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


08:30 – 10:00 hrs | Concurrent Symposia S01-06 & Educational Session E08

Room: Hall A
Chairs: Andrew Sinclair and Sarah Verheyen

S01.1 RCS in Australia

Martin Delatycki;

S01.2 Israel carrier screening program

Amihood Singer;

S01.3 Reproductive carrier screening in the Netherlands

Lidewij Henneman;

Room: Hall E1
Chairs: Matti Pirinen and David Schoerghofer

S02.1 Ancestry deconvolution and polygenic scores

Luca Pagani;

S02.2 Methods of including admixed individuals in association studies

Elizabeth Atkinson;
United States

S02.3 Fine-scale structure and GWAS studies in the admixed Greenlandic population

Anders Albrechtsen;

Room: Hall E2
Chairs: Barbara Rivera and Jochen Geigl

S03.1 Breast cancer risk genes by populations

Tuya Pal;
United States

S03.2 Personalising breast cancer risk prediction for prevention and early detection

Antonis Antoniou;
United Kingdom

S03.3 Adjuvant olaparib for patients with BRCA1- or BRCA2- mutated breast cancer

Andrew Tutt;
United Kingdom

Room: Hall F1
Chairs: William Newman and Han Brunner

S04.1 Assessing the impact of a pilot community-based genomic medicine training in Africa

Victoria Nembaware;
South Africa

S04.2 Ensuring best practice in genomics education and evaluation

Clara Gaff;

S04.3 How to engage with patients with rare genetic conditions

Nichola Garde;
United Kingdom

Room: Hall F2
Chairs: Elisa Giorgio and Zeynep Tümer

S05.1 Chromothripsis mechanisms along the landscape of diverse constitutional chromosome rearrangements

Maria Clara Bonaglia;

S05.2 Identification of complex genomic rearrangements structures in disease

Claudia Carvalho;
United States

S05.3 Chromothripsis in cancer genomes

Peter Park;
United States

Room: Hall K
Chairs: Nicola Brunetti-Pierri and Peter Krawitz

S06.1 Disorders of the HOPS complex

Fredrik Sterky;

S06.2 Inherited disorders due to defective autophagy

Heinz Jungbluth;
United Kingdom

S06.3 mTORC1 hyperactivity in Birt-Hogg-Dubé syndrome

Chiara Di Malta;

Room: Hall D
Chairs: Joris Veltman

E08.1 Host susceptibility to viral infections including COVID-19

Kenneth Baillie;
United Kingdom

E08.2 NGS-based diagnostics of COVID-19

Kerstin Ludwig;

08:30 – 10:00 hrs | Corporate Satellites

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

10:30 – 12:00 hrs | Concurrent Sessions C08-C15 from submitted abstracts

Room: Hall A
Chairs: David Schoerghofer and Lot Snijders Blok

C08.1 Activating RAC1 variants in the switch II region cause a novel developmental syndrome and alter neuronal morphology that can be rescued by targeting CYFIP
Siddharth BANKA, United Kingdom

C08.2 Mutation-specific pathophysiological mechanisms of AFF3
Sissy BASSANI*, Switzerland

C08.3 Structural variants disrupt a critical regulatory region downstream of FOXG1
Sarah VERGULT, Belgium

C08.4 FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model
Anne GREGOR, Switzerland

C08.5 Clinical and molecular understanding of DYRK1A syndrome, a frequent monogenic form of neurodevelopmental disorder
Amelie PITON, France

C08.6 Contribution of non-coding de novo NIPBL variants to Cornelia de Lange syndrome
Juliette COURSIMAULT, France

Room: Hall D
Chairs: Bart Loeys and Ales Maver

C09.1 MDFIC mutations cause autosomal recessive Complicated Lymphatic Anomaly
Pascal BROUILLARD, Belgium

C09.2 A new Smad4 mouse model mimicking Myhre Syndrome?
Zakaria MOUGIN*, France

C09.3 Heritable pulmonary hypertension: first genotype-phenotype study in TBX4 syndrome
Matina PRAPA, United Kingdom

C09.4 Unravelling a novel congenital muscular dystrophy
Marwan NASHABAT, Turkey

C09.5 Interactions between muscle glucose homeostasis and neuromuscular signal transduction – Lessons learned from lack of a muscle-specific long isoform of GFPT1 –

