Sunday

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

 

08:30 – 10:00 hrs | Educational Session E01 & E02 & Concurrent Symposia S01

Room: Clyde Auditorium

E01.1 The $100 Genome

Doron Lipson;
Israel

E01.2 Sequencing by Binding (SBB): increase accuracy of short-read genomes

Jonas Korlach;
United States

E01.3 The next next generation of sequencing

Michael Previte;
United States

Room: Lomond Auditorium

E02.1 CRISPR technologies for precise epigenome editing

Angelo Lombardo;
Italy

E02.2 SINEUP: A New Modular Tool to Increase Protein Translation

Marta Biagioli;
Italy

Room: Hall 2

S01.1 Development of novel therapies for inherited metabolic diseases based on a multi-omics approach

Sean Froese;
Switzerland

S01.2 Aberrant post-translational modification in organic acidemias

Charles Venditti;
United States

S01.3 Cell and tissue-specific roles of urea cycle enzymes in cancer

Ayelet Erez;
Israel

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

10:00 – 11:30 hrs | Corporate Satellites

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10:30 – 12:00 hrs | Educational Sessions E03-E05 & Workshop W01-W04

Hall 3

E03.1 Inherited blood cancers – The power of consortia

Hamish S Scott;
Australia

E03.2 Blood Cancer Susceptibility genes, new kids on the block

Ana de Rio Machin;
United Kingdom

Room: Lomond Auditorium
Chair: Zoltan Kutalik

E04.1 Pleiotropic associations: methods and insights

Luke O’Connor;
United States

E04.2 The atlas of global and local pleiotropy

Inga Prokopenko;
United Kingdom

Room: M1
Chair: Kelly Ormond

E05.1 Laws in the EU: How do they apply to gene editing?

Vera Lúcia Raposo;
Portugal

E05.2 Ethics of human somatic gene editing

Nchangwi Munung;
South Africa

Room: Clyde Auditorium
Chairs: Christian Gilissen, Gijs Santen

The goal of the workshop is to provide an introduction into WES/WGS for people without much experience yet. Participants will learn to understand the basics of laboratory, bioinformatics and interpretation processes for exome sequencing as well as get to know common mistakes made in these processes. During the workshop participants will engage with the speakers through interactive presentations and discussions of case studies.

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 https://www.go-fair.org/fair-principles/).

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.

Instructions:

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: info@gestaltmatcher.org
  • 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 https://www.medRxiv.org 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
Chairs: Silvia Kalantari, Ana Raquel Gouveia Freitas da Silva

The workshop will be focused on pregnancy interruption in cases of fetal malformation/severe fetal genetic condition and how the legislation on this works in different European countries. The main learning outcome will be an increased awareness of regulations, especially within the European Union, and practical guidelines for behaviour in different clinical contexts related to severe fetal disorders and pregnancy interruption possibilities.

Programme:

Part I (30 minutes): Introduction of the various legislations focused on medical termination (so termination in case of severe fetal conditions) of pregnancy in Europe. The overview will also include whether it is legal to give information about pregnancy interruption in another country, when regulations do not allow it in one’s own country. A short overview of fetal malformations and the gestational week in which they can be identified through prenatal US.

Part II (50 minutes): After the theoretical introduction some practical cases about situations of genetic disease in the fetus and/or in the family are going to be discussed.

Part III (10 minutes): Summary of topics covered in part I and points emerged during the discussion in part II, conclusions.

Room: Hall 1
Chair: Alisdair McNeill

This workshop will help you develop strategies for publishing your genomics research in peer reviewed journals. Specific learning objectives are:

  1. Develop an awareness of open access genomics datasets which can be used to enhance papers.
  2. Learn how to produce publication quality images/figures.
  3. Learn how to use social media to promote your research.
  4. Develop an awareness of how design thinking can be used to develop ideas and papers.

There will be a Q&A session at the end of the workshop so attendees can discuss their ideas and concepts for a research paper and receive feedback.

 

12:15 – 13:15 hrs | ESHG Podcast “Genetic Sounds” – What is the next ethical frontier in genetics? | Lomond Auditorium

Click here to listen to previous episodes

Invited participants: Professors Tara Clancy, Mahsa Shabani and Gemma Chrandratillake

Delivered by The Whitworth Group and Sofia Douzgou Houge

12:15 – 13:45 hrs | Get2gether EBMG/UEMS-SMG

Room: M1

Medical and professional training across Europe has been developing significantly in recent years, and is affected by the work done in the various European Organisations active in the area. You will learn how the EBMG (European Board of Medical Genetics), the UEMS (European Union of Medical Specialists) Section of Medical Genetics, and the ESHG, relate and connect to each other. How do these bodies raise standards of training, qualification, and practice in Medical Genetics for the benefit of patients and families? You can meet some of the colleagues active in these fora and learn more about how you may benefit from these organisations and how you can contribute. There will be time for your questions regarding the training in all professional branches in Medical Genetics, the European registration as Genetic Counsellor and Clinical Laboratory Geneticist, and the examination for the European Certificate in Medical Genetics and Genomics for medical doctors.

