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


08:30 – 10:00 hrs | Concurrent Symposia S02-06 & Educational Session E06&07

Room: Hall 5
Chairs: Christian Gilissen

S02.1 Reduced reproductive success is associated with selective constraint on human genes

Eugene Gardner;
United Kingdom

S02.2 The female protective effect against autism spectrum disorder

Stephan Sanders;
United Kingdom

S02.3 Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Tychele Turner;
United States

Room: Hall 2
Chairs: Andrea Ganna

S03.1 Applications of genetics in reproductive behaviour and related phenotypes

Melinda Mills;
United Kingdom

S03.2 The genetics of educational attainment

Aysu Okbay;

S03.3 Social implications of Behavioral DNA testing and GWAS specifically

Paul Appelbaum;
United States

Room: Lomond Auditorium
Chairs: Tina-Marie Wessels

S04.1 Psycho-social and Genetic Counselling Issues in Prenatal Setting in Southeast Asia

Juliana MH Lee;
Hong Kong

S04.2 Exploring models of service delivery: the case of religious lay counselling practices in Ghana

Annabella Osei-Tutu;

S04.3 Genetic counselling in the Arab world: Challenges and implications

Khalsa Al Kharusi;

Room: M1
Chairs: Mridul Johari

S05.1 Beyond single-variant hypotheses: using machine learning to improve interpretation of causes of rare disease

Tony Capra;
United States

S05.2 Oligogenic mechanisms – Implications of the digenic TIA1/SQSTM1 disease

Bjarne Udd;

S05.3 A digenic muscle disease caused by TTN and SRPK3

Volker Straub;
United Kingdom

Room: Hall 1
Chairs: William Newman

S06.1 Treating Aicardi-Goutieres Syndrome

Yanick Crow;
United Kingdom

S06.2 Trisomy 21 – a treatable interferonopathy

Joaquin Espinosa;
United States

S06.3 Treatment of interferonopathies – insights to common diseases

Marie-Loiuse Fremond;

Room: Clyde Auditorium
Chairs: Lars Feuk

E06.1 Single cell perturbation screen

Malte Spielmann;

E06.2 Immune lineages

Muzlifah Haniffa;
Uinted Kingdom

Room: M1
Chairs: Cristina Rodriguez-Antona

E07.1 Genetic diversity in pharmacogenomics

Julie A. Johnson;
United States

E07.2 Preventing Adverse Drug Reactions in the European citizens: results from the PREPARE study

Henk Jan Guchelaar;

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 C08-C15 from submitted abstracts

Room: Hall 5
Chairs: tba

C08.1 Spatiotemporal transcriptome atlas of human embryos after gastrulation
Jiexue Pan, China

C08.2 The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss
Rick Essers, Netherlands

C08.3 SEMA6A revealed as novel gene controlling vascular permeability and puberty onset
Antonella Lettieri, Italy

C08.4 Dynamic transcriptomic changes in endometrial tissue and its association with endometriosis and related infertility
Fei Yang, Australia

C08.5 Genome sequencing reveals copy number variants in known and novel candidate genes for idiopathic non-obstructive azoospermia
Oguzhan Kalyon, United Kingdom

C08.6 A map of genetic and phenotypic associations across female reproductive phenotypes
Triin Laisk, Estonia

Room: Clyde Auditorium
Chairs: tba

C09.1 Cluster analysis identifies genes with distinct patterns of loss of function variants
Robin Beaumont, United Kingdom

C09.2 Assessing missense mutation effects at scale using CRISPR-Cas9 base editors
Uyen Linh Ho, Switzerland

C09.3 Shining light on the dark genome: accurate quantification of tandem repeats for translational and basic research
Egor Dolzhenko, United States

C09.4 Misexpression of inactive genes is associated with nearby rare structural variants
Thomas Vanderstichele, United Kingdom

C09.5 Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection
Aoxing Liu, Finland

C09.6 Advances in long-read sequencing and telomere-to-telomere assembly enable breakpoint discovery in ring chromosomes and rearrangements involving acrocentric p-arms
Yulia Mostovoy, United States

Room: Hall 2
Chairs: tba

C10.1 The annotation and function of the Parkinson’s and Gaucher disease linked gene GBA1 has been concealed by its protein coding pseudogene GBAP1y
Emil Gustavsson, United Kingdom

C10.2 Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain
Sara Bizzotto, France

C10.3 Variants leading to impaired N-terminal acetylation capacity: a new cause of autosomal recessive primary familial brain calcifications
Viorica Chelban, United Kingdom

