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Gfh 2016 Tagungsband Final.Pdf 27. Jahrestagung der Deutschen Gesellschaft für Humangenetik 27. Jahrestagung der Deutschen Gesellschaft für Humangenetik gemeinsam mit der Österreichischen Gesellschaft für Humangenetik und der Schweizerischen Gesellschaft für Medizinische Genetik 16.–18. 3. 2016, Lübeck Tagungsort Prof. Dr. med. Jörg Epplen, Bochum (Tagungspräsident 2017) Prof. Dr. med. Michael Speicher, Graz (Tagungspräsident 2015) Hotel Hanseatischer Hof Prof. Dr. med. Klaus Zerres, Aachen Wisbystraße 7–9 Prof. Dr. rer. nat. Wolfgang Berger, Zürich (Delegierter der SGMG) 23558 Lübeck Univ.-Prof. DDr. med. univ. Johannes Zschocke, Telefon: (0451) 3 00 20-0 (Innsbruck Delegierter der ÖGH) http://www.hanseatischer- hof.de/ [email protected] Fachgesellschaften Die Jahrestagung fi ndet im Hotel Hanseatischer Hof statt, das sich Deutsche Gesellschaft für Humangenetik (GfH) in in fussläufi ger Entfernung vom Lübecker Hauptbahnhof befi ndet. Vorsitzender: Prof. Dr. med. Klaus Zerres, Aachen Stellvertretende Vorsitzende: Prof. Dr. med. Gabriele Gillessen- Tagungspräsidentin Kaesbach, Lübeck Stellvertretende Vorsitzende: Prof. Dr. biol. hum. Hildegard Prof. Dr. med. Gabriele Gillessen- Kaesbach Kehrer- Sawatzki, Ulm Institut für Humangenetik Schatzmeister: Dr. rer. nat. Wolfram Kress, Würzburg Universität zu Lübeck/UKSH Schrift führerin: Dr. rer. nat. Simone Heidemann, Kiel Ratzeburger Allee 160, Haus 72 23538 Lübeck Österreichische Gesellschaft für Humangenetik (ÖGH) Telefon: 0049-451-500-2620 Univ. Prof. Dr. med. univ. Michael Speicher, Graz (Vorsitzender) Fax: 0049-451-500-4187 Univ. Doz. Dr. med. univ. Hans-Christoph Duba, Linz (Stellvertre- tende Vorsitzende) Tagungsorganisation Univ.-Prof. DDr. med. univ. Johannes Zschocke, Innsbruck (Stellvertretende Vorsitzende) Dr. Christine Scholz (Leitung) Dr. Gerald Webersinke, Linz (Schrift führer) Brigitte Fiedler (Teilnehmerregistrierung) Ass.-Prof. Priv. Doz. Dr. med. univ. Franco Laccone, Wien (Stellver- Deutsche Gesellschaft für Humangenetik e. V. tretender Schrift führer) GfH-Geschäft sstelle Univ.-Prof. Dr. med. univ. Peter Kroisel, Graz (Kassier) Inselkammerstr. 5 Dr. Ingrid Bader, MSc., Salzburg Stellvertretende (Kassierin) 82008 München-Unterhaching Univ.-Prof. Dr. med. univ. Florian Kronenberg, Innsbruck (Beisitzer) Tel. +49-(0)89-61456959 Univ. Prof. Dr. med. univ. Berthold Streubel, Wien (Assoziiert) Fax +49-(0)89-55027856 Univ. Doz. Dr. med. univ. Hans-Christoph Duba, Linz (Bundesfach- registrierung@gfh ev.de gruppenobmann Medizinische Genetik der ÖGH) Programmkommission Schweizerische Gesellschaft für Medizinische Genetik (SGMG) Sprecher der Programmkommission Co-Presidents: Prof. Dr. med. Christian Kubisch, Hamburg Prof. Dr. rer. nat. Wolfgang Berger, Zürich Dr. med. Siv Fokstuen, Genf Mitglieder Members of the Committee: Prof. Dr. med. Gillessen-Kaesbach, Lübeck (Tagungspräsidentin 2016) PD Dr. med. Deborah Bartholdi, Bern Prof. Dr. rer. nat. Kerstin Kutsche, Hamburg Prof. Dr. rer. nat. Sven Cichon, Basel Prof. Dr. med. Judith Fischer, Freiburg Prof. Dr. med., Dr. phil. II Karl Heinimann, Basel Prof. Dr. med. Th omas Haaf, Würzburg Dr. phil. nat. Franziska Joncourt, Bern Dr. med. Yorck Hellenbroich, Lübeck MSc Maurus Locher, Genf Prof. Dr. rer. nat. Frank Kaiser, Lübeck Dr. med. Dunja Niedrist, Zürich Prof. Dr. med. Reiner Siebert, Kiel Dr. Sc. nat. Elisabeth Saller, Zürich 58 medizinische genetik 1 · 2016 Grußworte der Tagungspräsidentin Liebe Kolleginnen und Kollegen, wig-Holstein den Studiengang Medizin aufzulösen. Der großen und überwältigenden Solidarität in der Kampagne „Lübeck kämpft “ der vom 16.