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.
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