ANNUAL SYMPOSIUM 2019 19 & 20 September VELDHOVEN Dutch Society for Human Genetics (www.nvhg-nav.nl) The NVHG encompasses two professional associations: the Dutch Association of Clinical Geneticists (Vereniging Klinische Genetica Nederland, VKGN), which unites medical specialists in clinical genetics, the Association of Clinical Genetic Diagnostic Laboratories (Vereniging Klinisch Genetische Laboratoriumdiagnostiek, VKGL) and the NACGG (Nederlandse Associatie voor Community Genetics en Public Health Genomics) which unites recognised clinical genetics laboratory specialists. Belgian Society for Human Genetics (www.beshg.be) The BeSHG represents the community of Belgian geneticists towards the other national and international Societies of Genetics, and provides a discussion forum on scientific, professional, social and ethical issues linked to the practice of human genetics. 1 Message from Dr. Mieke van Haelst, president NVHG and Prof. Dr. Gert Matthijs, president BeSHG Dear colleagues, Welcome to the second joint meeting of the Belgian and Dutch Society for Human Genetics. It is a pleasure to welcome you in Veldhoven! Both societies are characterized by a genuine interest in research in human genetics in combination with a strong clinical and societal commitment. Implementation of the scientific results to improve human health is an everyday goal for the majority of genetic researchers present at this meeting. Many of us have combine research and clinical activities and obligations, and our PhD students and post-docs are often implicated in research that stems from clinical observations or deals with patients’ material. Human genetics is a broad field, with a myriad of research opportunities and clinical applications. Our professional societies play a role in promoting scientific research in genetics and genomics, in its broadest sense. A lot is going on, and clearly, by your attendance, you witness that you wish to be part of these great times for human genetics. We are pleased to offer you a star-studded line-up of plenary speakers covering exiting developments in our field. John van der Oost will teach us about CRISPR-Cas, and guide us through a plethora of applications that have changed the world of genetic research and are finding their way to clinical application. Douglas Easton is a global leader in breast cancer genetics research and will focus on the use of polygenic risk score (PRS) in daily clinical practice. Michel Georges is a well-known leader in the field of animal genetics, but his work also reaches into the realms of human genetics, where he made important contributions to better understand GWAS loci 2 in Inflammatory Bowel Disease. Monogenic diseases – or what we believe are monogenic diseases- are discussed by Elfride De Baere who studies inherited retinal diseases and will show how integrated omics lead to better diagnosis and therapeutic applications for specific types of blindness. Joris Veltman, whom we know from pioneering novel genomic technologies, will focus on clinical outcomes that provide more insight into the success of assisted reproductive technologies, as well as the health of future offspring. Malte Spielmann studies genetics from yet another angle: structural variation in 3D. In his lecture, he will show us how the field is revolutionized with the study of genomes at the single cell level. Lisanne Vervoort is our youngest invited speaker. She will bring a wonderful story about the optical mapping of structural variation. Finally, we are very happy to have Peter de Knijff to entertain us about what he has learned during his 25 year journey in forensic genetic research. The program also focusses on the challenges we all face. In the interactive panel-discussion on ‘Hurdles for genetic research – what can we do about it?’ we will collectively explore specific issues that either affect or impede genetic research and clinical services, including diagnostics. We are all familiar with GDPR (in Dutch: AVG), ethical review procedures, and FAIR data, but really how does it affect our work? We look forward to interacting with the audience and learn also from your experiences. Finally, we are proud to announce that Danielle Posthuma has been awarded the Lodewijk Sandkuijl price for her ground-breaking work in Complex Genetics and she will enlighten us about her work in her lecture “From GWAS to Function”. We sincerely thank all the participants for their contribution. From the abstracts, the Scientific Committee has been able to select high quality presentations. Unfortunately we have not been able to offer all abstract submitters a slot in the program, so please also visit the posters. We also thank the sponsors, not only for their essential and generous financial contribution for the organization of the meeting, but also because they join us to present their latest innovations. This interaction between users and providers is very valuable, for all, but mostly for young people and trainees