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;
Germany
E02.2 Classic misconceptions in high-throughput data analysis and how to learn from them
Bernhard Renard;
Germany
E03.1 Pharmacogenetics – From Bench to Drug Label
Julija Stingl;
Germany
E03.2 Pharmacogenomic testing in clinical practice
Richard Turner;
United Kingdom
E04.1 Ehlers Danlos Syndromes and the Differential Diagnosis of Hypermobility
Franziska Malfait;
Belgium
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;
Austria
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;
France
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;
Denmark
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;
Germany
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;
Australia
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;
Italy
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