{"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\/it\/our-research-activities\/ithaca-research-meeting\/","title":{"rendered":"Incontro di ricerca ITHACA"},"content":{"rendered":"

Il Gruppo di lavoro \"Ricerca e innovazione\"<\/strong> nel 2023 ha lanciato un nuovo workshop ITHACA dedicato alla ricerca nel campo dell'ERN. <\/p>\n\n\n\n

Lo scopo di questo evento \u00e8 quello di offrire un nuova piattaforma che consente ai membri dell\u2019ERN di presentare e discutere i propri progetti di ricerca collaborativi<\/strong>. <\/p>\n\n\n\n

Il workshop si svolge sotto forma di incontro di un giorno che segue la riunione del Consiglio di amministrazione di ITHACA, che di solito si tiene a dicembre. Con questo nuovo incontro dell\u2019ERN, intendiamo incoraggiare la collaborazione e la condivisione di conoscenze e competenze all\u2019interno della comunit\u00e0 ERN-ITHACA, nonch\u00e9 facilitare lo sviluppo di nuovi progetti di ricerca. <\/p>\n\n\n\n

Il seminario di ricerca di quest'anno si terr\u00e0 venerd\u00ec 3 dicembre a Bergen, in Norvegia.<\/p>\n\n\n\n

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

Ordine del giorno<\/h2>\n\n\n\n
Ora<\/td>Relatori<\/td>Presentazione<\/td><\/tr>
8:25-8:30<\/td>
Marco Tartaglia e Zeynep T\u00fcmer<\/td>		Discorso di benvenuto<\/td><\/tr>
Linee di ricerca diagnostica ERDERA<\/td><\/tr>
8:30-9:00<\/td>Leslie Matalonga<\/td>Linee di ricerca diagnostica nell\u2019ambito di ERDERA: processi di invio dei dati e preparazione dei dati<\/td><\/tr>
9:30-10:00<\/td>Sergi Beltran<\/td>Linee di ricerca diagnostica in ERDERA: analisi DATF<\/td><\/tr>
10:00-10:30<\/td>Lisenka Vissers<\/td>Linee di ricerca diagnostica nel progetto ERDERA: DITF e interpretazione dei dati<\/td><\/tr>
10:30-11:00<\/td>Pausa caff\u00e8<\/td><\/td><\/tr>
ERN ITHACA incontra Genturis<\/td><\/tr>
11:00-11:30<\/td>Marjolijn Ligtenberg<\/td>Introduzione a GENTURIS e all\u2019instabilit\u00e0 genomica nel cancro e nelle malattie<\/td><\/tr>
11:30-12:00<\/td>Hilde Brems<\/td>Il concetto di RASopatie a mosaico \/ neurofibromatosi e schwannomatosi<\/td><\/tr>
12:00-13:00<\/td>Pausa pranzo<\/td><\/tr>
12:00-12:30<\/td>Kleoniki Roka<\/td>La biologia dei telomeri e il suo legame con i disturbi dello sviluppo<\/td><\/tr>
Incontri di ricerca collaborativa<\/td><\/tr>
13:30-13:45<\/td>Bert Callewaert, Gand, Belgio<\/td>Definizione della sindrome di Myhre nell'et\u00e0 adulta<\/td><\/tr>
13:45-14:00<\/td>Alessandra Renieri, Siena, Italia<\/td>Sindrome AUTS2: definizione della correlazione genotipo-fenotipo<\/td><\/tr>
14:00-14:15<\/td>Maria Eugenia Amato, Barcellona, Spagna<\/td>Caratterizzazione genotipo-fenotipo delle malattie correlate al gene YWHAG<\/td><\/tr>
14:15-14:30<\/td>Pausa caff\u00e8<\/td><\/tr>
14:30-14:45<\/td>Christiane Zweier, Berna, Svizzera<\/td>Ulteriore definizione dei disturbi dello sviluppo neurologico associati a SCAF4<\/td><\/tr>
14:45-15:00<\/td>Pablo Iruzubieta Agudo, Donostia-San Sebasti\u00e1n, Spagna<\/td>Caratteristiche cliniche, genetiche e di neuroimaging delle patologie bialleliche legate al gene NOTCH3<\/td><\/tr>
15:00-15:15<\/td>Gunnar Douzgos Houge, Bergen, Norvegia<\/td>Sindrome di Houge-Janssens: panoramica clinica e nuovi meccanismi patogenetici<\/td><\/tr>
15:15-15:30<\/td>Conclusioni <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
<\/div>\n\n\n\n

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