{"id":21297,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/zusammenfassung-der-mecp2-duplikation-syndrom-familiensitzung-in-manchester\/"},"modified":"2023-11-06T08:21:26","modified_gmt":"2023-11-06T08:21:26","slug":"zusammenfassung-familiensitzung-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/it\/zusammenfassung-familiensitzung-manchester\/","title":{"rendered":"Zusammenfassung der MECP2 Duplikation Syndrom-Familiensitzung in Manchester"},"content":{"rendered":"

Il 28. Oktober nahmen Mitglieder unseres Teams - Ana (Vorstandsmitglied), Caroline (Vorstandsmitglied, Vizepr\u00e4sidentin) und Dr. Gudrun Gr\u00f6ppel (MDS-Medizinexpertin) - an dem MDS-Familientreffen in Manchester teil.<\/p>\n\n\n\n

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Tisch von DupMECP2 - von links nach rechts: Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

Es war eine fantastische Gelegenheit f\u00fcr betroffene Familien und Wissenschaftler, sich zu versammeln, um Erfahrungen auszutauschen und M\u00f6glichkeiten zur Verbesserung der Lebensqualit\u00e4t von Betroffenen, Forschungsaktualisierungen und Perspektiven auf klinische Studien im Jahr 2024 zu h\u00f6ren.<\/p>\n\n\n\n

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\"\"<\/figure>\n\n\n\n
\"\"<\/figure>\n<\/figure>\n\n\n\n

Qui c'\u00e8 una raccolta dei temi pi\u00f9 importanti, che sono stati trattati nelle presentazioni:<\/p>\n\n\n\n

- Il Dr. Pehlivan ha presentato i risultati di uno studio genetico che ha identificato le correlazioni tra le mutazioni genetiche e la manifestazione della sindrome nei pazienti. Questa ricerca rappresenta un passo importante nella comprensione di queste sindromi. I Teilnehmer hanno avuto anche la gelosia di far approvare al Dr. Pehlivan il Blutproben per ulteriori ricerche genetiche. Il Dr. Pehlivan ha proposto una serie di suggerimenti per il Blutproben. Se siete interessati ad un contributo alla ricerca, contattateci e vi invieremo i suggerimenti necessari.<\/p>\n\n\n\n

- La dott.ssa Christine Coquery di Ionis Pharmaceutical ha pubblicato un aggiornamento sul programma MDS con l'oligonucleotide antisenso ION440. Lo studio di storia naturale (NHS) ha gi\u00e0 incluso pazienti negli USA. Lo studio clinico \u00e8 stato avviato negli Stati Uniti, in Canada, in Spagna, in Gran Bretagna, in Francia e in Australia, a seguito di una valutazione delle condizioni di salute dei pazienti. L'obiettivo dell'implementazione di ION440 in una prima fase \u00e8 dimostrare la sicurezza e la correttezza dell'ASO in un piccolo gruppo di pazienti. Ulteriori dettagli saranno pubblicati dalle autorit\u00e0 dopo l'approvazione del protocollo di studio.<\/p>\n\n\n\n

\n
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Dr. Gudrun Gr\u00f6ppel, Caroline e Ana<\/figcaption><\/figure>\n\n\n\n
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Incontro con la dott.ssa Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr. Pehlivan, Dr. Coquery, Caroline e Ana<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

- I medici specialisti del Texas Children's Hospital di Houston hanno effettuato valide analisi per individuare i diversi sintomi in relazione alla sindrome, come l'impatto con le infezioni pi\u00f9 gravi, i problemi di sviluppo globale e i problemi del braccio magmatico.<\/p>\n\n\n\n

Il Dr. Santosh (King's College, Londra) ha presentato un Fallstudie, che ha evidenziato il potenziale della K\u00fcnstlicher Intelligenz (KI) come strumento per l'analisi delle caratteristiche di Nutzen-Risiko-Verh\u00e4ltnisses e di Behandlung bei jungen nonverbalen Patienten, insbesondere bei Patienten mit dem Rett-Syndrom.<\/p>\n\n\n\n

- La professoressa Huda Zoghbi ha chiuso la conferenza ringraziando tutte le famiglie, i ricercatori e gli sponsor che hanno contribuito a questo progetto e al suo successo sulla strada della guarigione. Ihre Botschaft der Hoffnung findet tiefes Echo in der MDS-Gemeinschaft: \"Ich bin sehr optimistisch in Bezug auf die Zukunft und sehr dankbar f\u00fcr Sie\".<\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

Alla fine della settimana, i membri dei gruppi di advocacy si sono riuniti in un evento organizzato da Ionis. \u00c8 stato un momento speciale, che tutti hanno apprezzato e che ci ha permesso di tenere riunioni significative durante un pasto.<\/p>\n\n\n\n

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Fine settimana con Ionis<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) e Helen Coles-Harrington (duplicazione MECP2 UK)<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

Vielen Dank an MECP2 Duplikation UK, die die Veranstaltung hat organisiert. Le immagini di tutte le presentazioni con titoli in 13 lingue diverse sono state ottenute in tempi brevi. <\/p>\n\n\n\n

Se avete delle domande, non chiedete a noi di contattarvi.<\/p>","protected":false},"excerpt":{"rendered":"

Am 28. Oktober nahmen Mitglieder unseres Teams – Ana (Vorstandsmitglied), Caroline (Vorstandsmitglied, Vizepr\u00e4sidentin) und Dr. Gudrun Gr\u00f6ppel (MDS-Medizinexpertin) – an dem MDS-Familientreffen in Manchester teil. Es war eine fantastische Gelegenheit […]<\/p>","protected":false},"author":1,"featured_media":21278,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[57],"tags":[],"class_list":["post-21297","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aktualitat"],"yoast_head":"\nZusammenfassung der MECP2 Duplikation Syndrom-Familiensitzung in Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"Es war eine fantastische Gelegenheit f\u00fcr betroffene Familien und Wissenschaftler, sich zu versammeln, um Erfahrungen auszutauschen und M\u00f6glichkeiten zur Verbesserung der Lebensqualit\u00e4t von Betroffenen, Forschungsaktualisierungen und Perspektiven auf klinische Studien zu h\u00f6ren.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/it\/zusammenfassung-familiensitzung-manchester\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Zusammenfassung der MECP2 Duplikation Syndrom-Familiensitzung in Manchester - 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