C09.6 Arteriovenous malformations: new genetic and clinical course data in a cohort of 100 patients

Room: Hall E1
Chairs: Enza Maria Valente

C10.1 The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology
Lea Dewi SCHLIEBEN, Germany

C10.2 Heterozygous variants in NEK8 kinase domain cause an autosomal dominant ciliopathy
Laura CLAUS, Netherlands

C10.3 TSHZ3 is mutated in human CAKUT
Esra KESDIREN*, Germany

C10.4 Development of a new cellular model to understand genotype-phenotype correlations in patients with polycystic kidney disease exploiting CRISPR/Cas9 system
Martina MIGLIORERO, Italy

C10.5 Loss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis
Ricardo MORENO TRASPAS*, Singapore

C10.6 Mapping the effects of human gene knock-outs on immune cells using single cell transcriptomics
Teng Hiang HENG, United Kingdom

Room: Hall E2
Chairs: Brunella Franco and Lisa Ofner-Ziegenfuss

C11.1 Discovery and pharmacological treatment of Bachmann-Bupp Syndrome, caused by de novo pathogenic ODC1 variant, in children with developmental delay, alopecia, and hypotonia
Andre BACHMANN, United States

C11.2 Interventional genomics approaches in a neurodevelopmental syndrome
Udai PANDEY, United States

C11.3 Thalidomide is an Efficient Treatment for Symptomatic and/or Life-Threatening Arteriovenous Malformations
Mikka VIKKULA, Belgium

C11.4 Identifying disorder-specific DNA methylation signatures in patients with severe developmental disorders
Juliet HAMPSTEAD*, Netherlands

C11.5 Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease
Alison COFFEY, United States

C11.6 Rapid rare disease diagnosis on a national scale: an integrated multi-omic approach
Zornitza STARK, Australia

Room: Hall F1
Chairs: Inga Prokopenko and Chiara Auwerx

C12.1 Large scale multi-trait genome-wide association analysis identifies hundreds of glaucoma risk loci
Stuart MACGREGOR, Australia

C12.2 Estimating age-specific genetic effects for age-at-onset phenotypes
Sven Erik OJAVEE*, Switzerland

C12.3 Genetic architecture of longitudinal obesity trajectories in primary care electronic health records
Samvida VENKATESH*, United Kingdom

C12.4 Disentangling the aetiological pathways between body mass index and site-specific cancer risk using tissue-partitioned Mendelian randomization
Genevieve LEYDEN*, United Kingdom

C12.5 Phenome-wide association study of clonal haematopoiesis somatic mutations in 422,456 UK Biobank participants
Jonathan MITCHELL, United Kingdom

C12.6 Effect of sex and age on disease prediction with polygenic scores in INTERVENE
Brooke WOLFORD, Norway

Room: Hall F2
Chairs: Celine Lewis and Tatiane Yanes

C13.1 What is the impact of BRCA1/2 status on young women’s reproduction and relationships after predictive testing? An Australian case-control study
Laura FORREST, Australia

C13.2 Making the right choice. How unaffected women carrying BRCA1/BRCA2 germline pathogenic variants decide for prophylactic mastectomy to reduce cancer risk.
Maria CAIATA-ZUFFEREY, Switzerland

C13.3 A cross-country comparison of women’s perspectives on non-invasive prenatal testing in Belgium and the Netherlands
Lore LANNOO, Belgium

C13.4 GeneEQUAL: Inclusive research to gain insights into the knowledge, perspectives, and experiences of people with intellectual disability about genomic healthcare
Emma PALMER*, Australia

C13.5 Patient perspectives on the offer of information letters from healthcare to relatives at risk for hereditary cancer: a qualitative study
Charlotta NÄÄS*, Sweden

C13.6 Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program
Karuna VAN DER MEIJ, Netherlands

Room: Hall K
Chairs: Joris Veltman and Christian Gilissen

More information will be available soon

Room: Live Stream Area (Exhibition Hall)
Chairs: Alexandre Reymond and Maurizio Genuardi

