The Scientific Programme Committee is hard at work adapting the programme schedule to a virtual friendly format, which will aim at being one of the best platforms for knowledge exchange in the area of human genetics, as expected on a yearly basis by the audience of the ESHG conferences.

Plenary Sessions

Chairs:  Maurizio Genuardi, Alexandre Reymond

Chairs:   Maurizio Genuardi, Alexandre Reymond

PL1.1  Title to be announced

Kári Stefánsson;
Iceland

PL1.2  The COVID-19 host genetics initiative

Andrea Ganna;
The Netherlands

PL1.3  Inborn errors of immunity to SARS-CoV-2

Jean-Laurent Casanova
France

The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2021 conference.
The deadline for abstract submission is February 12, 2021. Do not miss the opportunity to be able to present your work in this exclusive slot!

Selected presenters will be informed after all abstracts have been reviewed and confirmed by the Scientific Programme Committee mid-March 2021.

PL3.1  ELPAG Award Lecture

Gerry Evers-Kiebooms;
Belgium

PL4.1  Mendel Lecture

Dennis Lo;
Hong Kong

PL5.1  ESHG Award Lecture

Carlos Caldas;
United Kingdom

EJHG-SN Citation Awards

ESHG Awards for Best Presentations by Young Investigators

European DNA Day Contest

Closing Address

Educational Sessions

E01.1 A liquid biopsy for infectious disease

Iwijn De Vlaminck;
United States

E01.2 Detection of structural variation and haplotype-aware genome assembly through Strand-Seq

Ahley Sanders;
Germany

E01.3 Sequencing Genome Organization

Magda Bienko;
Sweden

E01.4 Creating, integrating and joint analysis of state-of-the-art single-cell multi-omics data

Boyan Bonev;
Germany

E02.1 The CANGEN-CANVAR Programme: Delivering better tools for prevention and early detection in hereditary cancer syndromes

Clare Turnbull
United Kingdom

E02.2 Driving hereditary cancer research with the European Reference Network GENTURIS

Nicoline Hoogerbrugge;
The Netherlands

E03.1 How to think about uncertainty in clinical genomics

Paul Han;
United States

E03.2 Uncertainity: The patient experience

Stina Lou;
Denmark

E03.3 Coping with uncertainty of genomic testing in a non-genetic setting

Anthony Wierzbicki;
United Kingdom

E04.1 Genetic basis of imprinting disordes

Thomas Eggermann;
Germany

E04.2 Diagnosis and treatment of imprinting disorders

Karen Temple;
United Kingdom

E05.1 Pre-emptive pharmacogenetic testing in clinical practice

Jesse J. Swen;
The Netherlands

E05.2 Pharmacogenomics: Saving lives with personalized treatment

Jatinder Lamba;
United States

E06.1 Inherited arrhythmia syndromes

Connie R. Bezzina;
The Netherlands

E06.2 Intoduction to the arrhytmogenic disorders

Johan Saenen;
Belgium

E07.1 Using genomic resources to interpret the clinical significance of rare variants

Heidi Rehm;
United States

E07.2 Intepretation of the non-protein-coding regions of the genome

Nicky Whiffin;
United Kingdom

E08.1 Status of PGT and embryo selection in the era of NGS

Antonio Capalbo;
Italy

E08.2 Good practice recommendations for the PGT applications

Martine De Rycke;
Belgium

E09.1  AI in genomics: the present and the future

Julien Gagneur;
Germany

E09.2  Policy, ethical, legal and social issues of AI use in genomics

Sobia Raza ;
United Kingdom

E10.1 Polygenic risks in complex disorders and Covid-19

Angel Carracedo;
Spain

E10.2 Polygenic risks in disorders of aging

Valentina Escott-Price;
United Kingdom

E11.1 How are the causes of complex disease distributed in the human genome?

