Live Sessions

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

All live sessions will be available on-demand the next day.

Always Available

Welcoming addresses by :

Alexandre Reymond, President of the ESHG

Joris Veltman, Chair of the Scientific Programme Committee

View an outline of highlights of the day presented by an SPC member.

Always Available | Educational Sessions E02 – E16

E02.1 Reproducibility in Life Sciences

John Ioannidis;

E02.2 Classic misconceptions in high-throughput data analysis and how to learn from them

Bernhard Renard;

E03.1 Pharmacogenetics – From Bench to Drug Label

Julija Stingl;

E03.2 Pharmacogenomic testing in clinical practice

Richard Turner;
United Kingdom

E04.1 Ehlers Danlos Syndromes and the Differential Diagnosis of Hypermobility

Franziska Malfait;

E04.2 Vascular Presentation of the Ehlers Danlos Syndromes

Peter Byers;
United States

E05.1 Functional Characterization and Therapeutic Targeting of Gene Regulatory Elements

Nadav Ahituv;
United States

E05.2 Dissecting and Understanding Non-Coding Sequences

Alexander Stark;

E06.1 Microcephaly

Grazia M.S. Mancini;
The Netherlands

E06.2 Macrocephaly

Ghayda Mirzaa;
United States

E07.1 Editing the Mammalian Genome: Targets and Tools

Helen O’Neill;
United Kingdom

E07.2 Genome-Wide CRISPR-Cas9 Screening in Immune Cells

Pavel Tolar;
United Kingdom

E08.1 What Was, What Is, What If – Trends and Predictions In Assessing Genetic Counseling

Robert Resta;
United States

E08.2 How to help society interact with genomic technology

Anna Middleton;
United Kingdom

E09.1 Diagnostic Approach Update in Mitochondrial Disease

Marni Falk;
United States

E09.2 The Origin of mtDNA Mutations: Population Genetics and Disease – CANCELLED

Patrick Chinnery ;
United Kingdom

E10.1 Gene therapy in genetic disorders

Marina Cavazzana;

E10.2 Trial readiness, trial endpoints and stakeholder collaboration

Volker Stauber;
United Kingdom

E11.1 Heritability Estimation and Gene-Environment Interactions

Alexander Young;
United Kingdom

E11.2 Flexible Heritability Estimation from Summary Statistics

Doug Speed;

E12.1 A Guide to Deep Learning in Healthcare

Mark DePristo;
United States

E12.2 Challenges and chances for deep learning in medical applications

Marcel Schulz;

E13.1 Mitochondrial replacement techniques: Exploring the biological consequences

Mary Herbert;
United Kingdom

E13.2 Should the UK’s Approach to MRT be Adopted in Other Countries? – CANCELLED!

César Palacios-González;
United Kingdom

E14.1 Recent Advances in the Identification and Characterization of Expanded Repeats

Paul J. Lockhart;

E14.2 Therapeutic advances in Huntington’s disease with relevance to other repeat expansion disorders

Sarah J. Tabrizi;
United Kingdom

E15.1 Variant Interpretation in Hereditary Colorectal Cancer Syndromes: Lessons Learned from INSIGHT

Maurizio Genuardi;

E15.2 Variant interpretation in Hereditary Breast and Ovarian Cancer Syndrome Patients: Lessons Learned from ENIGMA, ClinGen and Other International Consortia

Fergus Couch;
United States

E16.1 Optimising access to genetic services for consanguineous families: The UK experience – CANCELLED!

Naz Khan;
United Kingdom

E16.2 Consanguinity and endogamy in health and disease

Hilary Martin;
United Kingdom

Always Available | Workshops

Workshop Organiser: Kaitlin Samocha

About the workshop:

Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge. In this workshop, we will discuss publicly available resources to aid in variant interpretation from exome sequencing, methods to make the most of exome sequencing data, and lessons learned as part of the 100,000 Genomes Project. We will finish with real-life examples from clinical cases.

