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;
Netherlands
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;
Ghana
S04.3 Genetic counselling in the Arab world: Challenges and implications
Khalsa Al Kharusi;
Oman
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;
Finland
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;
France
08:30 – 10:00 hrs | Corporate Satellites
10:00 – 10:30 hrs | Coffee Break, Exhibition, Poster Viewing
10:30 – 12:00 hrs | Concurrent Sessions C08-C15 from submitted abstracts
12:00 – 13:00 hrs | Lunch Break, Exhibition, Poster Viewing
12:15 – 13:15 hrs | Get2gether European Reference Networks
12:00 – 13:00 hrs | Corporate Satellites
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 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
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 Nicole.deLeeuw@radboudumc.nl 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
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;
Netherlands
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;
Italy
S09.3 The emerging regulatory framework in the EU and it’s impact on data sharing in genetics
Veronique Cimina;
Belgium
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;
Finland
S10.3 Somatic mutations in primary immunodeficiencies: friends or foes?
Roger Colobran;
Spain
Room: Clyde Auditorium
Chairs: TBA
E08.1 Do we need to adopt a cautious approach to returning results from genomic research?
Heidi Howard;
Sweden
E08.2 A cutting edge approach to returning genomic results
Mary-Anne Young;
Australia
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
*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