–18. März 2016 wird die Studierenden, der Lehrenden aus Lübeck und vielen Hochschulen, 27. Jahrestagung der Deutschen Vertretern der Stadtpolitik und Wirtschaft sowie der Bürgerinnen Gesellschaft für Humangenetik und Bürger der Stadt Lübeck ist es zu verdanken, dass die Pläne der (GfH) gemeinsam mit der Öster- Landesregierung zurückgenommen wurden und der Standort Lübeck reichischen Gesellschaft für Hu- nun gesichert scheint. Seit ihrer Umstrukturierung mit neuer Verfas- mangengenetik (ÖGH) und der sung (2010) hat die UzL die Fakultäten aufgegeben und die Entschei- Schweizerischen Gesellschaft für dungskompetenz auf der Ebene des Präsidiums gebündelt. Ein ent- Medizinische Genetik (SGMG) scheidender Schritt in Hinblick auf mehr Unabhängigkeit war dann in Lübeck stattfi nden. Gemein- im Januar 2015 die Umwandlung der UzL in eine Stift ungsuniver- sam mit meinen Mitarbeiterin- sität. Gleichberechtigt neben der Medizin existieren die MINT-Fä- nen und Mitarbeitern möchte ich cher (Mathematik, Informatik, Naturwissenschaft und Technik), die Sie hierzu ganz herzlich einladen. den ca. 3500 Studierenden ein großes Fächerspektrum anbieten. Die Viele werden sich an die erfolg- 8 Prof. Dr. med. Gillessen-Kaesbach wissenschaft lichen Schwerpunkte sind in Profi lbereiche gegliedert, reiche Jahrestagung der GfH in zu denen auch die Medizinische Genetik gehört. Kern-Forschungs- Lübeck, die im Jahr 2000 unter Leitung von Prof Dr Eberhard Schwin- gebiete der UzL sind: Infektion und Entzündung, Gehirn, Hormone ger stattfand, erinnern. und Verhalten sowie Biomedizintechnik. Die Universität zu Lübeck, die 2014 ihr 50-jähriges Jubiläum fei- Im Jahr 1974 wurde der Beschluss gefasst, in Lübeck ein Insti- ern konnte, gehört zu den jüngeren universitären Einrichtungen in tut für Humangenetik zu gründen. Erster Leiter war Prof. Dr. Rudolf Deutschland und weist dennoch seit ihrer Gründung eine wechsel- (1975–1978). Im Anschluss übernahm Prof. Dr. Eberhard Schwinger volle Geschichte auf. Im Rahmen der Eröff nungsveranstaltung wird (1979–2005) die Leitungsfunktion. Im Jahr 2006 durft e ich dann die uns Björn Engholm einen kurzen Abriss der Geschichte der Lübe- Leitung des Instituts übernehmen. Wissenschaft liche Schwerpunk- cker Universität und der Entwicklung der Hansestadt geben. Unsere te waren zunächst die Pränataldiagnostik und die Neurogenetik. Seit Eröff nungsveranstaltung wird musikalisch von der Klezmer-Gruppe 2006 bestehen drei wissenschaft liche Schwerpunkte: Klinische Ge- YXALAG begleitet – die sich aus ehemaligen Studenten der Lübecker netik, Funktionelle Genetik und Präimplantationsdiagnostik. Vor Musikhochschule zusammensetzt. drei Jahren wurden eine W2-Professur und eine Sektion für funktio- 1964 wurde die Medizinische Akademie Lübeck als zweite Medi- nelle Genetik (Prof. Dr. Frank