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


08:30 – 10:00 hrs | Concurrent Symposia S12-16 & Educational Sessions E11-E12

Room: Hall A
Chairs: Zoltan Kutalik and Markus Keller

S12.1 From bulk to single cell expression QTLs

Lude Franke;

S12.2 The genetics of DNA methylation and its role in disease

Caroline Relton;
United Kingdom

S12.3 Deciphering the genomic aetiology of osteoarthritis

Eleftheria Zeggini;

Room: Hall E1
Chairs: Carla Oliveira and Katharina Wimmer

S13.1 Triggers of recurrent genomic amplification

Hisashi Tanaka;
United States

S13.2 The evolution of human cancer gene duplications across mammals (virtual)

Vincent J. Lynch;
United States

S13.3 Germline predisposing duplications in myeloid neoplasms

Isabelle Plo;

Room: Hall F1
Chairs: Kelly Ormond and Gunda Schwaninger

S14.1 Overview of degenerative dementia genetics and predictive biomarkers

Paola Mandich;

S14.2 Genetic counselling for neurodegenerative conditions

Rhona MacLeod;
United Kingdom

S14.3 Ethics of predictive testing for dementia: Patient viewpoints and autonomy

Silke Schicktanz;

Room: Hall F2
Chairs: Michael Speicher and Peter Krawitz

S15.1 From DNA to face: Genetics of human faces

Peter Claes;

S15.2 From face to DNA: Computer-based facial dysmorphology analysis

Benedikt Hallgrimsson;

S15.3 Genetics and DNA prediction of human appearance with applications

Manfred Kayser;

Room: Hall K
Chairs: Elisa Giorgio and Christian Windpassinger

S16.1 Studying cortical development through the lens of human disorders

Gaia Novarino;

S16.2 Deep brain stimulation: exploratory and therapeutic tool in genetic movement disorders

Laura Cif;

S16.3 Visual circuit defects in albinism

Alexandra Rebsam;

Room: Hall D
Chairs: Thomas Eggermann

E11.1 Pre/Perinatal gene therapy

Anna David;
United Kingdom

E11.2 Derepression of imprinted gene alleles as a new approach to treat imprinting disorders

Ulrich Zechner;

Room: Hall E2
Chairs: Johannes Zschocke

E12.1 Update on the diagnosis and treatment of hyperammonaemias

Johannes Häberle;

E12.2 Pathogenesis and novel treatment strategies in organic acidurias

Stefan Kölker;

08:30 – 10:00 hrs | Corporate Satellites

More information

10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing

10:30 – 12:00 hrs | Concurrent Sessions C16-C23 from submitted abstracts

Room: Hall A
Chairs: Maris Laan and Huiwen Che

C16.1 Non-invasive prenatal diagnosis of monogenic diseases by enhanced relative haplotype dosage analysis
Juliette NECTOUX, France

C16.2 Multicentric longitudinal performance monitoring of different non-invasive prenatal screening technologies used in Belgium
Armelle DUQUENNE, Belgium

C16.3 Methylome analysis of cfDNA to predict preeclampsia presymptomatically
Marie DE BORRE*, Belgium

C16.4 Homozygosity at BCHE in the fetus as a risk factor for preeclampsia during pregnancy
Laura BALAGUÉ*, Spain

C16.5 Consideration of urine miRNomes of pregnant women as potential biomarkers for placental function
Rain INNO*, Estonia

C16.6 High diagnostic yield using whole genome sequencing and an in silico gene panel of 281 genes associated with non-immune hydrops fetalis in a clinical setting
Eini WESTENIUS, Sweden

Room: Hall D
Chairs: Katharina Wimmer and Jose Luis Costa

C17.1 Whole-genome and transcriptome sequencing of 1,063 colorectal cancers reveals novel drivers and prognostic subgroups
Luís NUNES, Sweden

C17.2 Discovery of early clonal gene fusions in malignant pleural mesothelioma (MPM) by matched multiregional tumour exome and transcriptome sequencing
Edward HOLLOX, United Kingdom

C17.3 Integrative genomic and transcriptomic analysis of refractory metastatic cancers
Yoann PRADAT, France