C15.1 Exploring genotype-phenotype correlations, penetrance and expressivity of HOXD13 associated synpolydactyly in a cohort of 17 families with HOXD13 variants
Annika GOTTSCHALK, Germany

C15.2 Contribution of SHOX gene sequencing in the etiological diagnosis of short stature
Camille PORTERET, France

C15.3 Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
Josephina (Jeannette) MEESTER, Belgium

C15.4 Pathogenic LEF1 variants disrupt WNT signaling to cause ectodermal dysplasia associated with limb malformations
Maria ASIF, Germany

C15.5 Disruption of zfhx4 leads to defects in zebrafish craniofacial development matching human characteristics of nonsyndromic cleft lip with cleft palate
Selina HÖLZEL, Germany

C15.6 A biallelic gain-of-function variant in MSGN1 causes a new skeletal dysplasia syndrome
Asuman KOPARIR, Germany

C15.7 Genetic testing outcomes in a cohort of 21,159 children with heart disease
Flavia FACIO, Italy

C15.8 Heart transcriptome profile of a novel transgenic mouse model for arrhythmogenic cardiomyopathy
Martina CALORE, Netherlands

C15.9 Novel loss of function KCNA5 pathogenic variants in pulmonary arterial hypertension
Natalia GALLEGO, Spain

C15.10 ATAD3 knockout model in zebrafish
Shlomit EZER, Israel

C15.11 A fatal progeroid syndrome caused by a recessive RAF1 loss-of-function mutation

C15.12 Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Marie-Claire CORNIPS, Netherlands

C15.13 Differential alternative splicing analysis to link variation in ZRSR2 to a novel syndrome with oral, digital and brain anomalies
Laurens HANNES, Belgium

C15.14 Investigating Rho dysregulation in Adams-Oliver syndrome as a model of vascular development
Clare BENSON, United Kingdom

C15.15 Deep intronic mutations, alternative splicing and complex chromosomal rearrangements in the DMD gene: genetic diagnosis of dystrophinopathies through mRNA analysis

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

12:15 – 13:15 hrs | How to get published in the European Journal of Human Genetics – Hall K

12:00 – 13:00 hrs | Corporate Satellites

More information

13:00 – 14:00 hrs | Poster Viewing with Authors – Group A

14:15 – 15:45 hrs | Workshops W02-W08

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

The workshop is about fetal exome sequencing. We will describe how a national service has been implemented in England and highlight some issues that have arisen. We will then discuss a variety of cases.

Learning objectives:
Understanding the complexities of implementing exome sequencing for fetal abnormalities, the need for multidisciplinary team working and understand complexities of reporting.

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

Room: Hall E1

The workshop will demonstrate the latest features introduced into the UCSC Genome Browser, included Recommended Track Sets for SNVs and CNVs. Participants will learn straightforward ways to configure the Genome Browser for optimal access to human genomic data.

The new features will be presented shortly, followed by a problem set with a poll for participants to provide their answers. There will also be a Q&A period at the end.

Room: Hall E2

This workshop will introduce participants to how the Ensembl Variant Effect Predictor can be used to interpret genetic variation in clinical research in the context of Ensembl/GENCODE annotation and MANE transcripts. The session will include a presentation on the Ensembl/GENCODE and MANE annotation processes and variation data resources. This will be followed by a live demonstration of the Ensembl genome browser and Variant Effect Predictor (VEP. The participants will have the opportunity to go beyond the demonstration and try exercises/questions that explore the Ensembl VEP tool.

Participants will be encouraged to follow-along with the live demonstrations on their personal devices. Live polling of short exercises/questions will be embedded throughout the presentation and demonstration to allow participants to practise using the Ensembl genome browser.

By the end of the workshop participants will be able to:

  • Outline the Ensembl/GENCODE and MANE annotation processes and their application to the interpretation of genetic variation.
  • Perform an analysis of a variation dataset using the Ensembl VEP.
  • Interpret the output from the Ensembl VEP and filter to prioritise variants of interest.

Room: Hall F1

This session will critically consider different perspectives and approaches globally to ‘opportunistic screening’ (also known as searching for secondary findings in the course of clinical sequencing).

