THE EUROPEAN SOCIETY OF HUMAN GENETICS EUROPEAN HUMAN GENETICS CONFERENCE 2019 Svenska Mässan | Gothenburg – Sweden | June 15 – 18 www.eshg.org @eshgsociety PROGRAMME facebook.com/eshg.org #eshg2019 GENERAL FLOORPLAN Site Map Level 2 Site Map Level 2 G4 H2 Preview G2+G3 Centre K1 Hall H G4 H2 Preview Aisle G 2+G3 G Lounge K2+K3 Centre K1 Hall H Level 25 Level 29 F1+F2+F3 K2+K3 Aisle G G Lounge Upper House Imagine Level 23 Dining J Lounge Level 25 Level 29 F1+F2+F3 Upper House Heaven 23 Imagine Level 23 Dining J Lounge Lounge K Heaven 23 Aisle F Level 28 Lounge Level 3 View Horizon F4+F5 K Aisle F Level 28 Skyline Star Level 3 R38 View Horizon F4+F5 R37 1 R36 Skyline Star R31 R35 R34 R38 R37 1 F Lounge R33 R2 R17 R18 R36 R31 R35 R34 F Lounge R33 R2 R9 R11 R12 R13 R17 R18 Conference Reception Bryggan R21 R26 R3 R9 R7 R11 R12 R14R13 R22 ConferenceR25 R6 Reception R16 Bryggan R23 R24 R4 R5 R15 R21 R26 R3 R7 R14 R22 R25 R6 R16 R23 R24 R4 R5 R15 Level 1 Level 1 Hall E Hall D A1 Hall E Networking Mixer A3 Hall D A1 Networking Mixer A3 Coffee A4 & Café Special Lunch (Warm & Cold) Coffee A2 Coffee & A4 & Café Cold Regular Lunch Special Lunch (Warm & Cold) Coffee A2 Hall C Exhibition Hall & A5 Cold Regular Lunch Poster Area A5 Hall C Exhibition Hall e-Posters & Restaurant Live Stream Registration Coffee Poster Area Area & e-Posters Warm Regular Lunch & Restaurant Exhibition Live Stream Registration Coffee Service Desk Area & Warm Regular Lunch Exhibition Entrance 2 Service Desk Lounge ATM twentyfourseven Entrance11.3 2 Hotel Reception West Coast Lounge EntranceATM No. 5 twentyfourseven 11.3 Hotel Reception West Coast Elevator to Heaven 23 Hotel Entrance Entrance No. 5 Main Entrance No. 2 Elevator to Heaven 23 Hotel Entrance (Level 0) Main Entrance No. 2 (Level 0) Entrance 2 ESHG 2019 | Gothenburg, Sweden | www.eshg.org Entrance THE EUROPEAN SOCIETY OF HUMAN GENETICS EUROPEAN HUMAN GENETICS CONFERENCE 2019 Svenska Mässan | Gothenburg – Sweden | June 15 – 18 PROGRAMME ESHG 2019 | Gothenburg, Sweden | www.eshg.org 3 GENERAL TABLE OF CONTENTS General Floorplan 2 Welcoming Address 5 GENERAL Committees - Board - Organisation 6 Acknowledgements 7 Future European Human Genetics Conferences 7 CME Credits 7 Get the most out of the ESHG 2019 8 Session Type Descriptions 9 Programme at a Glance - Saturday 10 Programme at a Glance - Sunday 11 SATURDAY Programme at a Glance - Monday 12 Programme at a Glance - Tuesday 13 Poster Topics 14 Poster Topics - Technical Information 14 ESHG Scientific Programme Saturday, June 15 15 SUNDAY Sunday, June 16 21 Monday, June 17 29 Tuesday, June 18 37 Programme Information Sponsored Session, Saturday, June 15 44 Corporate Satellites, Saturday, June 15 - Monday, June 17 45 Business and Ancillary Meetings 54 MONDAY ESHG Award & Mendel Lectures 55 ESHG Award Lecturer Interview 56 Mendel Lecturer Interview 57 Young Investigator Award Candidates 58 Poster Award Finalists 62 Information General Information 64 TUESDAY Registration Fees 68 Networking Events 69 Exhibition Plan 70 List of Exhibitors 71 Exhibition Information (see the Exhibition Catalogue for more information) 72 SATELLITES AWARDS INFORMATION 4 ESHG 2019 | Gothenburg, Sweden | www.eshg.org GENERAL WELCOMING ADDRESS GENERAL Dear Colleagues and Friends, On behalf of the board of the European Society of Human Genetics, it is my privilege to invite you to the annual European Human Genetics Conference, which in 2019 will take place in the beautiful city of Gothenburg, Sweden, from the 15th to the 18th of June As a Norwegian I am especially pleased to welcome you to a meeting in Scandinavia that will let you experience the famous Scandinavian mid-summer If you have time I recommend to SATURDAY stay a few extra days to experience the magnificent Swedish west coast The purpose of our annual meetings is threefold: to give you excellent science, to teach you human genetics, and to provide an optimal environment for making new contacts and finding new friends Our Scientific Programme Committee (SPC) has worked hard to invite the best speakers from various sectors of human genetics, and to select the best abstracts for platform presentations The scientific content is thus a nice and balanced mixture of invited talks (the concurrent symposia) and selected abstract presentations (the concurrent sessions) Throughout the meeting we also provide educational talks for those of you that are not that scientific, or that need to get updated or get an overview on various topics (that Gunnar Houge, President SUNDAY probably means all of you) These educational talks are also given by invited speakers, all European Society of Human Genetics with expert general knowledge of their subject A unique and usually fondly memorable event of our conferences is the Monday evening