{"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\/fr\/our-research-activities\/ithaca-research-meeting\/","title":{"rendered":"R\u00e9union de recherche ITHACA"},"content":{"rendered":"

Le Groupe de travail \u00ab Recherche et innovation \u00bb<\/strong> a lanc\u00e9 en 2023 un nouvel atelier ITHACA consacr\u00e9 \u00e0 la recherche dans le domaine de l'ERN. <\/p>\n\n\n\n

L'objectif de cet \u00e9v\u00e9nement est d'offrir un une nouvelle plateforme permettant aux membres de l'ERN de pr\u00e9senter et de discuter de leurs projets de recherche collaboratifs<\/strong>. <\/p>\n\n\n\n

L'atelier se d\u00e9roule sous la forme d'une r\u00e9union d'une journ\u00e9e qui fait suite \u00e0 la r\u00e9union du conseil d'administration du ITHACA, laquelle a g\u00e9n\u00e9ralement lieu en d\u00e9cembre. Avec ce nouveau rassemblement du r\u00e9seau ERN, nous souhaitons encourager la collaboration ainsi que le partage des connaissances et de l'expertise au sein de la communaut\u00e9 ERN-ITHACA, et faciliter le d\u00e9veloppement de nouveaux projets de recherche. <\/p>\n\n\n\n

L'atelier de recherche de cette ann\u00e9e se tiendra le vendredi 3 d\u00e9cembre \u00e0 Bergen, en Norv\u00e8ge.<\/p>\n\n\n\n

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

Ordre du jour<\/h2>\n\n\n\n
Heure<\/td>Intervenants<\/td>Pr\u00e9sentation<\/td><\/tr>
8 h 25 - 8 h 30<\/td>
Marco Tartaglia et Zeynep T\u00fcmer<\/td>		Discours de bienvenue<\/td><\/tr>
Axes de recherche en mati\u00e8re de diagnostic du programme ERDERA<\/td><\/tr>
8 h 30 - 9 h 00<\/td>Leslie Matalonga<\/td>Axes de recherche en mati\u00e8re de diagnostic dans le cadre du programme ERDERA : processus de soumission des donn\u00e9es et \u00e9tat de pr\u00e9paration des donn\u00e9es<\/td><\/tr>
9 h 30 - 10 h 00<\/td>Sergi Beltran<\/td>Axes de recherche en mati\u00e8re de diagnostic dans le cadre du programme ERDERA : analyses DATF<\/td><\/tr>
10 h 00 - 10 h 30<\/td>Lisenka Vissers<\/td>Axes de recherche en mati\u00e8re de diagnostic dans le cadre de l'initiative \u00ab ERDERA \u00bb : DITF et interpr\u00e9tation des donn\u00e9es<\/td><\/tr>
10 h 30 - 11 h 00<\/td>Pause-caf\u00e9<\/td><\/td><\/tr>
ERN ITHACA rencontre Genturis<\/td><\/tr>
11 h 00 - 11 h 30<\/td>Marjolijn Ligtenberg<\/td>Pr\u00e9sentation de GENTURIS et de l'instabilit\u00e9 g\u00e9nomique dans le cancer et les maladies<\/td><\/tr>
11 h 30 - 12 h 00<\/td>Hilde Brems<\/td>Le concept des RASopathies en mosa\u00efque \/ neurofibromatose et schwannomatose<\/td><\/tr>
12 h 00 - 13 h 00<\/td>Pause d\u00e9jeuner<\/td><\/tr>
12 h 00 - 12 h 30<\/td>Kleoniki Roka<\/td>La biologie des t\u00e9lom\u00e8res et son lien avec les troubles du d\u00e9veloppement<\/td><\/tr>
Conf\u00e9rences sur la recherche collaborative<\/td><\/tr>
13 h 30 - 13 h 45<\/td>Bert Callewaert, Gand, Belgique<\/td>D\u00e9finition du syndrome de Myhre \u00e0 l'\u00e2ge adulte<\/td><\/tr>
13 h 45 - 14 h 00<\/td>Alessandra Renieri, Sienne, Italie<\/td>Syndrome AUTS2 : d\u00e9finition de la corr\u00e9lation g\u00e9notype-ph\u00e9notype<\/td><\/tr>
14 h 00 - 14 h 15<\/td>Maria Eugenia Amato, Barcelone, Espagne<\/td>Caract\u00e9risation g\u00e9notype-ph\u00e9notype des troubles li\u00e9s au g\u00e8ne YWHAG<\/td><\/tr>
14 h 15 - 14 h 30<\/td>Pause-caf\u00e9<\/td><\/tr>
14 h 30 - 14 h 45<\/td>Christiane Zweier, Berne, Suisse<\/td>D\u00e9finition plus pr\u00e9cise des troubles neurod\u00e9veloppementaux associ\u00e9s au g\u00e8ne SCAF4<\/td><\/tr>
14 h 45 - 15 h 00<\/td>Pablo Iruzubieta Agudo, Donostia-Saint-S\u00e9bastien, Espagne<\/td>Caract\u00e9ristiques cliniques, g\u00e9n\u00e9tiques et de neuroimagerie des troubles biall\u00e9liques li\u00e9s au g\u00e8ne NOTCH3<\/td><\/tr>
15 h 00 - 15 h 15<\/td>Gunnar Douzgos Houge, Bergen, Norv\u00e8ge<\/td>Syndrome de Houge-Janssens : aper\u00e7u clinique et nouveaux m\u00e9canismes pathog\u00e9niques<\/td><\/tr>
15 h 15 - 15 h 30<\/td>Conclusion <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
<\/div>\n\n\n\n

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