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


09:00 – 10:30 hrs | Concurrent Symposia S21-S24 & Educational Sessions E15-E16

Room: Hall 3
Chairs: Christian Schaaf

S21.1 Lumping vs. splitting – how to approach defining a disease for accurate curation

Courtney Thaxton;
United States

S21.2 International efforts for gene curation and the interpretation of genome variation

Julia Foreman;
United Kingdom

S21.3 A framework for an evidence-based gene list relevant to autism spectrum disorder

Jacob Vorstman;

Room: Clyde Auditorium
Chairs: Tania Attie-Bitach and Raquel Silva

S22.1 Prenatal exome sequencing – facing uncertainty

Antoni Borrell;

S22.2 AI in fetal imaging: a window to the future

John Simpson;
United Kingdom

S22.3 Decision making around prenatal genomic tests

Melissa Hill;
United Kingdom

Room: Hall 2
Chairs: Serena Nik-Zainal

S23.1 Hidden germline variants in Lynch syndrome

Richarda de Voer;

S23.2 The role of untranslated region variants that alter translational regulation in cancer

Nicky Whiffin;
United Kingdom

S23.3 Genome-wide analysis of somatic noncoding mutation patterns in cancer

Felix Ditlein;
United States


Room: Lomond Auditorium
Chairs: Francesca Forzano and Rhys Dore

S24.1 Economics of Precision Medicine and Genomic Technologies

Ilias Goranitis;

S24.2 The economics of genomics within resource-limited environments

George Patrinos;

S24.3 Genetics and economic inequality

Pietro Biroli;

Room: Hall 5
Chairs: Gemma Chandratillake

E15.1 Genetic Diagnosis of Hearing Loss

Barbara Vona;

E15.2 Gene Therapies for Hearing Loss: current promises and future challenges

Aziz El Amraoui;

Room: M1
Chairs: TBA

E16.1 Realising the benefit to healthcare through population-wide application of polygenic risk scores

Gil McVean;
United Kingdom

E16.2 Polygenic risk score as a tool for predication of AF, SCD

Patricia Munroe;
United Kingdom

10:30 – 11:00 hrs | Coffee Break

11:00 – 12:30 hrs | Concurrent Sessions C24-C29 from submitted abstracts

Room: Hall 5
Chairs: tba

C24.1 Clinical, genetic and molecular delineation of KPTN-related disorder in humans and mice identifies mTOR inhibition as a candidate therapeutic approach
Lettie Rawlins, United Kingdom

C24.2 PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 42,411 pediatric individuals with NeuroDevelopmental Disorders
Alexander Dingemans, Netherlands

C24.3 Biallelic variants in ITFG2, a subunit of the KICSTOR complex, affect mTOR signaling pathway and lead to a syndromic neurodevelopmental disorder
Elisa Cali, United Kingdom

C24.4 Biallelic variants in BRF2 are associated with craniofacial anomalies and cognitive impairment
Sissy Bassani, Switzerland

C24.5 Utility of DNA methylation episignatures in neurodevelopmental disorders: from variant classification to new diagnoses and novel episignature discovery
Slavica Trajkova, Italy

C24.6 Epileptogenic mosaic brain malformations: a single-cell and spatial transcriptomic landscape
Sara Baldassari, France

Room: Clyde Auditorium
Chairs: tba

C25.1 Increasing the diagnostic yield in the 100,000 Genomes Project through Diagnostic Discovery
Susan Walker, United Kingdom

C25.2 Systematic Pan-European reanalysis of 6,004 genetically undiagnosed rare disease families yields 506 new diagnoses
Wouter Steyaert, Netherlands

C25.3 MANE Select in 2023: expanding the joint NCBI and EMBL-EBI transcript set
Adam Frankish, United Kingdom

C25.4 Guideline for interpretation of proteomics data as functional evidence (PS3) in the context of the ACMG/AMP sequence variant interpretation framework
Fatemeh Peymani, Germany

C25.5 SEALigHTS: An innovative, high throughput targeted technique to study messenger RNAs and circular RNAs.
Corentin Levacher, France

C25.6 Diagnostic analysis of RNA splicing reclassifies 50% of candidate pathogenic splicing variants
Mark Drost, Netherlands

