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APR 24-26, 2019 | SEOUL, SOUTH KOREA

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Programme Highlights


Submissions for Chen Awards and HUGO African Prize Award 2019 are now open!
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Chen Award HUGO African Prize

[HUGO Ethics Workshop]

The HUGO Genome Meeting 2019: Towards Implementing Genomic Medicine

April 24-27 – EWHA Womans University, Seoul, South Korea

Open Science

What do we need to know to protect the interests of Publics and Scientists?

A workshop presented by the HUGO Committee on Ethics, Law and Society (CELS), the Human Variome Project and the EWHA Institute for Biomedical Law and Ethics

In a world where there is increasing will to ensure that all benefit from scientific advances, how do those working in the space of human genomics contribute to this?

One model is Open Science, characterised by the principle of the free dissemination of knowledge, with the goal to accelerate innovation and streamline translation from bench to application.

The idea that science is accessible to everyone, anywhere in the world, raises important questions for scientists. This workshop will provide an overview of the ethical and legal implications for global research.

9.00-9.10 Welcome

Prof Kyung Suk Choi, Director of the EWHA Institute for Biomedical Law and Ethics (EWHA Womans University, South Korea)

9.10-9.30 Introduction to ‘Open Science’

Assoc Prof Benjamin Capps, Chair HUGO CELS, Department of Bioethics (Dalhousie University, Canada)

09.30-10.10 What is Open Science?

Assoc Prof Yann Joly, Research Director of the Centre of Genomics and Policies (Montreal University, Canada)

Commentary by Prof So Yoon Kim, Director of Medical Law and Ethics, College of Medicine (Yonsei University, South Korea)

Chaired by Dr Vicki Xafis, Centre for Biomedical Ethics (National University of Singapore, Singapore)

10.10-11.50 Why Do Open Science?

Prof Ruth Chadwick, Distinguished Research Professor (Cardiff University, UK)

Commentary by Prof Catherine Mills, Monash Bioethics Centre (Monash University, Australia)

Chaired by Assistant Prof Tamra Lysaght, Vice Chair HUGO CELS, Centre for Biomedical Ethics (NUS, Singapore)

Break 10.50-11.10
11.10-11.50 Benefits and Evidence of Open Science Initiatives

Helen Robinson, HVP and Nossal Institute for Global Health (University of Melbourne, Australia)

Commentary by Professor Ingrid Winship, Chair NHMRC Australian Health Ethics Committee (University of Melbourne, Australia)

Chaired by Dr Owen Schaefer, Centre for Biomedical Ethics (NUS, Singapore)

11.50-12.30 Legal Challenges for Open Science

Won Bok Lee (Korea) EWHA Institute for Biomedical Law and Ethics (EWHA Womans University, South Korea)

Commentary by Markus Ladube, Centre for Biomedical Ethics (NUS, Singapore)

Chaired by A/Prof Tamra Lysaght, Centre for Biomedical Ethics (NUS, Singapore)

12.30-13.00 Panel Discussion

Chaired by Benjamin Capps, Department of Bioethics (Dalhousie University, Canada)

[HGVS Nomenclature Session]

HGVS nomenclature

Wednesday April 24, Seoul (South Korea)

Interested in HGVS nomenclature? Want to learn the basics? Want to increase your knowledge? Wiling to test your skills in describing variants?

Join us at the HGM2019 in Seoul for the HGVS nomenclature workshop!

HGVS nomenclature, the HGVS recommendations for the description of sequence variants, are currently supported by HGVS, HVP, HUGO and GA4GH. HGVS nomenclature is the language by which scientific papers and diagnostic reports describe genetic variation, variants in DNA, RNA and protein sequences. Understanding this language, and knowing how to use it, is crucial for mutual understanding between scientists and for the accuracy of scientific and diagnostic reporting. A correct use of the HGVS recommendations prevents miscommunication and ensures that variants are uniquely described and can be efficiently retrieved from existing data repositories facilitating variant annotation and classification.

The aim of the course is to give participants a detailed overview of the HGVS nomenclature (Den Dunnen et al., 2017, Hum.Mutat. 37:564, The course will start simple, gradually go deeper and be interactive, i.e. participants test their skills continuously. Both beginners and experienced users should receive useful information.

The workshop will be an e-workshop; all materials will be provided in electronic format only. Participants are requested to bring their own laptop, tablet or smart phone to be able to use the internet and try the exercises. Participants are encouraged to bring examples of cases where they doubt how to describe the variant correctly.


09.00 Welcome & Introduction

purpose of the nomenclature (standard), short history, terminology, Sequence Variant Description Working Group (SVD-WG), versioning, types of variants

09.30 The basics

reference sequences, IUPAC symbols, residue-numbering conventions, variant types, simple basic descriptions, symbols used, priorities, substitutions, online support tools

10.30 Break

11.00 Deletions, duplications, insertions and other variant types

11.45 Description of variants at the RNA & protein levels

consequences resulting from changes in splicing and/or the open reading frame (missense, nonsense, frame shift)

12.30 Q&A, discussion, evaluation

13.00 Close

Johan den Dunnen

chair HGVS SVD-WG (Sequence Variant Description Working Group)

[Global Consortium for Genomic Education]

“Genomic Education and Training for Healthcare” @ The Human Genome Meeting 2019

Towards Implementing Genomic Medicine

April 24th - 26th 2019


“Genomic Education and Training for Healthcare”

Sponsored by the ‘Global Consortium for Genomic Education (GC4GE)’

Session Lead:

Professor Dhavendra Kumar, Institute of Medical Genetics, Cardiff University School of Medicine & Genomic Policy Unit, University of South Wales, Wales, UK

Session objectives:

  • Essential skills and competencies for delivering the effective genomic medicine & healthcare
  • Core curriculum for genomic education & training
  • Organization and quality outcomes of genomic education & training program
  • Genomic education and training in developing and less developed nations
  • Role of public and media in genetic and genomic education
  • Continuous genetic and genomic education through tertiary multi-disciplinary specialist genetic & genomic clinics (oncology, cardiac, neuro, fetal/neonatal etc.)

Session plan

Date: 24 April 2019, Parallel session between 1000-1300 (following the morning plenary or key note lecture)

Tea/ Coffee provided throughout the session to avoid interuption

Chairs: Prof. Dhavendra Kumar, Cardiff & Genomic Education Director, NIH, Bethesda (To be confirmed)

Speakers (tentative)

6 speakers, 30 minutes each including 5 minutes for questions/ answers

  • Dhavendra Kumar, Cardiff, UK
  • Bruce Korf, Birmingham, Alabama, USA
  • Angus Clarke, Cardiff, UK
  • Carmencita Padilla, Manila, Phillipines
  • Teri Monallo, NHGRI, NIH, Bethesda, MD, USA
  • Raj Ramesar, Capetown, South Africa