Live Sessions

Please note that all times below refer to Central European Summer Time

10:00 – 11:30 hrs | Concurrent Sessions C13-C18 from submitted abstracts

11:30 – 12:00 hrs | Break

12:00 – 13:00 hrs | Plenary Session PL3

PL3.1  ELPAG Award Lecture

Gerry Evers-Kiebooms;
Belgium

12:00 – 13:00 hrs | Educational Session E02

E02.1  Human stem cells-based organoids for personalized disease modelling in human genetics

Hans Clevers;
The Netherlands

E02.2 Modeling human lung development and disease using hPSC-derived organoids

Hans-Willem Snoeck;
Untited States

 

12:00 – 13:00 hrs | Corporate Satellites

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13:00 – 13:45 hrs | Live e-Poster Viewing with Authors

13:45 – 14:00 hrs | Break

14:00 – 15:00 hrs | Workshops W07-W11

Workshop Organisers:  Gunnar Houge, Heidi Rehm

Workshop Organisers:  Jill Clayton-Smith, Sofia Douzgou


About the workshop:

We invite all those working in the field of syndrome diagnosis, and those who wish to learn more about the art and science of Dysmorphology, to attend this session. In view of this year’s virtual ESHG format please participate by e-mailing short PowerPoint presentations (see specifications below) of your distinctive unsolved cases or your instructive solved cases until May 1, 2021 to:
sofia.douzgou.houge@helse-bergen.no 
If you require an nhs.net e-mail address please e-mail to: jillclayton-smith@nhs.net 

We will select 6 cases that will be presented for discussion ‘live’ during the online workshop. Even if you do not have cases to bring, we also encourage workshop attendees to share their knowledge of dysmorphology and broader genetic mechanisms by participation in the case discussions via the chat. As we move further into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.
We also welcome “solved” cases that you may have presented as unknowns at the ESHG in previous years, but where you now have an answer. These are very interesting and instructive for the audience.

Presentation Format:

Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes, leaving some time for discussion. Slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations undertaken. Although we do not necessarily expect every patient to have had whole genome or exome sequencing, cases must have undergone a reasonable diagnostic workup before presentation and permission should have been sought from patients/parents for presentation.

We look forward to seeing you!

Workshop Organisers:  Tara Clancy, Mike Parker

Workshop Organisers:  Michal Szpak

About the workshop:

Genetic variation between individuals results in a range of human phenotypes, from differences in the immune response against transmissible diseases, such as COVID-19, to rare developmental disorders. Understanding the effect of genetic variants upon genes associated with phenotypes is underpinned by a high quality geneset. The Ensembl/GENCODE geneset contains expert annotation of evidence based transcripts. The annotation of clinically important genes is prioritised as part of the MANE project (Matched Annotation from NCBI and EMBL-EBI) where MANE Select transcripts and additional MANE Plus Clinical transcripts are agreed with the RefSeq team to provide a resource for variant reporting. Additionally, we have updated the annotation of ~300 human genes associated with SARS-CoV-2  infection, such as ACE2, to improve annotation of alternative promoter usage and splicing.

The Ensembl Variant Effect Predictor (VEP) toolset allows fast and flexible annotation of genetic variants to predict functional consequences in the context of the Ensembl/GENCODE geneset, allowing further variant filtering, prioritisation and reporting using the MANE Select and MANE Plus Clinical transcript sets.

This workshop will guide you through the Ensembl/GENCODE and MANE annotation process, allowing you to experience the challenges involved in annotation and transcript selection. You will also learn how to use the Ensembl VEP to map genetic variants onto Ensembl/GENCODE transcripts and other Ensembl annotation including regulatory regions and regions of evolutionary conservation to determine their likely functional effects and filter to prioritise variants.

In order to follow along the hands-on aspects of this workshop, including exploring online databases and exercises, you will need to bring a laptop to this session. Workshop materials, including slides, demonstration screenshots, exercises, sample files and solutions will be made available before the workshop and will remain permanently online at the Ensembl training portal:  https://training.ensembl.org

Workshop Organisers:  Martina Cornel, Carla van El

About the workshop:

Gene editing has stirred hope for finding cures for serious genetic disorders. As for germline gene editing, ESHG stated that it is premature, many countries prohibit research, there is international support for a moratorium, and global initiatives for guidance development and public debate have been initiated. On the other hand, for somatic gene editing animal experiments and human trials show excellent results. In this workshop we discuss the state of the art and prospects for human germline gene editing and somatic editing. For which disorders cures are becoming conceivable? What technical challenges and ELSI issues lie ahead?

Programme:

14:00- 14:03
Introduction
Martina Cornel, The Netherlands

14:03-14:18
The status of the international debate on Germline Gene Editing
Michelle Ramsay, South Africa

14:18-14:33
Somatic gene editing
Kirmo Wartiovaara, Finland

14:33-14:48
Editing haemoglobin disorders
To be announced

14:48-15:00
Discussion & Closure
Martina Cornel, The Netherlands

15:00 – 15:30 hrs | Break

15:30 – 16:30 hrs | Corporate Satellites

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16:30 – 17:00 hrs | Break

17:00 – 18:15 hrs | Concurrent Symposia S13-S17

S13.1 Unraveling the sequence of the centromere

Karen Miga;
United States

S13.2 De novo assembly of human genomes

Adam Ameur;
Sweden

S13.3 Genome architecture and disease

Evan Eichler;
United States

S14.1 Cell competition in cancer

Eduardo Moreno;
Portugal

S14.2 Quantitative and dynamic aspects of cell competition

Miguel Torres;
Spain

S14.3 Cell heterogeneity in normal human development

Thierry Voet;
Belgium

Chairs:  Alexandre Reymond, Jeffrey Kidd

S15.1 Global genetics towards a socially just practice: a view from North America

Charmaine Royal;
United States

S15.2 Global genetics towards a socially just practice: a view from Asia

Kazuto Kato;
Japan

S15.3 Global genetics towards a socially just practice: a view from Africa

Jantina de Vries;
South Africa

S15.4 Global genetics towards a socially just practice: a view from Europe

Barbara Prainsack;
Austria

S16.1 Estimating ascertainment bias

Nicola Pirastu;
United Kingdom

S16.2 Estimating direct and indirect genetic effects on birth weight

Nicole Warrington;
Australia

S16.3 The nature of nurture

Patrick Turley;
United States

S17.1 Approach to overgrowth syndrome in the genome era

Kate Tatton-Brown;
United Kingdom

S17.2 Epigenetic signatures in overgrowth syndrome

Rosanna Weksberg;
Canada

S17.3 Regional overgrowth

Leslie Biesecker;
United States

18:15 – 18:45 hrs | Break

18:45 – 19:45 hrs| Meet the speakers of Educational Sessions E03-E11

18:45 – 19:45 hrs | Corporate Satellites

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19:45 – 20:15 hrs | Break

20:15 – 21:45 hrs | Corporate Satellites

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Note that the programme is subject to change, and will be updated continuously up to the conference