Room: Hall 2
Chairs: tba

C26.1 Deciphering the genetic architecture of retinal vascular traits and their potential to predict cardiovascular disease risk
Sven Bergmann, Switzerland

C26.2 Genetic analysis in 1.9 million individuals reveals new insights into genetic variation underlying heart failure susceptibility
Albert Henry, United Kingdom

C26.3 Copy-number variants as modulators of common disease susceptibility
Chiara Auwerx, Switzerland

C26.4 Whole genome burden testing in 333,100 individuals identifies novel rare non-coding associations with height
Gareth Hawkes, United Kingdom

C26.5 Genetics of endocrine-related brain anatomy using biomedical image derived phenotypes
Hannah Currant, Denmark

C26.6 Large-scale blood mitochondrial genome wide associations study provides novel insights into mitochondrial disease related traits
Michael Weedon, United Kingdom

Room: Lomond Auditorium
Chairs: tba

C27.1 TET1 and TDG suppress inflammatory response in intestinal tumorigenesis: implications for colorectal tumors with the CpG Island Methylator Phenotype
Rossella Tricarico, Italy

C27.2 Merging patient-derived iPSCs and organ-on-a-chip technology to disclose the genesis of Hereditary Diffuse Gastric Cancer
Daniel A. Ferreira, Portugal

C27.3 Mutation rate variability at the sub-gene scale due to distinct DNA methylation gradients.
David Mas-Ponte, Spain

C27.4 PBRM1 and KDM5C loss modulate the tumor immune microenvironment of clear cell renal carcinoma
Carlos Valdivia, Spain

C27.5 Reactivation of human fetal microRNAs in liver cancer
Nikita Telkar, Canada

C27.6 CTNNA1 germline variants with a premature termination codon are a risk factor for development of early-onset Diffuse Gastric Cancer
Silvana Lobo, Portugal

Room: M1
Chairs: tba

C28.1 Optimising dynamic consent platforms: learnings from evaluation of ‘CTRL’ in a cardiovascular genetic disorders cohort
Matilda Haas, Australia

C28.2 Long-term clinical follow-up for DECIDE: a patient decision-aid for genomic sequencing
Shelin Adam, Canada

C28.3 Development and Implementation of Novel Chatbot-based Genomic Research Consent
Eric Vilain, United States

C28.4 Digitalising genetic cascade screening in cardiogenetics: introducing a new digital family clinic
Marlies van Lingen, Netherlands

C28.5 The use of AI in variant interpretation in newborn screening: Professionals’ perspectives
Mirjam Plantinga, Netherlands

C28.6 Data counselling: providing support for decision-making about genomic and health data sharing for research
Claudia deFreitas, Portugal

Room: Forth Room
Chairs: tba

C29.1 Provision of a diagnostic service for mosaic skin disorders; experience from the first 500 cases including novel variants and mutational hot-spots
Thomas Cullup, United Kingdom

C29.2 ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Laura Watts, United Kingdom

C29.3 Skeletal phenotype of a novel Smad4 mouse model for Myhre syndrome
Alice Costantini, France

C29.4 Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects
Adam Jackson, United Kingdom

C29.5 Disease-specific biomarkers of pathogenic HRAS variants in skin
Theresa Nauth, Germany

C29.6 Biallelic truncating variants in VGLL2 cause syngnathia in humans
Jeanne Amiel, France

12:30 – 13:30 hrs | Lunch Break

13:30 – 14:15 hrs | Plenary Sessions PL4

Room: Hall 3
Chairs: Valérie Cormier Daire and Alexandre Reymond

PL4.1 Mendel Lecture – DNA: what is it trying to tell us?

Shankar Balasubramanian;
United Kingdom

14:15 – 15:45 hrs | Plenary Sessions PL5-PL7

Room: Hall 3
Chairs: Valérie Cormier Daire and Alexandre Reymond

PL5.1 ESHG Education Award

Han Brunner;

Room: Hall 3
Chairs: Valérie Cormier Daire and Alexandre Reymond

PL6.1 ELPAG Award

Tara Clancy;
United Kingdom

Room: Hall 3

EJHG-SN Citation Awards

ESHG Early Career Awards

European DNA Day Contest

Closing Address

*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