By the end of this workshop, participants will be able to:

  • Understand the various terms/nomenclature being used in the debate over opportunistic screening;
  • Appreciate the elements of the debate over what constitutes testing and screening, including where the boundary between these might be drawn; and
  • Articulate and critically reflect on their own position on opportunistic screening

Detailed schedule:

Opportunistic genomic screening: Recommendations by the ESHG.
Prof Guido de Wert

Why is now the right time to be implementing Opportunistic Screening?
Prof Daniel MacArthur

What are patients’ experiences with being offered Opportunistic Screening?
Dr Melissa Martyn

What is the value of Opportunistic Screening compared to the likely impact on healthcare systems?
Prof Brenda Wilson

Room: Hall F2

Various aspects of the detection, interpretation and classification of structural variants (SVs), including copy number variant (CNVs) in a diagnostic setting will be discussed in this interactive session. Data including multi-, intra- and intergenic SVs and/or CNVs detected by either genome wide array analysis or in Whole Exome/Genome Sequencing data will be presented.

The aim of this workshop is to focus on various aspects of the detection of structural chromosomal variants, including gains, losses, inversions and rearrangements, in particular using sequence-based methods, and the subsequent interpretation and classification in a diagnostic setting. We will focus on multi-, intra- and intergenic CNVs detected by genome wide array analysis, as well as the detection of CNVs and other SVs in Whole Exome/Genome Sequencing data. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, that may include reduced-penetrant, recurrent CNVs, noncoding CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.

Participants are encouraged to send questions, comments or suggestions related to this topic by e-mail to before June 9, 2022.

14:15- 15:45 hrs | Corporate Satellites

More information

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

16:00 – 17:00 hrs | Poster Viewing with Authors – Group B

17:15 – 18:45 hrs | Concurrent Symposia S07-S11 & Educational Sessions E09-E10

Room: Hall D
Chairs: Nicola Brunetti-Pierri and Michael Speicher

S07.1 Novel roles of LIS1 and implications for brain structure

Orly Reiner;

S07.2 Modelling human blastocysts by reprogramming fibroblasts

Jose Polo;

Room: Hall E1
Chairs: Johannes Zschocke and Holger Prokisch

S08.1 Regulation of mitochondrial gene expression

Michal Minczuk;
United Kingdom

S08.2 Treatment of inherited mitochondrial disorders

Shamima Rahman;
United Kingdom

S08.3 Inherited disorders of metabolite repair

Emile van Schaftingen;

Room: Hall E2
Chairs: Christian Gilissen and Lisa Ofner-Ziegenfuss

S09.1 Methods for mutational signatures

Ludmil Alexandrov;
United States

S09.2 Mutational signatures in cancer

Fran Supek;

S09.3 Mutational signatures in the germline

Shamil Sunyaev;
United States

Room: Hall F2
Chairs: Hülya Kayserili and Franco Laccone

S10.1 Mollecular cellular basis of left-right asymmetry in vertebrates

Hiroshi Hamada;

S10.2 Myosin1 proteins as evolutionarily conserved regulators of animal Left-Right asymmetry

Maximilian Fürthauer;

S10.3 Left-right patterning in fetuses: What have we learned

Bruno Reversade;

Room: Hall K
Chairs: Alexandre Reymond and Matti Pirinen

S11.1 Population history and biological adaptation in Oceania

Luis Quintana-Murci;

S11.2 The genomic history of the Aegean palatial civilizations

Anna Sapfo Malaspinas;

S11.3 Genomic perspectives on the peopling of the Caribbean

Hannes Schroeder;

Room: Hall A
Chairs: Cristina Rodriguez-Antona

E09.1 Moving pharmacogenetics into practice

Munir Pirmohamed;
United Kingdom

E09.2 Pharmacogenomics knowledge for personalized medicine

Michelle Whirl-Carrillo;
United States

Room: Hall F1
Chairs: Kelly Ormond

E09.1 10 years of the Genetic Counselling Outcome Scale (GCOS)

Marion McAllister;
United Kingdom

E09.2 Systematically defining genetic counselling processes and outcomes in the United States

Heather Zierhut;
United States

19:00 – 20:00 hrs | ESHG General Assembly

19:00 – 20:30 hrs | Corporate Satellites

More information

*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