C17.4 Evaluating the spatiotemporal intratumour heterogeneity captured by tumour and plasma profiling in colorectal cancer patients with liver metastasis
Marilena ELPIDOROU*, Cyprus

C17.5 Genetic ancestry inference from tumor profiling data of 100,000 cancer patients
Francisco DE LA VEGA, United States

C17.6 Genome-wide DNA methylation profiling and identification of potential pan-cancer and tumor-specific biomarkers
Joe IBRAHIM, Belgium

Room: Hall E1
Chairs: Matthew Robinson and Tom Richardson

C18.1 LT-Free: a novel method for leveraging family history in genetic association studies of arbitrarily complex diseases
Jamie MATTHEWS, United States

C18.2 A novel Parent-of-Origin inference method for biobanks
Robin J. HOFMEISTER*, Switzerland

C18.3 Quantifying the role of transcript levels in mediating DNA methylation effects on complex traits and diseases
Marie SADLER*, Switzerland

C18.4 A machine-learning approach for disease prediction can reduce misclassification and improve GWAS and polygenic scores
Lisa EICK*, Finland

C18.5 Systematic analysis and prediction of genes associated with disorders on chromosome X
Christel DEPIENNE, Germany

C18.6 Meta-analysis fine-mapping is often significantly miscalibrated at single-variant resolution
Masahiro KANAI, United States

Chairs: Brunhilde Wirth and Sarah Verheyen
Room: Hall E2

C19.1 FOSL2 truncating variants in the last exon cause a new neurodevelopmental disorder with scalp and enamel defects: description of 10 patients
Auriane COSPAIN, France

C19.2 Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Alessandra GUASTO*, France

C19.3 Clinical, genetic, epidemiologic and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14
Adam JACKSON*, United Kingdom

C19.4 Biallelic variants in CRIPT cause Rothmund-Thomson syndrome and genome instability with excessive cellular senescence
Luisa AVERDUNK*, Germany

C19.5 Pathogenic variants in the paired-related homeobox 1 (PRRX1) gene are associated with craniosynostosis
Rebecca TOOZE*, United Kingdom

C19.6 Differential effects of v-ATPase subunit a2 loss vs. specific inhibition on N- and O-glycosylation, neuronal migration, Golgi trafficking and pH regulation as the basis of autosomal recessive cutis laxa type 2A
Johannes KOPP, Germany

Room: Hall F1
Chairs: Malte Spielmann and Artem Kim

C20.1 The impact of germline inversions in the rare-disease arm of the 100,000 Genomes Project
Alistair PAGNAMENTA, United Kingdom

C20.2 Mapping the 3D genome of the human retina and its role in retinal disease
Eva D’HAENE*, Belgium

C20.3 Quantifying the contribution of near-coding variation to rare disease.
Alex GEARY*, United Kingdom

C20.4 Identification of the active enhancer landscape in Neural Stem Cells by ChIP-STARR-seq and validation using zebrafish
Eva MEDICO SALSENCH*, Netherlands

C20.5 A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Alexander BLAKES*, United Kingdom

C20.6 22q11.2 rearrangements caused by NAHR and PATRR-mediated pathways
Lisanne VERVOORT, Belgium

Room: Hall F2
Chairs: Hilde Van Esch and Enza Maria Valente

C21.1 The impact of rare coding genetic variation on adult cognitive function
Heiko RUNZ, United States

C21.2 Damaging rare coding variants in constrained genes are associated with reduced generalised intelligence in the UK Biobank
Eilidh FENNER, United Kingdom

C21.3 Routine transcriptome sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic effects of non-coding, putatively benign and missed variants
Jordy DEKKER*, Netherlands

C21.4 Brain transcriptomic profiling reveals common alterations across neurodegenerative and psychiatric disorders
Iman SADEGHI*, Spain

C21.5 Somatic mosaicism in infantile spasms with brain malformations
Matthew COLEMAN*, Australia

C21.6 Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein
Binnaz YALCIN, France

