{"id":6031,"date":"2024-10-29T15:46:26","date_gmt":"2024-10-29T14:46:26","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6031"},"modified":"2025-11-24T13:49:16","modified_gmt":"2025-11-24T12:49:16","slug":"ithaca-research-meeting","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/de\/our-research-activities\/ithaca-research-meeting\/","title":{"rendered":"ITHACA-Forschungstreffen"},"content":{"rendered":"

Die Arbeitsgruppe \u201eForschung und Innovation\u201c<\/strong> startete im Jahr 2023 einen neuen ITHACA-Workshop, der der Forschung im Bereich des ERN gewidmet ist. <\/p>\n\n\n\n

Das Ziel dieser Veranstaltung ist es, eine neue Plattform f\u00fcr ERN-Mitglieder, auf der sie ihre gemeinsamen Forschungsprojekte vorstellen und diskutieren k\u00f6nnen<\/strong>. <\/p>\n\n\n\n

Der Workshop findet als eint\u00e4gige Veranstaltung im Anschluss an die ITHACA-Vorstandssitzung statt, die in der Regel im Dezember abgehalten wird. Mit dieser neuen ERN-Veranstaltung m\u00f6chten wir die Zusammenarbeit sowie den Austausch von Wissen und Fachkenntnissen innerhalb der ERN-ITHACA-Gemeinschaft f\u00f6rdern und die Entwicklung neuer Forschungsprojekte unterst\u00fctzen. <\/p>\n\n\n\n

Der diesj\u00e4hrige Forschungsworkshop findet am Freitag, dem 3. Dezember, in Bergen, Norwegen, statt.<\/p>\n\n\n\n

<\/div>\n\n\n\n

Tagesordnung<\/h2>\n\n\n\n
Zeit<\/td>Referenten<\/td>Pr\u00e4sentation<\/td><\/tr>
8:25\u20138:30 Uhr<\/td>
Marco Tartaglia und Zeynep T\u00fcmer<\/td>		Begr\u00fc\u00dfungsrede<\/td><\/tr>
ERDERA \u2013 Arbeitsbereiche der diagnostischen Forschung<\/td><\/tr>
8:30\u20139:00 Uhr<\/td>Leslie Matalonga<\/td>Forschungsarbeitsstr\u00e4nge im Bereich Diagnostik bei ERDERA: Verfahren zur Daten\u00fcbermittlung und Datenbereitschaft<\/td><\/tr>
9:30\u201310:00 Uhr<\/td>Sergi Beltran<\/td>Diagnostische Forschungsarbeitsstr\u00e4nge in ERDERA: DATF-Analysen<\/td><\/tr>
10:00\u201310:30 Uhr<\/td>Lisenka Vissers<\/td>Forschungsschwerpunkte im Bereich Diagnostik bei ERDERA: DITF und Datenauswertung<\/td><\/tr>
10:30\u201311:00 Uhr<\/td>Kaffeepause<\/td><\/td><\/tr>
ERN ITHACA trifft auf Genturis<\/td><\/tr>
11:00\u201311:30 Uhr<\/td>Marjolijn Ligtenberg<\/td>Einf\u00fchrung in GENTURIS und genomische Instabilit\u00e4t bei Krebs und anderen Erkrankungen<\/td><\/tr>
11:30\u201312:00 Uhr<\/td>Hilde Brems<\/td>Das Konzept der mosaikartigen RASopathien \/ Neurofibromatose und Schwannomatose<\/td><\/tr>
12:00\u201313:00 Uhr<\/td>Mittagspause<\/td><\/tr>
12:00\u201312:30 Uhr<\/td>Kleoniki Roka<\/td>Die Telomerbiologie und ihr Zusammenhang mit Entwicklungsst\u00f6rungen<\/td><\/tr>
Vortr\u00e4ge im Rahmen gemeinsamer Forschungsprojekte<\/td><\/tr>
13:30\u201313:45 Uhr<\/td>Bert Callewaert, Gent, Belgien<\/td>Definition des Myhre-Syndroms im Erwachsenenalter<\/td><\/tr>
13:45\u201314:00 Uhr<\/td>Alessandra Renieri, Siena, Italien<\/td>AUTS2-Syndrom: Definition der Genotyp-Ph\u00e4notyp-Korrelation<\/td><\/tr>
14:00\u201314:15 Uhr<\/td>Maria Eugenia Amato, Barcelona, Spanien<\/td>Genotyp-Ph\u00e4notyp-Charakterisierung von YWHAG-assoziierten Erkrankungen<\/td><\/tr>
14:15\u201314:30 Uhr<\/td>Kaffeepause<\/td><\/tr>
14:30\u201314:45 Uhr<\/td>Christiane Zweier, Bern, Schweiz<\/td>Weitergehende Abgrenzung von SCAF4-assoziierten NDDs<\/td><\/tr>
14:45\u201315:00 Uhr<\/td>Pablo Iruzubieta Agudo, Donostia-San Sebasti\u00e1n, Spanien<\/td>Klinische, genetische und neurobildgebende Merkmale biallelischer NOTCH3-Erkrankungen<\/td><\/tr>
15:00\u201315:15 Uhr<\/td>Gunnar Douzgos Houge, Bergen, Norwegen<\/td>Houge-Janssens-Syndrom: Klinischer \u00dcberblick und neue pathogenetische Mechanismen<\/td><\/tr>
15:15\u201315:30 Uhr<\/td>Schlussworte <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
<\/div>\n\n\n\n

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