Detailed programme:

DECIPHER Workshop (15 minutes)
Julia Foreman

Recyling your exomes (15 minutes)
Christian Gilissen

The highs and lows of whole genome sequencing for rare and inherited disorders in the 100,000 Genomes Project (15 minutes)
Ellen Thomas

Clinical Cases (15 minutes)
Katrin Ounap

Workshop Organiser: Birte Zurek, Olaf Rieß, Holm Gräßner

About the workshop:

“Solve-RD – solving the unsolved rare diseases” is a research project funded by the European Commission for five years (2018-2022) aiming at improving the diagnostic and therapeutic management of rare diseases. It will deliver seven implementation steps, including one dedicated to treatment as part of the “genetic knowledge web”. With this in mind, we propose a method of allowing clinicians to access this information promptly to benefit patients affected by rare disease and their families. The “Treatabolome” is an evidence-appraised database of rare diseases treatments for specific genes and variants to be made available through genetic diagnosis and support tools, for example, the Genome-Phenome Analysis Platform of RD-Connect. The Treatabolome aims at contributing to raising awareness and increasing the visibility of existing rare diseases’ treatments to clinicians.

Detailed programme:

Concept of Treatabolome (15 minutes)
Gisèle Bonne (Sorbonne Université-Inserm, Centre de Recherche en Myologie, Paris, France)

Writing Systematic Reviews to produce FAIR compliant therapeutic datasets (15 minutes)
Rachel Thompson (Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Canada)

A Medical Action Ontology (MAxO) for Therapies and Medical Management of Rare-Disease Patients (15 minutes)
Peter Robinson (The Jackson Laboratory, Farmington, CT, United States)

Building a treatabolome database (15 minutes)
Sergi Beltran and Leslie Matalonga (Centre Nacional d’Anàlisi Genòmica (CNAG-CRG), Barcelona, Spain)

Workshop Organiser: Vita Dolžan

About the workshop:

Pharmacogenomics has the potential to make pharmacotherapy safer and more effective by utilizing patient’s genetic data for drug selection and dosing. However, the implementation of pharmacogenomic testing in clinical practice is slow and facing some challenges that will be discussed during the workshop. Examples of successful integration into routine clinical care will also be presented along with some typical cases where pharmacogenomics played a role in a real world clinical practice. These examples will be used to pinpoint to some challenges and also limitations of pharmacogenomic testing in order to pave the way for a rational use of pharmacogenomics in the clinical practice.

Detailed programme:

Introduction: Pharmacogenomics in translation from research to practice: the lessons learnt from the UPGx project (15 minutes)
Vita Dolžan

Pharmacogenomics from lab to clinic: Pharmacogenomics passport (20 minutes)
Ron Van Schaik

Pharmacogenomics – cases from real world precision medicine (20 minutes)
Julia Carolin Stingl

Conclusions (5 minutes)
Vita Dolžan

Workshop Organisers:  Danya Vears, Gabriel Lazarin

About the workshop:

In this workshop, we propose to articulate challenges and innovative solutions to:

1) pre-test education and informed consent
2) results disclosure to patients
3) communication of results to family members

By including speakers with both a research and practical focus on genetic counselling and test delivery, we also aim to illuminate multiple approaches to addressing these. We will encourage critical analysis and discussion of these approaches to gain understanding of their effectiveness and replicability.

Detailed programme:

Introduction (5 minutes)
Danya Vears, Gabriel Lazarin

Innovations in recontacting: first results of a randomized trial using a digital platform (15 minutes)
Irene van Langen (University Medical Center of Groningen, The Netherlands)

Edna: How can a chatbot augment genomic counselling for Additional Findings? (15 minutes)
Dana Bradford (Australian E-Health Research Center, Australia)

Technology-Driven Prenatal Screening Results Disclosure and Management (15 minutes)
Aishwarya Arjunan (Myriad Women’s Health, United States)

Conclusion (10 minutes)
Danya Vears, Gabriel Lazarin

Always Available | Corporate Satellites

Live Sessions