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 3
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 Social implications of Behavioral DNA testing and GWAS specifically
Paul Appelbaum;
United States
S03.2 Applications of genetics in reproductive behaviour and related phenotypes
Melinda Mills;
United Kingdom
S03.3 The genetics of educational attainment
Aysu Okbay;
Netherlands
Room: Hall 5
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 TIA1 variant driving multisystem proteinopathy with SQSTM1 mutations
Bjarne Udd;
Finland
S05.2 A digenic muscle disease caused by TTN and SRPK3
Volker Straub;
United Kingdom
S05.3 Beyond single-variant hypotheses: using machine learning to improve interpretation of causes of rare disease
Tony Kapra;
United States
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
Room: Clyde Auditorium
Chairs: Lars Feuk
E06.1 Single cell perturbation screen
Malte Spielmann;
Germany
E06.2 Immune lineages
Muzlifah Haniffa;
Uinted Kingdom
Room: Lomond Auditorium
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;
Netherlands
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 | How to get published in the European Journal of Human Genetics
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
Format:
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).
Programme:
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
13:00 – 14:00 hrs | Poster Viewing with Authors – Group A
14:00 – 15:30 hrs | Workshops W05-W11
Room: Hall 3
More information will be available at the beginning of 2023.
Room: Clyde Auditorium
More information will be available at the beginning of 2023.
Room: Hall 2
More information will be available at the beginning of 2023.
Room: Hall 5
More information will be available at the beginning of 2023.
Room: Lomond Auditorium
More information will be available at the beginning of 2023.
Room: M1
More information will be available at the beginning of 2023.
Room: Hall 1
More information will be available at the beginning of 2023.
14:15- 15:45 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 3
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 Recessiveness among Mendelian disease variants in UK Biobank
Lea Davis;
United States
S08.3 Joining forces across disciplines: accelerating the progress of GWAS variant-to-function in the microbiome
Alexandra Zherkanova;
Netherlands
Room: Hall 5
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: Lomond Auditorium
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 Primary and secondary mosaicism in immune diseases
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: M1
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;
France
E10.2 AAV therapy for SMA
Francesco Muntoni;
United Kingdom
19:00- 20:30 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