David Balding;
Australia

E11.2 Bayesian gene discovery in rare disease

Ernest Turro;
United Kingdom

E12.1  Quantitative single cell biology

Dominic Grün;
Germany

E12.2 A Studying the immune system cell by cell

Muzlifah Haniffa;
United Kingdom

E12.1  Human stem cells-based organoids for personalized disease modelling in human genetics

Hans Clever;
The Netherlands

E12.2 Modeling human lung development and disease using hPSC-derived organoids

Hans-Willem Snoeck;
Untited States

 

E14.1 Methylation variation in human diseases

Andrew Sharp;
United States

E14.2 Computational analysis of DNA methylation in disease

Kasper Hansen;
United States

E14.1 Signatures of selection in human genome

Aida Andres;
United Kingdom

E14.2 Genetic population structure and its consequences in biobank scale data

Daniel Lawson;
United Kingdom

E15.1 The mediatory role of DNA methylation in causal pathways

Rebecca Richmond;
United Kingdom

E15.2 Exploiting the genome-wide genetic architecture for causal modelling

Michel Nivard;
The Netherlands

E16.1 Chromosomal Instability and aging

Elsa Logarinho;
Portugal

E16.2 Genomic instability in early embryonic development

Ewart W. Kuijk;
The Netherlands

E18.1  What, when, and whys of genome-wide association studies (GWAS)

Marika Kaakinen;
United Kingdom

E18.2  Considerations for genotyping, quality control, and imputation in GWAS

Ayse Demirkan;
The Netherlands

E18.3  Population structure, meta-analysis and trans-ethnic meta-analysis in GWAS

Reedik Mägi;
Estonia

S23.1 Improving precision medicine for breast cancer in Africa

Jonine Figueroa;
United Kingdom

S23.2  Pediatric cancer/ Retinoblastoma management in Latinoamerica

Guillermo Luis Chantada
Spain

S24.3  Molecular profiling in cancer of African ancestry

John Carpen;
United States

Workshops

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

More information will follow in spring 2021.

Concurrent Symposia

S01.1 The quest for deep knowledge – decoding the human genome with deep learning models

Olga Troyanskaya;
United States

S01.2 Leveraging public epigenomic datasets to examine the role of regulatory variation in the three-dimensional organization of the genome

Sushmita Roy;
United States

S01.3 Combining regulatory genomics deep learning with rare-variant association tests

Uwe Ohler;
Germany

S02.1 Imaging the accessible genome at nanometer scale

James Zhe Liu;
United States

S02.2 Spatially resolved gene expression

Joakim Lundeberg;
Sweden

S02.3 Reading and visualizing single-cell genomes

Pierre Neveu;
Germany

S03.1 Journeying through the human endovirome, from species-specific biology to precision oncology

Didier Trono;
Switzerland

S03.2 Models to study the impact of active retrotransposons on the genome

Jose Garcia-Perez;
United Kingdom

S03.3 Activation of transposons in neurological disorders

Johan Jakobsson;
Sweden

S04.1 How to transfer genomic data internationally in compliance with the GDPR

Heidi B. Bentzen;
Norway

S04.2 Is the GDPR preventing international genomic data sharing?

Jasper Bovenberg;
The Netherlands

S04.3 1+ Million Genomes Initiative and the GDPR

Regina Becker;
Luxembourg

S05.1 DNA damage maps

Anna Poetsch;
Germany

S05.2 DNA damage due to suppression of DNA repair in tumorigenesis

Peter Glazer;
United States

S05.3 Mutational signatures of environmental and chemotherapeutic agents in the genomes of human cells

Jill Kucab;
United Kingdom

S06.1 Transcriptional programs of brain tumors

Claudia Kleinman;
Canada

S06.2 Epigenomics of single cells in cancer

Renee Beekman;
Spain

S07.1 Rapid evolution of genome regulation in mammals

Duncan Odom;
Germany

S07.2 Leveraging massive-scale population genomics data to unveil functional constraints

Daniel MacArthur;
Australia

S07.3 Cross-species analysis of regulatory elements and logic using deep learning

Stein Aerts;
Belgium

S08.1 Ancestry characterization of the Chilean population and its relevance to health

Ricardo Verdugo;
Chile

S08.2 The Mexico Biobank Project

Andrès Moreno;
Mexico

S08.3 Ethics and inclusivity when working with indigenous populations

Emma Kowal;
Australia

S09.1  AAV gene therapy for glycogen storage diseases

Dwight Koeberl;
United States

S09.2  mRNA replacement therapy for inborn errors of liver metabolism

Paolo Martini;
United States

S09.3  Lentiviral vectors for liver-directed gene therapy

Alessio Cantore;
Italy

S10.1 Genetic predisposition to medulloblastoma: Somatic evolution and clinical implications