Room: Hall K
Chairs: Vita Dolzan and Amal Elfatih

C22.1 Solo-RNA sequencing of blood combined with trio-genome sequencing decipher molecular diagnostic of Neurodevelopmental Disorders
Hana SAFRAOU, France

C22.2 Evaluating scientific and clinical factors affecting genomic diagnoses in a large paediatric cohort
Caroline WRIGHT, United Kingdom

C22.3 Genetic assessments of breast cancer risk that do not account for polygenic background are incomplete and lead to incorrect preventative strategies
George BUSBY, United States

C22.4 Integration of clinical AI into health care of patients with rare diseases: experiences in the German national diagnostic framework for molecular testing beyond the exome.
Magdalena DANYEL, Germany

C22.5 Integration of RNA-seq functional evidence into the ACMG/AMP variant interpretation framework
Dmitrii SMIRNOV*, Germany

C22.6 Decreased retinal vascular complexity is an early biomarker of myocardial infarction supported by a shared genetic control

Room: Live Stream Area (Exhibition Hall)
Chairs: Alexandre Reymond and Borut Peterlin

C23.1 Development of methods and tools in NPCs and zebrafish towards modeling of DNA sequence variants in patients with pachygyria by using genome editing technologies
Aykut KURUOGLU, Turkey

C23.2 Elucidating the role of RLS-associated MEIS transcription factors during neural development
Volker KITTKE, Germany

C23.3 Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance
Stefania MAGRI, Italy

C23.4 Identification of molecular signatures and pathways involved in Rett syndrome-spectrum disorders using a multi-omics approach
Clara XIOL, Spain

C23.5 De novo variants in ATP2B1 lead to neurodevelopment delay
Meer Jacob RAHIMI, Germany

C23.6 Mutation Profile of Metastatic Castration-Resistant Prostate Cancer Patients Prior to Olaparib Treatment – EMA vs. FDA

C23.7 ENIGMA effort to standardize the classification of variants disrupting splicing of in-frame exons using BRCA1 exon 18 as an example

C23.8 Systematic functional analysis by hybrid minigenes of CHEK2 splice-site variants detected in the BRIDGES project

C23.9 Genetic determinants of mosaic loss of the X chromosome in peripheral leukocytes of 800K women from 7 biobanks
Aoxing LIU, Finland

C23.10 Genetic and environmental determinants of drug adherence
Mattia CORDIOLI, Finland

C23.11 Utilising drug switches as a proxy for angiotensin-converting enzyme inhibitor-induced cough discovers novel genetic signals
Kayesha COLEY, United Kingdom

C23.12 Identification of shared molecular signatures of ageing and metabolic diseases using multi-omic data
Theodora Dafni MICHALETTOU, United Kingdom

C23.13 Multi-tissue TWAS identifies 137 novel gene associations with ageing outcomes in humans
Georgina NAVOLY, United Kingdom

C23.14 Inclusion of sequencing GWAS (seqGWAS) in GWAS Catalog, data format and future challenges
Maria CEREZO, United Kingdom

C23.15 Deconstructing the genetic component of reported trauma with genomic structural equation modelling
Abigail TER KUILE, United Kingdom

12:00 – 13:00 hrs | Lunch Break, Exhibition, Poster Viewing

12:00 – 13:00 hrs | Corporate Satellites

More information

12:15 – 13:00 hrs | Plenary Session PL3

Room: Hall A
Chairs: Alexandre Reymond and Francesca Forzano

PL3.1 ELPAG Award Lecture

Martina Cornel;

12:45 – 13:45 hrs | Poster Viewing with Authors – Group C

14:00 – 15:30 hrs | Workshops W09-W15

Room: Hall A

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. Please participate by bringing along short PowerPoint presentations of your distinctive unsolved cases or your instructive solved cases to one of the two Dysmorphology Workshops  to be held during the hybrid 2022 ESHG conference in Vienna. 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. As we advance into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.

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 don’t 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 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.

Please bring your presentations on a memory stick to the lecture theatre in the thirty minutes before the sessions begin to book your place for presentation. We look forward to seeing you.

And please remember: given this year’s hybrid conference, it is important that permission has been sought by the responsible clinician from patients/parents for online sharing/presenting.