party This is not only arranged for the young but also for those that want to feel young – and those that just want to meet and talk to friends in a relaxed atmosphere As a bonus you get good food and excellent music – for an affordable and subsidized price As you hopefully have noticed, ESHG is everything you need in human genetics, whatever MONDAY your professional background is Our exhibitors also enjoy this plurality, showcasting their range of products for both clinical and laboratory work We hope to see as many of you as possible in Gothenburg, and hope you will return back home with the feeling that the ESHG meeting is a major meeting in human genetics that you really do not want to miss Gunnar Houge President European Society of Human Genetics TUESDAY Swedish Society of Medical Genetics and Genomics Dear Colleagues and Friends, On behalf of the board of the Swedish Society of Medical Genetics and Genomics, it is my SATELLITES privilege to welcome you to the annual European Human Genetics Conference 2019 in the city of Gothenburg, Sweden I am pleased to invite you to this event in Scandinavia and grateful for the work by ESHG and the programme committee that has resulted in a very interesting program with a balanced mix of educational talks and the latest in human genetics, both basic and applied Thus, we are looking forward to a highly inspirational meeting Gothenburg is the largest non-capital in the Nordics and located on the beautiful west coast of Sweden and I hope that you also have a chance to explore it in conjunction with the AWARDS meeting and, if the weather permit, to enjoy the bright summer evenings However, one must go much further north in Sweden to experience midnight sun Finally, the meeting is an opportunity to meet old friends, new colleagues and making new collaborations Magnus Burstedt President of the Swedish Society of Medical Genetics and Genomics INFORMATION WELCOME ESHG 2019 | Gothenburg, Sweden | www.eshg.org 5 GENERAL COMMITTEES - BOARD - ORGANISATION European Society of Human Genetics Executive Board 2018-2019 Scientific Programme Committee President Chair Gunnar Houge, NO Joris Veltman, UK President-Elect Members GENERAL Alexandre Reymond, CH Yasemin Alanay, TR Ramona Moldovan, RO Vice-President Valerie Cormier-Daire, FR Carla Oliveira, PT Christine Patch, UK Jose Luis Costa, PT Matti Pirinen, FI Elfride de Baere, BE Lucy Raymond, UK Secretary-General Vita Dolzan, SI Alexandre Reymond, CH Karin Writzl, SI Edward Dove, UK Sam Riedijk, NL Deputy Secretary-General Francesca Forzano, UK Sini Skarp, FI Carla Oliveira, PT Brunella Franco, IT Maria Jesus Sobrido, ES SATURDAY Treasurer Lude Franke, NL Maria Soller, SE Andrew Read, UK Jens Michael Hertz, DK Malte Spielmann, US Executive Officer Martin Kircher, DE Asbjörg Stray-Pedersen, NO Jerome del Picchia, AT Maris Laan, EE Zeynep Tümer, DK Conxi Lazaro, ES Enza Maria Valente, IT Celine Lewis, UK Thierry Voet, UK Cecilia Lindgren, UK Karin Writzl, SI Annual Meetings Committee 2019 SUNDAY Chair Members Advisors Andrew Read, UK Gunnar Houge, President Jerome del Picchia, Executive Officer of the ESHG Alexandre Reymond, President-elect Jantie de Roos, Rose International Christine Patch, Vice-President Flora van Laer, Rose International Karin Writzl, Secretary-general Oscar Pacheco, Wiener Medizinische Akademie GmbH Carla Oliveira, Deputy Secretary-general Sarah Pirklbauer, Wiener Medizinische Akademie GmbH Andrew Read, Treasurer Joris Veltman, Chair of the SPC MONDAY Board Members Liaison Members Kristiina Aittomäki, FI Aleš Maver, SI Han Brunner, NL Marta Bertoli, UK Philippos Patsalis, CY Francesca Forzano, UK Olaf Bodamer, US Rebecka Ann Pestoff, SE Helena Kääriäinen, FI Isabella Ceccherini, IT Djana Plaseska-Karanfilska, MK Thomas Liehr, DE Angus John Clarke, UK Inga Prokopenko, UK Milan Macek, CZ Jill Clayton-Smith, UK Feliciano Ramos, ES Hans Scheffer, NL Johan den Dunnen, NL André Reis, DE Gert Jan van Ommen, NL TUESDAY Francesca Forzano, UK Olaf Riess, DE Joris Veltman, UK Josef Gecz, AU Sergio Sousa, PT Christian Gilissen, NL Zeynep Tümer, DK Kinga Hadzsiev, HU Birute Tumiene, LT Ellen Heitzer, AT Hilde Van Esch, BE Robert Hofstra, NL Reiner A Veitia, FR Bart L Loeys, BE ESHG Office European Society of Human Genetics c/o Vienna Medical Academy T: +43 1 405 13 83 35 / 41 SATELLITES Andrea Robinson Alser Strasse 4, 1090 Vienna, AT F: +43 1 407 82 74 Alissa McGregor www eshg org E: office@eshg org, membership@eshg org European Human Genetics Conference 2019 Conference Organiser Exhibition, Sponsoring and Hotel Accommodation ESHG 2019 Congress Office Corporate Satellites MCI Amsterdam AWARDS Wiener Medizinische Akademie GmbH ROSE INTERNATIONAL Schipluidenlaan 4, 1062 HE Oscar Pacheco, Sarah Pirklbauer Exhibition Management and