Please note that all times below refer to British Summer Time (GMT+1)


08:30 – 10:00 hrs | Concurrent Symposia S11-15 & Educational Sessions E11-E12

Room: Hall 5
Chairs: Alex Reymond

S11.1 T2T genomes of multiple individuals

Adam Philippy;
United States

S11.2 Centromere variation and evolution

Glennis Logsdon;
United States

S11.3 The reference genome

Valerie Schneider;
United States

Room: Hall 2
Chairs: Carla Oliveira

S12.1 Patient-derived organs-on-chips as genetic disease models

Donald Ingber;
United States

S12.2 Engineered muscle models of genetic disease

Malte Tiburcy;

S12.3 Current challenges in developing in vitro stem cell based models for inherited vascular diseases

Franck Lebrin;

Room: Lomond Auditorium
Chairs: Zoltan Kutalik

S13.1 Drug target landscape of immune traits

Julian Knight;
United Kingdom

S13.2 Strategies for the identification of causal variants

Nicole Sorenzo;

S13.3 The long journey from GWAS SNPs to drug target genes

Brent Richards;

Room: M1
Chairs: Cristina Rodriguez-Antona

S14.1 Hereditary renal cell carcinoma syndromes

Eamonn R. Maher;
United Kingdom

S14.2 The genetic evolution of Renal Cell Carcinoma

Samra Turajlic;
United Kingdom

S14.3 Molecular genetics and precision medicine in renal cancer

James Brugarolas;
United States

Room: Forth Room
Chairs: Thomas Eggermann

S15.1 Regulation of gene expression in human placenta and its disturbances

David Monk;
United Kingdom

S15.2 Placental dysfunction and pregnancy outcome: an interdisciplinary challenge (view from a prenatal medicine)

Karl Oliver Kagan;

S15.3 The placenta, reproductive and cardiovascular health: the need for population based placental sciences

Abigail Fraser;
United Kingdom


Room: Clyde Auditorium
Chairs: Kelly Ormond

E11.1 Sex, gender, and pedigrees in clinical genetics: What to record, how to record it, and why

Jehannine Austin;

E11.2 Gender Affirming Genetics Practices

Kimberly Zayhowski;
United States

Room: Hall 1
Chairs: Karin Writzl and Hülya Kayserili

E12.1 RASopathies: clinical manifestations and therapy

Martin Zenker;

E12.2 RASopathies: pathways, genes and mechanisms

Marco Tartaglia;

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 5
Chairs: tba

C16.1 Application of RNA sequencing in genetic diagnosis of fetal structural abnormalities
Sze Shing Fan, Hong Kong

C16.2 Biallellic variants in SNAPIN are associated with a novel foetal neuroanatomical phenotype
Maayke de Koning, Netherlands

C16.3 Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
Anna Gerasimenko, France

C16.4 Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies assessment through an international cohort study
Guillaume Jouret, Luxembourg

C16.5 Maternal age-independent human aneuploidies are common and associated with mitochondrial disfunctions: analysis of 11,610 genomes of human embryos
Natalia Ree, Russian Federation

C16.6 Prenatal and lethal phenotypes of Mendelian disorders: a cross-species comparison
Pilar Cacheiro, United Kingdom

Room: Clyde Auditorium
Chairs: tba

C17.1 Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
Henri Niskanen, Germany

C17.2 Exome copy number variant (CNV) detection, analysis, and curation from 6,678 families with undiagnosed rare genetic disease
Gabrielle Lemire, United States

C17.3 Saturation mutagenesis data facilitate the interpretation of noncoding variants in the IRF6 enhancer associated with nonsyndromic cleft-lip w/o cleft palate
Ronja Hollstein, Germany

C17.4 Assessing tissue-specific effects of rare and structural variants towards gene regulation with the EN-TEx personal genome resource
Matthew Jensen, United States

C17.5 eQTLGen phase 2: Genome-wide trans-eQTL analysis in blood in over 30,000 individuals provides insight into the genetic architecture of molecular traits
Robert Warmerdam, Netherlands

C17.6 Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation
Alejandro Martin Trujillo, United States

Room: Hall 2
Chairs: tba

C18.1 Biallelic inactivating variants in DMAP1 underlie a syndromic neurodevelopmental disorder
Dong Li, United States

C18.2 De novo variants in DENND5B perturb intracellular vesicular trafficking and cause neurodevelopmental disorders with epilepsy and white matter abnormalities.
Marcello Scala, Italy

C18.3 Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder
María del Rocío Pérez Baca, Belgium

C18.4 A novel neurodevelopment syndrome caused by recessive variants in the FSD1L gene
Valentina Serpieri, Italy

C18.5 LHX2 haploinsufficiency causes a variable neurodevelopmental disorder
Christiane Zweier, Switzerland

C18.6 De novo variants in KCNA3 cause developmental and epileptic encephalopathy
Johannes Lemke, Germany

Room: Lomond Auditorium
Chairs: tba

C19.1 Inferring comprehensive disease signatures with machine learning from UK Biobank biomarkers and other quantitative traits to enhance PheWAS analyses
Manik Garg, United Kingdom