This workshop will not be recorded and available for on-demand viewing.


Room: Hall D

Although Next Generation Sequencing (NGS) technologies have enormously increased our capability to diagnose rare genetic diseases (RGDs), the interpretation of the vast majority of identified variants remains a major challenge. In this workshop we will focus on variants affecting the Titin gene, representing a real nightmare for geneticists, and variants identified in a prenatal setting when phenotypic features are often incomplete or cannot be assessed (e.g., neurocognitive abnormalities).

The workshop has been designed around a problem-solving learning, with two brief lectures aimed at providing practical guidelines to correctly interpreted variants in the Titin gene and in a prenatal setting, and a hands-on session where participants will be engaged with a live Q&A session aimed at solving instructive real cases.


Room: Hall E1

Scope: This workshop is about European Reference Networks (ERNs), which are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialized treatment, and concentrated knowledge and resources.

Aim: The workshop is aimed at presenting and raising awareness about the European Reference Networks.
This year the Workshop is devoted to the umbrella research infrastructure of SolveRD and the ERN GENTURIS. Examples of research collaborations and main research projects, registry infrastructures, challenges and benefits will be presented.
A general discussion with the audience will occur at the end of the presentations.

Audience: Health Professionals and Scientists working in the field of Human Genetics in Europe.

Attendees will learn about:

  • The EU project SolveRD, its team, research infrastructure and outcomes.
  • An ERN-based research infrastructure and outcomes.
  • How to get involved and participate.

Detailes schedule:

14:00 – 14:05
Carla Oliveira & Bárbara Rivera

14:05 – 14:30
SolveRD: Overview of the main research initiatives and outcomes involving ERNs
Steven Laurie, Centro Nacional de Análisis Genómico – Centre for Genomic Regulation (CNAG-CRG), Barcelona Spain

14:35 – 14:55
Research in the context of the ERN GENTURIS
Janet Vos, Radboud University Medical Center Nijmegen, The Netherlands

14:55 – 15:25
Round Table, Q&A
All participants in the session

15:25 – 15:30
Session closing
Carla Oliveira & Bárbara Rivera

Click here to download the informational flyer about this workshop


Room: Hall E2

Recent developments in cytogenomics and their application

In the first talk entitled “Relationship of the multilayer structure of chromosomes with cytogenomic observations and gene expression”, Joan-Ramon Daban will summarise electron microscopy, atomic force microscopy, and cryo-electron tomography results that led to the proposal of the multilayer organization of chromatin in chromosomes. This model can explain the transverse orientation of bands, band splitting, the existence of thin bands, and the transverse orientation and planar geometry of the connection surfaces in translocations. Together with the audience, he will discuss the possible functional roles of multilayer chromatin in gene expression and DNA replication and repair.

In her talk “Optical genome mapping enables Next-Generation Cytogenetics“ Laïla El Khattabi will first present the major findings of her recently published study (Mantere, Neveling et al., Am J Hum Genet 2021) highlighting the performance and contribution of OGM in the characterization of structural variations (SVs) even complex ones. Then, she will show so far unpublished results from (i) a comparative study between OGM and short read genome sequencing to detect and characterize apparently balanced SVs, and (ii) the use of OGM to provide new insights into the role of balanced reciprocal translocations in defects of gametogenesis.

Learning outcome

Together with the audience, use and future applications of the knowledge on chromosome structure and optical genome mapping will be discussed. We hope to add new perspectives to the future role of cytogenomics in research and diagnostics.


Room: Hall F1

The workshop will highlight some of the ethical issues which genomics raises for patients, families, scientists, clinicians, and researchers.

In this workshop, participants will develop

  • an understanding of how and why scientists and other professionals in genomics need to take part in social and ethical debates more actively,
  • an understanding of how cultural issues and faith beliefs are often entwined with ethical issues.

The in-person and online participants will be able to engage and interact with the workshop speakers by making comments and asking questions during the workshop and the panel discussion.