Kaiser) eingerichtet. Im Dezember 2013 zinische Fakultät der Christian-Albrechts-Universität zu Kiel gegrün- wurde das Lübecker-Zentrum für seltene Erkrankungen gegründet det. 1973 erfolgte eine Umbenennung in Medizinische Hochschule (stellvertretende Sprecherin: Prof Dr Gabriele Gillessen-Kaesbach). zu Lübeck. Erst sechs Jahre später (1979) konnte der gesamte Studien- Im Februar 2014 erteilte das Landesministerium Schleswig-Holstein gang Humanmedizin (vorklinischer und klinischer Abschnitt) ange- die Zulassung für das Zentrum für Präimplantationsdiagnostik. Das boten werden. Gleichzeitig wurde die Naturwissenschaft liche Fakul- Lübecker Institut für Humangenetik ist auf dem Campus hervorra- tät gegründet. Weitere Umbenennungen in Medizinische Universität gend sichtbar und vernetzt, insbesondere durch klinische und wissen- zu Lübeck (1985) und in Universität zu Lübeck (UzL) (2002) folg- schaft liche Kooperationen mit dem Institut für Neurogenetik (Prof. ten. Im Jahr 2010 gab es Bestrebungen der Landesregierung Schles- Dr. Christine Klein), dem Institut für integrative Genomik (Prof. Dr. © ############## 8 Größte Demonstration in der Geschichte Schleswig-Holstein am © ############## 16. 6. 2016 aus Anlass der drohenden Schließung der Medizin. Mehr als 8 Mitarbeiter des Instituts für Humangenetik Lübeck vor Haus 72 14.000 Personen demonstrieren friedlich in Kiel medizinische genetik 1 · 2016 59 27. Jahrestagung der Deutschen Gesellschaft für Humangenetik Im Talk nach 12 bieten wir eine Podiumsdiskussion mit Vertre- tern der Pathologie, Gynäkologie und Humangenetik zum Th ema: „Somatische Mutationen – Keimbahnmutationen an“. Neu in das Programm wurden aufgenommen: die Veranstaltungen mit den Pro und Kontra-Th emen: „PID: Erwartungen und Wirklichkeit“ und „Personalisierte Medizin – Der Weg vom genetischen Befund bei multifaktoriellen Erkrankungen hin zum klinischen Alltag: Fakt oder Fiktion?“. Zum Th ema Selbsthilfegruppen erwartet Sie eine gemein- same Veranstaltung der GfH und des VPAH: „Selbsthilfe und Hu- mangenetik – Zweckehe oder Partnerschaft ?“, sowie die „Chorea Huntington Konsortiumssitzung“, zu der alle interessierten Hu- mangenetiker sehr herzlich eingeladen sind. Auch in diesem Jahr wird es zwei Fortbildungsveranstaltungen geben: EDU 1 „Der un- gelöste Fall“ und EDU 2 „Bewegungsstörungen“. Traditionsgemäß eröff nen wir unsere Tagung mit der Schülerveranstaltung; in diesem Jahr mit dem Th ema: Wie wird der Mensch zum Modellbaukasten? © ############## Herzlich einladen möchte ich Sie auch zu unserem Gesellschaft s- 8 Haus 72, Institut für Humangenetik Campus Lübeck abend, der im Radisson Blue am Fluss der Trave stattfi ndet. Kurzfristig mussten wir den Veranstaltungsort in das Hotel Hanse- atischer Hof verlegen, da der Konzertsaal der Musik- und Kongress- Jeanette Erdmann) sowie mit der Abteilung für pädiatrische Endokri- halle im September letzten Jahres aufgrund von Sicherheitsmängeln nologie (Prof. Dr. Hiort). geschlossen wurde. Ich hoff e, dass Ihnen – trotz einiger Kompromis- Die Programmkommission unter Leitung von Prof. Dr. Christian se – der diesjährige Veranstaltungsort in guter Erinnerung bleibt. Der Kubisch
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