With the co-operation of:
Jonathan Berg, Chair of Examination Group of UEMS-SMG
Christophe Cordier, Secretary General EBMG
Birgitte Diness, President EBMG
Thomas Liehr, Chair Branch of Clinical Laboratory Geneticists EBMG
Ute Moog, President UEMS-SMG, Chair Branch of Medical Geneticists EBMG
Milena Paneque, former President EBMG
Clara Serra Juhé, Chair Branch Genetic Counsellors & Genetic Nurses EBMG

12:00 – 13:45 hrs | Lunch Break, Exhibition, Poster Viewing

12:00 – 13:30 hrs | Corporate Satellites

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13:45 – 16:00 hrs | Plenary Session PL0-PL2

Room: Hall 5
Chairs: Borut Peterlin and Alexandre Reymond

ESHG President

Borut Peterlin;
Slovenia

ESHG Scientific Programme Committee Chair

Alexandre Reymond;
Switzerland

President of the United Kingdom Society for Human Genetics

Gemma Chandratillake;
United Kingdom

Room: Hall 5
Chairs: Borut Peterlin and Alexandre Reymond

PL1.1 ESHG Award Lecture

Magdalena Zernicka-Goetz;
United States

Room: Hall 5
Chairs: Borut Peterlin and Alexandre Reymond

PL2.1 Terrestrial and extraterrestrial genomics and multiomics

Christopher E. Mason;
United States

PL2.2 Height as a model trait in human complex trait genetics

Peter M. Visscher;
Australia

16:00 – 16:30 hrs | Fruit Break, Exhibition, Poster Viewing

16:30 – 18:00 hrs | Plenary Session PL3

Room: Hall 5
Chairs: Alexandre Reymond and Joris Veltman

The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2023 conference.

PL3.1 Analysis of RNAseq from 4,400 individuals in the 100,000 Genomes Project identifies new potential diagnoses
Jenny Lord, United Kingdom

PL3.2 Rapid, definitive treatment of phenylketonuria in variant-humanized mice with corrective editing
Dominique Brooks, United States

PL3.3 SMAD4-associated Myhre-syndrome mutations are under positive selection in the male germline
Katherine Wood, United Kingdom

PL3.4 Early evolutionary branching across spatial domains predisposes to clonal replacement under chemotherapy in neuroblastoma
Natalie Andersson, Sweden

PL3.5 Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
Yuval Yogev, Israel

PL3.6 Eye2Gene: a novel AI algorithm enables phenotype-driven gene prioritisation directly from retinal scans in inherited retinal diseases
Nikolas Pontikos, United Kingdom

18:00 – 18:30 hrs | Coffee Break, Exhibition, Poster Viewing

18:30 – 20:00 hrs | Concurrent Sessions C01-C07 from submitted abstracts

Room: Hall 5
Chairs: tba

C01.1 Biallelic variants in INTS11 are associated with a novel complex neurological disorder
Marcello Niceta, Italy

C01.2 Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Francesca Mattioli, Italy

C01.3 De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a novel neurodevelopmental syndrome associated with altered phosphoinositide signaling
Manuela Morleo, Italy

C01.4 CRISPR-engineered disruption of POGZ in neuronal lines alters synaptic pathways through indirect epigenetic effects
Mariana Moysés-Oliveira, United States

C01.5 DDe novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Julia Hentschel, Germany

C01.6 Biallelic loss of function variants in WBP4, encoding a spliceosome protein, identified in individuals with syndromic neurodevelopmental delay
Hagar Mor-Shaked, Israel

Room: Clyde Auditorium
Chairs: tba

C02.1 Discovery and targeted rescue of functional signatures associated with X-Linked dystonia-parkinsonism in postmortem brains and neuronal models
Rachita Yardav, United States

C02.2 Replantation of teeth in patients with papillon lefevre syndrome using a regenerative approach
Nermeen Ahmed, Egypt

C02.3 Challenges, insights and outcomes of a clinically integrated multi-omic rare disease program, RDNow, for individuals who remain undiagnosed after clinical genomic sequencing
Tiong Yang Tan, Australia

C02.4 Development of a Pharmacogenetic Service for the NHS: The PROGRESS Programme
John McDermott, United Kingdom

C02.5 Polygenic risk scores from multi-ancestry GWAS of >450 phenotypes in the Pan-UK Biobank Project offer insights into impacts of genetic architecture, ancestry, and statistical methodology on prediction
Kristin Tsuo, United States