1. Human genetic research in the age of mass surveillance
Professor Yves Moreau

2. It’s not what you know, but how you perceive it
Dr Khadijah Bakur

3. First, do no harm. Problems with genetic testing in private healthcare: the Eastern European context
Dr Andrada Ciucă


Room: Hall F2

This workshop is focused on pharmacogenomics. It presents how to increase the safety and effectiveness of current drug treatments and provides discussion regarding different pharmacogenetic testing alternatives.

Participants will learn about pharmacogenetic resources, basic concepts that support implementation of pharmacogenomics in the clinic and new avenues for preemptive approaches.

At the end of each presentation block the presenters will interact with participants via a voting system and live Q&A. Feedback will be actively encouraged. At the end of the workshop, a roundtable will take place for interactive discussion between presenters and participants.


Room: Hall K

Science Communication masterclass: whether trying to reach the public, media or policy makers, BBC journalist Vivienne Parry can help you communicate more effectively with top tips, personal advice and a series of practice sessions with volunteers. And if you have a question about how to communicate a particular topic, or want some advice about the media, Vivienne with her years of broadcast experience will be answering questions live.

14:15 – 15:45 hrs | Corporate Satellites

More information

15:45 – 16:00 hrs | Fruit Break, Exhibition, Poster Viewing

15:45 – 16:45 hrs | Poster Viewing with Authors – Group D

17:15 – 18:45 hrs | Concurrent Symposia S17-S22 & Educational Session E13

Room: Hall D
Chairs: Alexandre Reymond and Erica Davis

S17.1 When genetic tests and biobanks might cause discrimination

Veronika Lipphardt;

S17.2 Ethics and Equity: Addressing Systemic Racism in the Genomics Research Ecosystem

Sandra Soo-Jin Lee;
United States

S17.3 Forensic genetics: When prosecution goals lead to persecution

Denise Syndercombe Court;
United Kingdom

S17.4 Misuses of genetic tests

Yves Moreau;

Room: Hall E1
Chairs: Lars Feuk and Jasmin Blatterer

S18.1 Genetic variation in the human brain

Christopher Walsh;
United States

S18.2 Somatic mutations in the haemopoietic system

Ana Cvejic;
United Kingdom

S18.3 Clonal hematopoiesis and risks for cardiovascular and severe infectious diseases

Pradeep Natarajan;
United States

Room: Hall E2
Chairs: Zoltan Kutalik and Matthew Robinson

S19.1 Whole-genome regression approaches for biobank-scale data

Jonathan Marchini;
United States

S19.2 Genetic architecture of time-to-event phenotypes

Matthew Robinson;

S19.3 Moving polygenic scores from research to the clinic

Cathryn Lewis;
United Kingdom

Room: Hall F1
Chairs: Ramona Moldovan and Tara Clancy

S20.1 Concerns against genetic discrimination – A perspective from Japan

Kaori Muto;

S20.2 The lessons learned from the role of religion and spirituality on the lived experience of Muslim patients with genetic disorders

Khadijah Bakur;
Saudi Arabia

S20.3 Cross cultural communication in healthcare

Sasha Henriques;
United Kingdom

Room: Hall F2
Chairs: Gökhan Uyanik and Valérie Cormier-Daire

S21.1 Genetics and Therapy of Osteogenesis Imperfecta

Nick Bishop;
United Kingdom

S21.2 New therapies targeting FGFR3-related skeletal disorders: changing the rules of the game

Ravi Savarirayan;

S21.3 Diagnosis and Therapy of Hypophosphatasia

Roland Kocijan;

Room: Hall K
Chairs: Christian Gilissen and Alexander Hoischen

S22.1 The intolerance to functional genetic variation of protein domains

David Goldstein;
United States

S22.2 Regional genetic intolerance

Kaitlin Samocha;
United Kingdom

S22.3 Genome-wide selection inference at short tandem repeats

Melissa Gymrek;
United States

Room: Hall A
Chairs: Ellen Heitzer

E12.1 Regulatory networks and noncoding regions of the human genome

Michael P. Snyder;
Untited States

E12.2 Global reference mapping of regulatory elements in the human genome

John A. Stamatoyannopoulos;
Untited States

20:00 | ESHG Networking Evening (at own expense)

*An asterix indicates that the presenter is an Early Career Award Candidate

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