C10.4 Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Lisa Pavinato, Italy

C10.5 Genetic prevalence and population diversity of repeat expansion disorders
Kristina Ibañez, United Kingdom

C10.6 Position effects in the 3D genome as the cause of demyelinating leukodystrophy
Jana Henck, Germany

Room: Lomond Auditorium
Chairs: tba

C11.1 Single-cell consortium for federated PBMC data pipeline for cell-type specific eQTL mapping and downstream analyses
Dan Kaptijn, Netherlands

C11.2 Causes and consequences of telomere shortening: A Mendelian randomisation study
Samuel Moix, Switzerland

C11.3 Genetic regulation of the human plasma proteome in children and adolescents
Lili Niu, Denmark

C11.4 Genome-wide association analysis of plasma lipidome identifies 495 genetic associations
Linda Ottensmann, Finland

C11.5 Spatial transcriptomics data identifies disease-relevant tissue structures from genetically implicated GWAS genes and drug targets
Linda Kvastad, Sweden

C11.6 Proteome-wide analysis in 124,000 individuals identifies novel putative drug targets for chronic kidney disease
Joao Fadista, United Kingdom

Room: M1
Chairs: tba

C12.1 Evaluation of the breast cancer mainstream genetic testing program at the Parkville Familial Cancer Centre, Australia: Patients and clinicians’ experiences and health service outcomes
Tiffany O’Brien, Australia

C12.2 The efficacy of genetic counselling for familial colorectal cancer: findings from a randomised controlled trial
Andrada Ciuca, Romania

C12.3 How well do cancer genetics clinicians report discussing psychosocial implications during cancer genetic counselling appointments? Results from the first 51 participant appointments in the PersOnalising gEneTIc Counselling (POETIC) trial, a hybrid effectiveness-implementation randomised clinical trial
Laura Forrest, Australia

C12.4 MyCanRisk: Development of a public-facing app for CanRisk through user-centred design
Stephanie Archer, United Kingdom

C12.5 Developing evidence for a polygenic breast cancer risk report: Consumers and clinicians’ perspectives
Rebecca Purvis, Australia

C12.6 UK consensus guidance on prenatal diagnosis and preimplantation genetic testing for germline cancer susceptibility gene variants (gCSGV) by the CCG and FGG for the BSGM
Charlotte Tomlinson, United Kingdom

Room: Forth Room
Chairs: tba

C13.1 Variants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects
Andrew Sinclair, Australia

C13.2 Characterising clinically relevant complex structural variants in craniosynostosis using long-range technologies
Yang Pei, United Kingdom

C13.3 Episignatures in practice: independent evaluation of the predictive abilities of ten published episignatures for the molecular diagnostics of neuro-developmental disorders
Charbonnier Camille, France

C13.4 ZFTRAF1 deficiency causes syndromic microcephaly in humans and gross defects in zebrafish
Maria Asif, Germany

C13.5 Truncating ASXL1 mutations in Bohring-Opitz Syndrome cause epigenetically driven upregulation of Wnt signaling
Isabella Lin, United States

C13.6 Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Manon Chretien, France

Room: Hall 1
Chairs: tba

C14.1 Role of LRP5 in hereditary retinal vasculopathies: Zebrafish disease model
Fulya Yaylacioglu Tuncay, Turkey

C14.2 Regulation of non-canonical expression of ABCA4 by an RPE-specific enhancer with implications in ABCA4-associated disease
Victor López Soriano, Belgium

C14.3 Pharmacological cAMP synthesis stimulation improves cilia formation in CEP290-deficient fibroblasts and retinal response to light in CEP290 transgenic mice.
France de Malglaive, France

C14.4 Impairment of light-induced stress response in the Retinitis Pigmentosa mouse model CerklKD/KO
Rocío García-Arroyo, Spain

C14.5 Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Marta del Pozo Valero, Belgium

C14.6 Rescue of complex splicing defects in ABCA4 employing antisense oligonucleotides
Zelia Corradi, Netherlands

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

12:15 – 13:15 hrs | Get2gether European Reference Networks

Room: tba

Hosts: Carla Olivera & Nicoline Hoogerbrugge

This Get2gether session 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. ERNs promote multidisciplinary discussions with experts in rare diseases, the construction of registries, common research projects and teaching activities.

This Get2gether is aimed at presenting and raising awareness about the presence and the usefulness of the European Reference Networks and at promoting networking and professional connections among those clinically and academically interested in rare diseases.
A general discussion with the audience will occur at the end of the presentations both in person and by asking poll-questions to the audience (both those who attend form home and those who are present).