in the labs. Importantly, we wish to sincerely thank all the members that actively engage, in the organization and function of our Societies. We are happy we can count on you to make our societies thrive! We hope that this year’s meeting will bring you many new ideas and inspiring new collaborations. Mieke van Haelst, president NVHG Gert Matthijs, president BeSHG 3 General information Venue Hotel NH Eindhoven Conference Centre Koningshof Locht 117, 5504 RM Veldhoven Eindhoven - Nederland Tel.: +31 40 253 7475 www.nh-hotels.nl/hotel/nh-eindhoven-conference-centre-koningshof [email protected] Registration Holland Foyer: open on Thursday September 19, 2019 09:30 - 10:30hrs Reception and catering Holland foyer Networking event Brabantzaal Abstracts Abstracts guest speakers G 01 to G 08 Abstracts talks: T 01 to T 16 Abstracts posters : P 01 to P 39 Abstracts T 01 - T 16 and P 01 - P 31 are available as download through the NVHG website For abstracts of the NACGG, VKGN and VKGL sessions we refer to these societies and the NVHG website Posters Poster boards have a size of 200 cm (height) and 100 cm (width) Please put up your poster immediately after arrival. Do not forget to remove it at the end of the meeting Language The official language of the annual meeting will be English Accreditation Accreditation forms are available at the registration desk (GAIA ID number: 370535) Photos Photographs will be taken during the meeting which can be used by the NVHG for PR purposes. Anybody objecting should list their name on the form available at the NVHG registration desk. Badges You are requested to hand in your badge at the end of the symposium Presentations You are requested to timely hand in an USB stick with your presentation to the chairperson of your symposium session 4 Organization Scientific organization NVHG board Dr. Mieke van Haelst (President) Prof. dr. Johan den Dunnen (Secretary) Dr. ir. Aimée Paulussen (Treasurer) Dr. Terry Vrijenhoek Dr. Lidewij Henneman Dr. Roland Kuiper Prof. dr. Richard Sinke Prof. dr. André Uitterlinden Dr. Lisenka Vissers Dr. Gijs Santen BeSHG board Prof. dr. Gert Matthijs (President) Prof. Dr. Nisha Limaye (Secretary) Dr. Lut Van Laer (Treasurer) Dr. Saskia Bulk Prof. Dr. Bert Callewaert Prof. Dr. Kathelijn Keymolen Dr. Damien Lederer Dr. Julie Soblet Administrative organization Julia Lopez Hernandez ([email protected]) Henny Schurmann ([email protected]) www.nvhg-nav.n 5 Sponsors We are very grateful for the financial support from Simons Fund Foundation 6 We thank the following companies for their support: Golden Sponsors Agilent Technologies Moon www.agilent.com www.diploid.com/moon Illumina Takara Bio www.illumina.com www.takarabio.com Sophia Genetics SA PerkinElmer www.sophiagenetics.com www.perkinelmer.com/lifesciences 7 Silver Sponsors Sanofi Nimagen B.V. www.sanofigenzyme.nl www.nimagen.com Pacific Biosciences GE Healthcare www.pacb.com www3.gehealthcare.nl BIOKÉ B.V. BGI Global Genomic Services www.bioke.com www.bgi.com Twist Bioscience Sanbio www.twistbioscience.com www.sanbio.nl 8 Thermo Fisher Macrogen www.fishersci.nl dna.macrogen.com Westburg Hettich www.westburg.eu www.hettich.com Regular Sponsors Novogene Bionano Genomics en.novogene.com bionanogenomics.com Alnylan www.alnylam.com 9 Program Time Thursday 19th September 09:30 - 10:30 Registration Room: Holland Foyer 10:30 - 12:40 Opening & Plenary session 1 Room: Auditorium Chair: Mieke van Haelst (NVHG) / Saskia Bulk (BeSHG) 10:30 Opening by Dr. Mieke van Haelst president NVHG / Dr. Saskia Bulk board member BeSHG 10:35 Prof. Dr. John van der Oost (Wageningen, NL) CRISPR-Cas – from biology to applications 11:15 DNA Day Contest Award 11:20 Prof. Dr. Douglas Easton (Cambridge, UK) Predicting Breast Cancer Risk using Rare and Common Variants 12:00 Lodewijk Sandkuijl Lecture: Danielle Posthuma (Amsterdam, NL) From GWAS to Function 12:40 - 14:00 Lunch, room: Holland Foyer 13:00 Business/private meetings VKGN Room: Parkzaal 13:00 Business/private meetings VKGL Room: Auditorium 14:00 - 16:00 Plenary session 2 Room: Auditorium Chair: Terry Vrijenhoek (NVHG) / Bert Callewaert (BeSHG) Hurdles for genetic research - what can we do about them? Panel session to explore how genetic research could be further facilitated 14:00 Introduction session 14:15 Panel presentation and hurdle identification 15:00 Power Break 15:15 Plenary discussion - how to overcome the hurdles 15:45 Conclusion in images 10 16:00 - 17:30 Posters presentation with coffee & tea Room: 65 / Holland Foyer 17:30 - 18:30 Plenary session 3 Room: Auditorium Chair: Johan den Dunnen (NVHG) 17:30 Prof. Dr. Peter de Knijff (Leiden, NL) A result is only a result if it results in a result 18:30 - 21:00 Social Evening Program Room: Brabantzaal 18:30 Pre-dinner drinks 19:00 Dinner 21:00 Networking event Time Friday 20th September 08:30 - 09:30 Registration Room: Holland Foyer 08:45 - 10:05 Plenary session 4 Room: Auditorium Chair: André Uitterlinden (NVHG) / Saskia Bulk (BeSHG) 8:45 Prof.