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;
France
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
12:00 – 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-Ruh 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 asterix 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