Sebastian M. Waszak;
Norway

S10.2 Non-Invasive Early Lung Cancer Detection

Maximillian Diehn;
United States

S10.3 Therapeutic vulnerabilities from epigenetic alterations in cancer

Nada Jabado;
Canada

S11.1 DNA methylation episignatures in Mendelian neurodevelopmental disorders

Bekim Sadikovic;
Canada

S11.2 Neuronal phenotyping to assess ID/DD variants

N.Nadif Kasri;
Australia

S11.3 Variants and cellular traits

Helena Kilpinen;
Finland

S12.1 Cytoskeletal organization and function in oocyte meiosis

Melina Schuh;
Germany

S12.2 Meiotic crossover – novel insights

Scott Keeney;
United States

S12.3 Chromosomal errors originating in oocytes determine the curve of natural fertility in humans

Eva R. Hoffmann;
Denmark

S13.1 Order and disorder: abnormal 3D chromatin organization in human enhanceropathies

Darío G. J. Lupiáñez;
Germany

S13.2 Reconstruction of gene regulatory networks In Vivo

Tatjana Sauka-Spengler;
United Kingdom

S13.3 Determinants of enhancer and promoter activities of regulatory elements

Robin Andersson;
Denmark

S14.1 The patient perspective

Jayne Spink;
United Kingdom

S14.2 Telemedicine in genetics services

Sofia Douzgou;
United Kingdom

S14.3 Factors influencing use of telegenetic counseling: Review of professionals’ experience

Rebecka Pestoff;
Sweden

S15.1 Unraveling the sequence of the centromere

Karen Miga;
United States

S15.2 De novo assembly of human genomes

Adam Ameur;
Sweden

S15.3 Genome architecture and disease

Evan Eichler;
United States

S16.1 Cell competition in cancer

Eduardo Moreno;
Portugal

S16.2 Quantitative and dynamic aspects of cell competition

Miguel Torres;
Spain

S16.3 Cell heterogeneity in normal human development

Thierry Voet;
Belgium

Chairs:  Alexandre Reymond, Jeffrey Kidd

S17.1 Global genetics towards a socially just practice: a view from North America

Charmaine Royal;
United States

S17.2 Global genetics towards a socially just practice: a view from Asia

Kazuto Kato;
Japan

S17.3 Global genetics towards a socially just practice: a view from Africa

Jantina de Vries;
South Africa

S17.4 Global genetics towards a socially just practice: a view from Europe

Barbara Prainsack;
Austria

S18.1 Estimating ascertainment bias

Nicola Pirastu;
United Kingdom

S18.2 The impact of transmitted and untransmitted alleles for birth weight

Nicole Warrington;
Australia

S18.3 The nature of nurture

Patrick Turley;
United States

S19.1 Approach to overgrowth syndrome in the genome era

Kate Tatton-Brown;
United Kingdom

S19.2 Epigenetic signatures in overgrowth syndrome

Rosanna Weksberg;
Canada

S19.3 Regional overgrowth

Leslie Biesecker;
United States

S20.1  The art, science and practice of implementing genomics in clinical care

Stephanie Best;
Australia

S20.2  Applying social cognitive theory to improve implementation of genomics in clinical practice

Jeremy Grimshaw;
Canada

S20.3  Health economics informing the implementation of genomics

Catherine Lejeune;
France

S21.1 Current trends in RNA therapeutics development

Michela A. Denti;
Italy

S21.2 Lessons learnt from the “DMD saga”: from genetics to clinical trials

Annemieke Aartsma-Rus;
The Netherlands

S21.3 Patisiranin clinical practice – Experience from the UK National Amyloidosis Centre

Julian Gillmore;
United Kingdom

S19.1 Cellular signalling by primary cilia in development, organ function and disease

Lotte B. Pedersen;
Denmark

S19.2 Guilty by association: dissecting ciliary protein complexes to elucidate ciliopathy disease mechanisms

Ronald  Roepman
The Netherlands

S19.3 Genes and molecular pathways underpinning ciliopathies

Michel R. Leroux;
Canada