Attendees will learn about:

  • Usefulness of the Clinical patient management system (CPMS)
  • Teaching Activities in the frame of ERNs
  • Registries and Research in the frame of ERNs


Get2gether session speakers will have 7 minutes each to present their talks, and 20 at the end of all presentations for open questions and discussion. There will be 2 blocks of Poll-Questions about the usefulness of ERNs activities for geneticists (clinicians, laboratory specialists and/or researchers).


Welcome – Carla Olivera & Nicoline Hoogerbrugge

Poll Questions I

Talk 1: Usefulness of the Clinical patient management system (CPMS) for ERN members and non-ERN members
Prof. Helene Dollfus, MD, PhD; CARGO and Department of medical genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg France. Coordinator of ERN EYE

Talk 2: Teaching in the frame of ERNs
Prof. Alain Verloes, MD, PhD. Department of Genetics, Hospital Robert Debre, Paris, France. Coordinator of ERN EPICARE

Talk 3: Registries and Research in the frame of ERNs
Dr. Holm Graessner, PhD, Centre for Rare Diseases, University Hospital Tübingen, Germany. Coordinator ERN RDN

Poll Questions II

Round Table: Q&A

Closing – Carla Olivera & Nicoline Hoogerbrugge

12:00 – 13:00 hrs | Corporate Satellites

More information

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

14:00 – 15:30 hrs | Workshops W05-W11

Room: Hall 5
Chairs: Marjolijn Ligtenberg, Valtteri Wirta, Clare Turnbull

The aim of this workshop is to educate and update clinical geneticists, molecular geneticists and genetic counsellors, so they are best placed to contribute a germline perspective to a tumour sequencing board.

We shall have specific talks on:

  • Technologies and workflows: where germline consideration fit in for the different molecular analyses and testing pathways applied for different tumour types
  • Nomenclature and Classification: pathogenicity, oncogenicity and actionability. Differences and overlaps between germline and somatic frameworks for variant interpretation and reporting
  • Germline-focused analysis of tumour-only sequence findings: which variants found on tumour-only sequencing do and don’t warrant ‘germline follow-up’.

We shall then have a panel debate with interactive audience voting and questions entitled “Tumour-only, tumour-first or paired sequencing: what is the best pathway for analysis of ovarian and prostate cancers” .


Room: Clyde Auditorium
Chairs: Danya Vears, Ainsley Newson, Celia Azevedo Soares

This workshop will explore the ethical issues and practical challenges relating to implementing genomics into newborn screening programs. It will explore questions relating to the technical possibilities and limitations of using genomics in a newborn screening setting and look at ethical tensions between using genomics in individual versus public health settings.

This workshop will comprise three brief presentations and then engage panel members and the audience in discussion. The session will allow questions from participant and involve polling.

Room: Hall 2
Chairs: Sofia Douzgou Houge, Peter Krawitz, Arjan Bouman

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 2023 ESHG conference in Glasgow.

This year, we also offer the opportunity to request a pre-analysis, of consented, illustrative, facial photos of the affected individual through the use of GestaltMatcher AI. This is an academic open-source project and medical images will be available in the GestaltMatcher database which is compliant with GDPR and the FAIR principles (link to

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 details about genetic testing investigations should be provided.

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.


For those who wish to bring their cases on the day (as in previous years):

  • please bring your presentation on a memory stick to the lecture theatre in the thirty minutes before the sessions begins, to book your place for presentation.

For those who wish to submit their case in advance to GestaltMatcher (before 10th of May 2023):

  • if you already have an account in GMDB, assign each case that you would like to discuss in the Dysmorphology Workshop to the eponymous group.
  • if you don’t have an GMDB account yet, please request access by email to:
  • AND bring your presentation on a memory stick to the lecture theatre in the thirty minutes before the sessions begins, to book your place for presentation.

For those who wish to submit cohorts of affected individuals with dysmorphic features for research purposes/in view of a future publication:

  • It is necessary that medical imaging data of you cohort is uploaded to GestaltMatcher database (GMDB) before the meeting. GMDB serves as a repository for the preprint server and you can refer to your data as soon as your preprint is ready for review.
  • AND bring your presentation on a memory stick to the lecture theatre in the thirty minutes before the sessions begins, to book your place for presentation. The cohort will be presented for discussion if there is time left from the diagnostic queries
  • AND, papers using conclusions/discussion data should include the following acknowledgement: This study makes use of data about morphology of the affected individuals generated within the ESHG 2023 dysmorphology workshops.

