poster Sessions

Poster presentations will take place over 3 days, from Monday, April 4 through Wednesday, April 6, 2016. Authors must be present at their poster panels for the duration of their scheduled presentation time to provide all participants with in-depth information on their findings and answer questions.

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