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CONFERENCE 2014 in Conjunction with the European Meeting on Psychosocial Aspects of Genetics 2014 (EMPAG) and the Italian Society of Human Genetics (SIGU)

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CONFERENCE 2014 in Conjunction with the European Meeting on Psychosocial Aspects of Genetics 2014 (EMPAG) and the Italian Society of Human Genetics (SIGU) THE EUROPEAN SOCIETY OF HUMAN GENETICS EUROPEAN HUMAN GENETICS CONFERENCE 2014 in conjunction with the European Meeting on Psychosocial Aspects of Genetics 2014 (EMPAG) and the Italian Society of Human Genetics (SIGU) May 31 - June 3, Milan, Italy Final Programme GENERAL TABLE OF CONTENTS GENERAL General Welcoming Address .........................................................................................................................................................3 Committees - Boards - Organisation ...............................................................................................................................4 Acknowledgements ........................................................................................................................................................5 Future ESHG Conferences..............................................................................................................................................5 CME Credits ....................................................................................................................................................................5 SATURDAY Floorplan of the Conference Centre ................................................................................................................................6 Programme at a Glance .................................................................................................................................................8 Business and Ancillary Meetings ..................................................................................................................................12 Session Type Description ..............................................................................................................................................13 SUNDAY ESHG Scientific Programme - Saturday, May 31 ........................................................................................................................................................16 - Sunday, June 1 ............................................................................................................................................................23 - Monday, June 2 ...........................................................................................................................................................31 - Tuesday, June 3 ..........................................................................................................................................................39 Workshops, Official Satellite Meetings ..........................................................................................................................45 MONDAY Corporate Satellite Meetings ........................................................................................................................................46 Scientific Information Poster Topics ................................................................................................................................................................52 Information for Presenters of Posters and Talks ............................................................................................................52 TUESDAY ESHG Awards and ESHG Young Investigator Awards ..................................................................................................53 Young Investigator Award Candidates ...........................................................................................................................54 Poster Award Candidates ..............................................................................................................................................67 EMPAG Scientific Programme - Saturday, May 31 ........................................................................................................................................................74 PROGRAMME - Sunday, June 1 ............................................................................................................................................................75 - Monday, June 2 ...........................................................................................................................................................77 - Tuesday, June 3 ..........................................................................................................................................................79 Information SC. INFO & YIA SC. INFO & General Information .......................................................................................................................................................82 Registration Fees .........................................................................................................................................................86 Networking Events.........................................................................................................................................................87 Exhibition Information (Opening hours and contact details - See the Exhibition Catalogue for more information) ....... 88 EMPAG INFORMATION 2 ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG GENERAL WELCOMING ADDRESS GENERAL Dear Colleagues and Friends, It was in 1997 in Genoa when the European Society of Human Genetics met in Italy for the last time, so it was time to be back. On behalf of the Italian Society of Human Genetics (SIGU), I cordially welcome you to the European Human SATURDAY Genetics Conference 2014 in Milan. Milan, known as the industrial capital of Italy, also treasures a notable artistic as well as scientific tradition. Just think of Leonardo da Vinci, the visionary genius, author of the Codex Atlanticus and of the Last Supper, that you will be able to admire in the Biblioteca Ambrosiana and in the Refectory of S. Maria delle Grazie, respectively. In that tradition, Milan is today the place of many universities as well as a host of research institutes, providing the right climate for an international scientific meeting, such as the ESHG Conference. SUNDAY Likewise, the Italian Society of Human Genetics will contribute to the success of the Conference with a large participation of its members and with all possible measures of support. Human genetics continues to progress at an unprecedented pace and every annual meeting promises to bring new data to the attention of the scientific community, fostering productive debates and further progress. In this respect, the Milan Conference will not differ from previous ones. Therefore, I expect a numerous and enthusiastic participation. I can MONDAY promise that your stay will be a memorable one. Bienvenuto a Milano! Antonio Amoroso President, Societa Italiana di Genetica Umana and Local Host of the ESHG 2014 TUESDAY Dear colleagues, PROGRAMME On behalf of the EMPAG Scientific Programme Committee, we are glad to welcome colleagues with an interest in psychological, social and ethical issues to the European Meeting on Psychosocial Aspects of Genetics (EMPAG) 2014 in Milan. Our meetings have an international reputation as a key event for those involved in psychosocial research as well as those providing clinical services. The 14th EMPAG is again held in conjunction with the European Human Genetics Conference. It offers an excellent YIA SC. INFO & and comprehensive programme of interest to a range of healthcare professionals and academics including genetic counsellors, psychologists, social workers, medical sociologists, epidemiologists, genetic nurses, clinical geneticists, scientist and ethicists. There are EMPAG plenary sessions, poster presentations and workshops as well as joint EMPAG/ ESHG symposia and educational sessions. We have aimed for a balance between research and practice and to provide time for interaction and discussion. Participants of the European Conference of Human Genetics are welcome in all EMPAG sessions and EMPAG participants have access to all ESHG sessions. EMPAG We are delighted that you have joined us here in Milan for an exciting EMPAG meeting! Elisabetta Razzaboni & Tara Clancy Co-chairs of the EMPAG Scientific Programme Committee INFORMATION ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG 3 GENERAL COMMITTEES - BOARD - ORGANISATION European Society of Human Genetics ESHG Office Executive Board 2013-2014 Scientific Programme Committee GENERAL European Society President Chair of Human Genetics Han Brunner, NL Brunhilde Wirth, DE Karin Knob Vice-President Members Andrea Robinson Stanislas Lyonnet, FR Antonio Amoroso, Local Host, Turin, IT c/o Vienna Medical Academy Jeffrey Barrett, Cambridge, UK Alser Strasse 4 President-Elect Alexis Brice, Paris, FR SATURDAY 1090 Vienna Helena Kääriäinen, FI Paul de Bakker, Utrecht, NL Austria Secretary-General Martina Cornel, Amsterdam, NL T: +43 1 405 13 83 20 or 35 Gunnar Houge, NO Helene Dollfus, Strasbourg, FR F: +43 1 407 82 74 David Fitzpatrick, Edinburgh, UK E: [email protected], Deputy-Secretary-General Francesca Forzano, Genova, IT [email protected] Karin Writzl, SI Maurizio Genuardi, Florence, IT www.eshg.org Treasurer Daniel Grinberg, Barcelona, ES SUNDAY Andrew Read, UK Gunnar Houge, Bergen, NO Erik Iwarsson, Stockholm, SE Executive Officer Xavier Jeunemaitre, Paris, FR Jerome del Picchia, AT Lidia Larizza, Milan, IT Jose C. Machado, Porto, PT Giovanni Neri, Rome, IT William Newman, Manchester, UK MONDAY Minna Nyström, Helsinki, FI Francesc Palau, Valencia, ES Anita Rauch, Zurich, CH Samuli Ripatti, Helsinki, FI Peter N. Robinson, Berlin, DE Marco Seri,
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