To guarantee a smooth process, please get confirmation by email or via the chat app on GMDB that your case or cohort is booked for the Dysmorphology Workshop.

Important: given the hybrid format of the conference, it is important that permission has been sought by the responsible clinician from affected individuals/parents/carers for on-line sharing/presenting. GMDB is a FAIR database provided by a non-profit entity (AGD) that is GDPR and HIPAA-compliant and can therefore be used as a submission portal.

We look forward to seeing you in Glasgow!

Room: Lomond Auditorium

More information will be available in March/April 2023.

Room: M1
Chairs: Erica Gerkes, Nicole de Leeuw

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 as well as complex rearrangements, 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, but also the detection of CNVs and other SVs using sequence-based methods. 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, 2023. 

Room: Forth Room
Chairs: Heidi Rehm, Gunnar Houge

In 2015, the American College of Medical Genetics and Genomics (ACMG), in collaboration with the Association for Molecular Pathology (AMP) published detailed standards for evaluating evidence and classifying the pathogenicity of variants in Mendelian disease genes. In 2021, ACMG convened a new committee joint with AMP, the College of American Pathologists (CAP), and the Clinical Genome Resource (ClinGen), to publish updated standards for variant classification. This workshop will present an advanced view of the new draft ACMG/AMP/CAP/ClinGen variant classification standards (SVC v4.0) and allow attendees to work through example variants to gain early exposure to the new standards. In addition, a framework developed in 2019 by an ESHG task force, called the ABC-system, which can be an add-on or alternative to the 2015 ACMG/AMP standards, will also be presented with example variants to allow attendees to try this framework.

Room: Hall 1
Chairs: Aleena Mushtaq, Adam Frankish, Julia Foreman

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.

By the end of the workshop you 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.
  • Understand some of the key features of DECIPHER available to enable variant interpretation

The 90 minute session will include a presentation on the Ensembl/GENCODE and MANE annotation processes and variation data resources (such as DECIPHER). This will be followed by a live demonstration of the Ensembl genome browser and Variant Effect Predictor (VEP).

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 B

17:00 – 18:30 hrs | Concurrent Symposia S07-S10 & Educational Sessions E08-E10

Room: Hall 5
Chairs: Serena Nik-Zainal

S07.1 Clonal relationships in DCIS and recurrent invasive breast cancer

Tapsi Kumar;
United States

S07.2 Barrett’s

Sarah Killcoyne;
United Kingdom

S07.3 Cervical cancer

Peter Sasieni;
United Kingdom

Room: Hall 2
Chairs: Karoline Kuchenbaecker and Juliana Miranda Cerqueira

S08.1 Using haplotype information to empower GWAS

Po-Ru Loh;
United States

S08.2 Investigation of cohort effects on polygenic scores from large hospital biobanks in the US

Lea Davis;
United States

S08.3 Joining forces across disciplines: accelerating the progress of GWAS variant-to-function in the microbiome

Alexandra Zhernakova;

Room: Lomond Auditorium
Chairs: Mahsa Shabani

S09.1 The governance concerns related to developing diverse genomic databases

Robert Cook-Deegan;
United States

S09.2 Experiences from Managing Access to Genomic Databases

Deborah Mascalzoni;

S09.3 The emerging regulatory framework in the EU and it’s impact on data sharing in genetics

Veronique Cimina;

Room: M1
Chairs: Alexander Hoischen

S10.1 Somatic mutations – emerging cause in autoinflammatory diseases

David Beck;
United States

S10.2 Somatic mutations in ‘benign’ blood diseases

Satu Mustjoki;

S10.3 Somatic mutations in primary immunodeficiencies: friends or foes?

Roger Colobran;

Room: Clyde Auditorium
Chairs: TBA

E08.1 Do we need to adopt a cautious approach to returning results from genomic research?

Heidi Howard;

E08.2 A cutting edge approach to returning genomic results

Mary-Anne Young;

Room: Forth Room
Chairs: Daniela Pilz

E09.1 Classification, genetics and treatment of epilepsy

Sameer Zuberi;
United Kingdom

E09.2 A self-regulating gene therapy for Rett syndrome

Stuart Cobb;
United Kingdom

Room: Hall 1
Chairs: Mridul Johari

E10.1 Gene therapy in SMA

Laurent Servais;
United Kingdom

E10.2 AAV therapy for SMA

Francesco Muntoni;
United Kingdom

18:30- 20:00 hrs | Corporate Satellites

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*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