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

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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

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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

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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

More information

*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