C02.6 Early prevention for 9 common diseases via combined genomic and metabolomic prediction
Jeffrey Barrett, Finland

Room: Hall 2
Chairs: tba

C03.1 The recurrent p.Ser470Phe gain-of-function variant in DCAF15 leads to Cornelia de Lange syndrome by targeting SMC3 for aberrant ubiquitination
Sahar Da’as, Quatar

C03.2 A novel gene for autosomal dominant primary lymphoedema (PL)
Ege Sackey, United Kingdom

C03.3 Large-scale data-driven analysis to understand the contribution of rare variants to congenital heart disease
Enrique Audain Martinez, Germany

C03.4 Expanding genotype-phenotype associations in biglycan-related Meester-Loeys syndrome
Anne Hebert, Belgium

C03.5 Rare heterozygous variants  in PTCH1 are associated with bladder exstrophy-epispadias complex
Glenda Beaman, United Kingdom

C03.6 TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum
Isabelle Perrault, France

Room: Lomond Auditorium
Chairs: tba

C04.1 Participant experiences of receiving looked for additional findings in the 100,000 Genomes Project: a mixed methods study
Melissa Hill, United Kingdom

C04.2 Exploring uncertainties regarding unsolicited findings in genetic testing
Vyne van der Schoot, Netherlands

C04.3 Multidisciplinary healthcare professionals’ views on a psychiatric genetic counselling service within the northwest of England
Hanna Quigley, United Kingdom

C04.4 The decision-making of at-risk marriages after pre-marital screening for beta-thalassemia and sickle cell disease in alqatif, saudi arabia
Sara Alkaff, Saudi Arabia

C04.5 Preferences of people with inherited genetic conditions and family members in Portugal toward informing at-risk relatives of genetic risk
Álvaro Mendes, Portugal

C04.6 Hope lost and found, a qualitative exploration of the role of hope in parents offered genome sequencing
Jana Gurasashvlli, United Kingdom

Room: M1
Chairs: tba

C05.1 DAAM2 mutations cause androgen insensitivity syndrome by interfering with transcriptional droplet formation at androgen receptors
Nadine Hornig, Germany

C05.2 Influence of primary kidney disease in Chronic Kidney Disease pregnancies: pregnancy outcomes in women with COL4A3-5 related disease (Alport Syndrome)
Margriet Gosselink, Netherlands

C05.3 Re-analysis of whole-exome sequencing data and optical genome mapping in genetically undiagnosed patients with congenital anomalies of the kidney and urinary tract (CAKUT)
Helge Martens, Germany

C05.4 Cell-type-specific and tissue-specific expression quantitative trait loci in Multiple Sclerosis
Benjamin Jacobs, United Kingdom

C05.5 Exome reanalysis in a cohort of patients with inborn errors of immunity
Emil Vorsteveld, Netherlands

C05.6 Single cell expression, surface proteins, and T and B cell receptor usage in a multi ancestry systemic lupus erythematosus cohort
Niek de Klein, United Kingdom

Room: Forth Room
Chairs: tba

C06.1 Loss of function variant in SMIM1 is associated with reduced energy expenditure and weight gain
Mattia Frontini, United Kingdom

C06.2 Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Robert Taylor, United Kingdom

C06.3 Mitochondrial DNA variant detection in over 4,000 rare disease families by the systematic analysis of exome, genome, and RNA sequencing data
Sarah L. Stenton, United States

C06.4 Biallelic variants in DAP3, encoding the mitochondrial ribosomal protein MRPS29, cause a Perrault syndrome spectrum phenotype
Thomas Smith, United Kingdom

C06.5 Non-coding variants in HK1 and hyperinsulinism: genotype-phenotype associations
Jasmin Hopkins, United Kingdom

C06.6 Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Gaurav Varshney, United Kingdom

Room: Hall 1
Chairs: tba

C07.1 Relating pathogenic loss-of function mutations in humans to their evolutionary fitness costs
Ipsite Agarwal, United Kingdom

C07.2 The DNA of 33 Ashkenazi Jews from 14th-century Erfurt, Germany
Shamam Waldman, Israel

C07.3 Widespread natural selection on metabolite levels in humans
Yanina Timasheva, Russian Federation

C07.4 Using 858,635 individuals’ haplotype-sharing between British and Danish populations to infer the North Sea migration history
Xiaolei Zhang, United Kingdom

C07.5 Use of personalized reference sets for polygenic risk scores negates need for arbitrary groupings
Ambra Sartori, United States

C07.6 Structural variation discovery across diverse global populations
Emma Pierce-Hoffman, United States

20:00 – 21:30 hrs | ESHG Networking Mixer

More information

Sunday

*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