{"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\/es\/our-research-activities\/ithaca-research-meeting\/","title":{"rendered":"Reuni\u00f3n de investigaci\u00f3n ITHACA"},"content":{"rendered":"

El Grupo de trabajo de Investigaci\u00f3n e Innovaci\u00f3n<\/strong> En 2023 puso en marcha un nuevo taller ITHACA dedicado a la investigaci\u00f3n en el \u00e1mbito de la ERN. <\/p>\n\n\n\n

El objetivo de este evento es ofrecer un una nueva plataforma para que los miembros de la ERN presenten y debatan sus proyectos de investigaci\u00f3n colaborativos<\/strong>. <\/p>\n\n\n\n

El taller se celebra en forma de reuni\u00f3n de un solo d\u00eda tras la reuni\u00f3n de la Junta Directiva de ITHACA, que suele tener lugar en diciembre. Con este nuevo encuentro de la ERN, queremos fomentar la colaboraci\u00f3n y el intercambio de conocimientos y experiencia en toda la comunidad ERN-ITHACA, as\u00ed como facilitar el desarrollo de nuevos proyectos de investigaci\u00f3n. <\/p>\n\n\n\n

El taller de investigaci\u00f3n de este a\u00f1o se celebrar\u00e1 el viernes 3 de diciembre en Bergen, Noruega.<\/p>\n\n\n\n

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

Orden del d\u00eda<\/h2>\n\n\n\n
Hora<\/td>Ponentes<\/td>Presentaci\u00f3n<\/td><\/tr>
8:25-8:30<\/td>
Marco Tartaglia y Zeynep T\u00fcmer<\/td>		Discurso de bienvenida<\/td><\/tr>
L\u00edneas de trabajo de investigaci\u00f3n diagn\u00f3stica del programa ERDERA<\/td><\/tr>
8:30-9:00<\/td>Leslie Matalonga<\/td>L\u00edneas de trabajo de investigaci\u00f3n diagn\u00f3stica en ERDERA: procesos de env\u00edo de datos y preparaci\u00f3n de los datos<\/td><\/tr>
9:30-10:00<\/td>Sergi Beltr\u00e1n<\/td>L\u00edneas de trabajo de investigaci\u00f3n diagn\u00f3stica en ERDERA: an\u00e1lisis del DATF<\/td><\/tr>
10:00-10:30<\/td>Lisenka Vissers<\/td>L\u00edneas de trabajo de investigaci\u00f3n diagn\u00f3stica en ERDERA: DITF e interpretaci\u00f3n de datos<\/td><\/tr>
10:30-11:00<\/td>Pausa para el caf\u00e9<\/td><\/td><\/tr>
ERN ITHACA se re\u00fane con Genturis<\/td><\/tr>
11:00-11:30<\/td>Marjolijn Ligtenberg<\/td>Introducci\u00f3n a GENTURIS y a la inestabilidad gen\u00f3mica en el c\u00e1ncer y otras enfermedades<\/td><\/tr>
11:30-12:00<\/td>Hilde Brems<\/td>El concepto de las RASopat\u00edas en mosaico \/ neurofibromatosis y schwannomatosis<\/td><\/tr>
12:00-13:00<\/td>Pausa para comer<\/td><\/tr>
12:00-12:30<\/td>Kleoniki Roka<\/td>La biolog\u00eda de los tel\u00f3meros y su relaci\u00f3n con los trastornos del desarrollo<\/td><\/tr>
Charlas sobre investigaci\u00f3n colaborativa<\/td><\/tr>
13:30-13:45<\/td>Bert Callewaert, Gante, B\u00e9lgica<\/td>Definici\u00f3n del s\u00edndrome de Myhre en la edad adulta<\/td><\/tr>
13:45-14:00<\/td>Alessandra Renieri, Siena, Italia<\/td>S\u00edndrome AUTS2: definici\u00f3n de la correlaci\u00f3n genotipo-fenotipo<\/td><\/tr>
14:00-14:15<\/td>Mar\u00eda Eugenia Amato, Barcelona, Espa\u00f1a<\/td>Caracterizaci\u00f3n genot\u00edpica y fenot\u00edpica de los trastornos relacionados con el gen YWHAG<\/td><\/tr>
14:15-14:30<\/td>Pausa para el caf\u00e9<\/td><\/tr>
14:30-14:45<\/td>Christiane Zweier, Berna, Suiza<\/td>Mayor delimitaci\u00f3n de los trastornos del desarrollo neurol\u00f3gico (NDD) asociados a SCAF4<\/td><\/tr>
14:45-15:00<\/td>Pablo Iruzubieta Agudo, Donostia-San Sebasti\u00e1n, Espa\u00f1a<\/td>Caracter\u00edsticas cl\u00ednicas, gen\u00e9ticas y de neuroimagen de los trastornos bial\u00e9licos del gen NOTCH3<\/td><\/tr>
15:00-15:15<\/td>Gunnar Douzgos Houge, Bergen, Noruega<\/td>S\u00edndrome de Houge-Janssens: visi\u00f3n general cl\u00ednica y nuevos mecanismos patog\u00e9nicos<\/td><\/tr>
15:15-15:30<\/td>Palabras de clausura <\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n
<\/div>\n\n\n\n

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