C19.2 Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
Simone Rubinacci, Switzerland

C19.3 ADuLT: Fast and powerful alternative to time-to-event GWAS
Emil Pedersen, Denmark

C19.4 Fine-mapping genome-wide association studies with missing genotype data
Joonas Kartau, Finland

C19.5 Detection of assortative mating on complex traits in the absence of spousal information
Yuanxiang Zhang, Australia

C19.6 GestaltMatcher supports lumping and splitting decision-making by facial phenotype descriptors
Hannah Klinkhammer, Germany

Room: M1
Chairs: tba

C20.1 Diagnostic yield and short-term clinical implications of nationwide germline whole genome sequencing in 280 children with solid tumors
Bianca Tesi, Sweden

C20.2 Genome-wide polygenic risk scores substantially impact colorectal neoplasm risk with implications for stratified screening
Max Tamlander, Finland

C20.3 Large scale case-control analyses of rare variant data; application to BRCA1 and BRCA2
Denise G. O’Mahony, Cyprus

C20.4 Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction: results from an international multicenter-study
Anja Tüchler, Germany

C20.5 Data from the SWEP53 study: Whole-body MRI surveillance in gTP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer
Meis Omran, Sweden

C20.6 Integrating Polygenic Risk Scores into clinical breast cancer models improves prediction in diverse cohorts
paolo Di Domenico, Italy

Room: Forth Room
Chairs: tba

More information will follow soon.

Room: Hall 1
Chairs: tba

C22.1 Long-read sequencing reveals novel transcripts induced by misexpression of DUX4 in FSHD muscle
Dongxu Zheng, Netherlands

C22.2 D4Z4 methylation analysis combined with machine learning pipelines: a novel tool for the rapid identification of FSHD subjects
Valerio Caputo, Italy

C22.3 Establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
Michiel Vanhooydonck, Belgium

C22.4 Long-read RNA-sequencing identifies novel protein coding transcripts of genes with implications for inherited and complex cardiac disease
Rhys Dore, United Kingdom

C22.5 Loss-of-function variants in POPDC2 cause a novel autosomal recessive syndrome with sinus node disease and AV conduction defects in combination with hypertrophic cardiomyopathy
Najim Lahrouchi, Netherlands

C22.6 Functional analysis of LDLR variants using automated systems to improve rare-variant association studies and risk assessment in hypercholesterolemia
Simon Pfisterer, Finland

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

12:15 – 13:15 hrs | ESHG General Assembly | Room M1


12:00 – 13:00 hrs | Corporate Satellites

More information

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

14:00 – 15:30 hrs | Workshops W12-W18

Room: Hall 5
Chairs: Elisa Giorgio, Tania Attie-Bitach

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 identified in a prenatal setting when phenotypic features are often incomplete or cannot be assessed (e.g. neurocognitive abnormalities) and in postnatal cases with complex or atypical phenotypes.

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

Room: Clyde Auditorium

More information will be available in March/April 2023.

Room: Hall 2
Chairs: Christian Gilissen, Can Ding

The goal of the workshop is to discuss technical and interpretation challenges for variants in a diagnostic setting so participants will be able to prevent mistakes in the analysis and interpretation of variants from NGS data. During the workshop participants will engage with the speakers through interactive presentations and discussions of case studies.

Room: Lomond Auditorium
Chairs: Tara Clancy, Michael Parker

This workshop will provide participants with the opportunity
1) to find out more about and to discuss the ethical issues which genetics/genomics raises for patients, families, scientists, clinicians and researchers and
2) to learn from real life (anonymised) cases.

The learning outcomes will be developing
1) a deeper understanding of the ethical dimensions of good practice and
2) an appreciation of the skill of using experiences to help with reflective practice.

Room: M1
Chairs: Francesca Forzano, Robert Taylor

Workshop focus:

What is our impact on climate change? What can professionals in genetics do to minimize this impact, whether in clinic or in the lab?

What is the impact of climate change on human health and which are the genomic implications?

Which might be avenues to explore for future research?


1. Measures of climate change and implications for human life – challenging the resilience of the planet and ecosystems.
Hayley Fowler (Professor of Climate Change Impacts, Newcastle University)

2. Net zero emissions in healthcare, examples from UK NHS
Martin Farley (Sustainable Laboratory Manager, University College London)

3. Healthcare impact of climate change, particularly related to the heath. How people react to heat, is there a genetic reason for different reactions? Can we identify ppl who might respond poorly, so to be able to protect them more?
Chantal Babb de Villiers (Senior Policy Analyst, The PHG Foundation)

4. Round Table: We will build in the bigger picture with talks, and discuss potential solutions in the round table.

Room: Forth Room
Chairs: Cristina Rodriguez-Antona, Henk Jan Guchelaar

This workshop provides basic concepts in Pharmacogenetics and includes a debate about clinical implementation. In addition, patient advocates organization will provide a testimony.


– What is PGx and where do we stand?
– Testimony from patient advocates for DPYD/DPD testing

DEBATE: Pharmacogenetics: The time for implementation is now? Pros versus Cons
– Interaction between debaters and audience

– Results of polling system
– Questions from audience & online chat

Room: Hall 1
Chairs: Pablo Lapunzina, Jet Bliek

The Workshop will focus on molecular testing of imprinting disorders. Attendants will gain knowledge about the general background and pittfalls of diagnostic testing for imprinting disorders. A general introduction on ID’s and molecular diagnostics will be followed by 3-4 short descriptions of cases with a challenging molecular outcome.

14:00 – 15:30 hrs | Get2Gether IVDR

Room: Boisdale

IVDR is a challenge for all of us, the greatest challenge is keeping “orphan” diagnostics available

Hosts: Els Dequeker, Milan Macek, Gunnar Douzgos Houge

This Get2gether session focuses on the in vitro diagnostic regulation, IVDR, which has been in force since May 2022. This regulation brings many changes, including many definitions, new routes for conformity assessment, new designations for notified bodies and, for the first time, new requirements for health institutions developing in-home IVD devices.  For different stakeholders, such as IVD manufacturers, IVD industry suppliers, and health institutions, there are still many obstacles to overcome and ambiguities to address.

This Get2gether is aimed at informing and explaining frequently asked questions within the genetic laboratories, what steps ESHG has taken in function of ‘orphan’ diagnostics, how a process to CE marking takes place, and how industry and genetic laboratories can work together.

The session will conclude with a general discussion with a panel of experts from different stakeholders based on pre-prepared and shared questions.

Attendees will learn about:

  • Requirements and implications of the IVD regulation
  • Understanding the implications for industry and health institutions
  • Opinions, tips and tricks from different stakeholders on to working on IVDR compliance



Get2gether session speakers will have 20 minutes each to discuss their topic. The last 30 min will be given to a panelists with different stakeholders, such as lab staff, clinicians, industry staff, notified bodies, competent authorities, …to ask their view, tips and tricks to work together to IVDR compliance. We also like to ask the opinion of the audience with asking poll-questions.



Speakers: (3×20 min including 3 questions of audience)

  • Insight into the main elements of IVDR and initiatives ESHG took to help genetic diagnostic laboratories (Els Dequeker, University of Leuven, Liaison for the ESHG in the Task Force of IVDR Biomed Alliance)
  • Process to CE-marking for a genetic test (Alex Laan, Head of the IVD Notified Body BSI The Netherlands)
  • Where can genetic diagnostic laboratories help industry and vice versa (Maurizio Suppo, Co-owner/VP QARAD)

Panel discussion

14:00 – 15:30 hrs | Corporate Satellites

More information

15:30 – 15:45 hrs | Fruit Break, Exhibition, Poster Viewing

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

17:00 – 18:30 hrs | Concurrent Symposia S16-S20 & Educational Session E13-E14

Room: Hall 5
Chairs: TBA

S16.1 Systematically editing the human genome at scale

Greg Findlay;
United Kingdom

S16.2 Novel high throughput functional genomics approaches

Jozef Gecz

S16.3 Functional characterization of genetic variation affecting expression

Tuuli Lappalainen;

Room: Clyde Auditorium
Chairs: Christian Gilissen and Rob Taylor

S17.1 Diagnostic applications of long-read RNAseq

Mina Ryten;
United Kingdom

S17.2 Toward improved diagnosis of genetic disease with nanopore long-read sequencing

Ira Deveson;

S17.3 Characterisation of the 22q11.2 Low copy repeats

Joris Vermeesch;


Room: Lomond Auditorium
Chairs: Juliana Miranda Cerqueira and Rita Matos

S18.1 Training researchers to engage with patients: the importance of co-creation

Emma Dorris;

S18.2 Engaging patients in clinical trials endpoints: A Gaucher Disease Registry perspective

Tanya Collin-Histed;
United Kingdom

S18.3 Inclusive genetics research with people with intellectual disability

Elizabeth Palmer;

Room: Forth Room
Chairs: Karoline Kuchenbaecker and Rhys Dore

S19.1 Mexican Biobank advances population and medical genomics of diverse ancestries

Mashaal Sohail;

S19.2 Population genetics in an era of genomic health

Eimear Kenny;
United States

S19.3 BioBank Japan and what we have learnt so far

Yukinori Okada;

Room: Hall 1
Chairs: TBA

S20.1 Susceptibility to pediatric cancer

William D Foulkes;

S20.2 Precision medicine for advanced pediatric tumors

Pablo Berlanga;

S20.3 Characterizing the mutational consequences of therapy in childhood cancer survivors using single-cell genome sequencing

Ruben van Boxtel;

Room: Hall 2
Chairs: Alexander Hoischen

E13.1 Naked-mole rat and aging

Vera Gorbunova;
Untited States

E13.2 Evolution of somatic mutation rates

Alex Cagan;
Untited Kingdom

Room: M1
Chairs: Alexandre Reymond

E14.1 Enhancer-promoter interactions

Luca Giorgetti;

E14.2 Resolution of regulatory conflicts through genome 3D-restructuring

Michael Robson;

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

*An asterisk 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