{"id":21299,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/riassunto-della-conferenza-delle-famiglie-mds-a-manchester\/"},"modified":"2025-12-01T14:57:47","modified_gmt":"2025-12-01T13:57:47","slug":"konferencja-riassunto-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/konferencja-riassunto-manchester\/","title":{"rendered":"Raport z konferencji rodzinnej MDS w Manchesterze"},"content":{"rendered":"

Spotkanie rodziny MDS odby\u0142o si\u0119 w Manchesterze pod koniec ubieg\u0142ego tygodnia i wzi\u0119\u0142o w nim udzia\u0142 kilku cz\u0142onk\u00f3w naszego zespo\u0142u: Ana (cz\u0142onek zarz\u0105du), Caroline (cz\u0142onek zarz\u0105du i wiceprezes) oraz dr Gundrun Gr\u00f6ppel (ekspert medyczny MDS). Gundrun Gr\u00f6ppel (ekspert medyczny MDS).<\/p>\n\n

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La tavola di DupMECP2 - da sinistra a destra Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n

By\u0142a to wyj\u0105tkowa okazja dla rodzin os\u00f3b dotkni\u0119tych MDS i naukowc\u00f3w do podzielenia si\u0119 do\u015bwiadczeniami i poznania sposob\u00f3w poprawy jako\u015bci \u017cycia pacjent\u00f3w, uzyskania informacji na temat bada\u0144 i prognoz dotycz\u0105cych test\u00f3w klinicznych przewidzianych na rok 2024.<\/p>\n\n

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

Oto podsumowanie g\u0142\u00f3wnych argument\u00f3w omawianych podczas prezentacji:<\/p>\n\n

- Dott. Pehlivan przedstawi\u0142 wyniki badania genetycznego, kt\u00f3re zidentyfikowa\u0142o korelacj\u0119 mi\u0119dzy mutacj\u0105 genetyczn\u0105 a manifestacj\u0105 zespo\u0142u u pacjent\u00f3w. Badanie to stanowi kluczowy krok naprz\u00f3d w naszym zrozumieniu zespo\u0142u. Uczestnicy mieli r\u00f3wnie\u017c mo\u017cliwo\u015b\u0107 oddania obozu krwi Dott. Pehlivana, aby przyczyni\u0107 si\u0119 do przysz\u0142ych bada\u0144 genetycznych. Il Dott. Pehlivan ma r\u00f3wnie\u017c mo\u017cliwo\u015b\u0107 dostarczenia pr\u00f3bek do bada\u0144 genetycznych. Je\u015bli jeste\u015b zainteresowany udzia\u0142em w badaniach, skontaktuj si\u0119 z nami, a prze\u015blemy Ci zestawy testowe wraz z odpowiednimi instrukcjami.<\/p>\n\n

- Dr Christine Coquery z Ionis Pharmaceutical poinformowa\u0142a o swoim programie bada\u0144 nad MDS z ASO ION440. Rekrutacja pacjent\u00f3w do badania nad histori\u0105 naturaln\u0105 (NHS) rozpocz\u0119\u0142a si\u0119 w Stanach Zjednoczonych. Badania kliniczne b\u0119d\u0105 prowadzone w Kanadzie, Hiszpanii, Wielkiej Brytanii, Francji i Australii oraz w innych krajach na podstawie zgody odpowiednich organ\u00f3w sanitarnych. Pocz\u0105tkowo badanie ION440 mia\u0142o na celu ocen\u0119 bezpiecze\u0144stwa i tolerancji ION440 w ma\u0142ej grupie pacjent\u00f3w. Dalsze szczeg\u00f3\u0142y zostan\u0105 podane po zatwierdzeniu protoko\u0142u badania przez w\u0142adze.<\/p>\n\n

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Dr Gudrun Gr\u00f6ppel, Caroline e Ana<\/figcaption><\/figure>\n\n\n\n
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Prelievo di sangue z dr Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr Pehlivan, Dr Coquery, Caroline i Ana<\/figcaption><\/figure>\n<\/figure>\n\n

Specjali\u015bci z Texas Children's Hospital w Houston udzielili cennych wskaz\u00f3wek, jak radzi\u0107 sobie z typowymi objawami zespo\u0142u, takimi jak nawracaj\u0105ce infekcje, problemy rozwojowe i zaburzenia \u017co\u0142\u0105dkowo-jelitowe.<\/p>\n\n

- Il Dott. Santosh (King's College, Londra) przedstawi\u0142 studium przypadku, kt\u00f3re podkre\u015bli\u0142o potencja\u0142 sztucznej inteligencji jako u\u017cytecznego narz\u0119dzia do oceny relacji mi\u0119dzy korzy\u015bciami a ryzykiem w leczeniu m\u0142odych pacjent\u00f3w, kt\u00f3rzy nie s\u0105 w stanie m\u00f3wi\u0107, ze szczeg\u00f3lnym uwzgl\u0119dnieniem pacjent\u00f3w cierpi\u0105cych na zesp\u00f3\u0142 Retta.<\/p>\n\n

- Prof. ssa Huda Zoghbi zamkn\u0119\u0142a spotkanie, wyra\u017caj\u0105c wdzi\u0119czno\u015b\u0107 wszystkim rodzinom, badaczom i osobom wspieraj\u0105cym, kt\u00f3re przyczyni\u0142y si\u0119 do tego projektu i jego post\u0119p\u00f3w w poszukiwaniu lekarstwa. Jej przes\u0142anie nadziei g\u0142\u0119boko poruszy\u0142o serca spo\u0142eczno\u015bci MDS: \"Sono molto ottimista per il futuro e molto grata a tutti voi\".<\/p>\n\n

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

Pod koniec dnia pracy przedstawiciele obecnych stowarzysze\u0144 spotkali si\u0119 na posi\u0142ku sponsorowanym przez firm\u0119 Ionis. By\u0142 to wyj\u0105tkowy moment, kt\u00f3ry po\u0142\u0105czy\u0142 wszystkich, daj\u0105c im mo\u017cliwo\u015b\u0107 kontynuowania wa\u017cnych dyskusji podczas posi\u0142ku.<\/p>\n\n

\n
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Cena chiusura z Ionis<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) i Helen Coles-Harrington (duplikacja MECP2 UK)<\/figcaption><\/figure>\n<\/figure>\n\n

Podzi\u0119kowania dla \"MECP2 duplication UK\", kt\u00f3ry zorganizowa\u0142 to wydarzenie. Rejestr wszystkich prezentacji w 13 r\u00f3\u017cnych j\u0119zykach zostanie wkr\u00f3tce udost\u0119pniony. W razie pyta\u0144 prosimy o kontakt.<\/p>","protected":false},"excerpt":{"rendered":"

Lo scorso fine settimana si \u00e8 tenuto a Manchester il meeting delle famiglie MDS e alcuni membri del nostro team vi hanno partecipato: Ana (membro del consiglio), Caroline (membro del […]<\/p>","protected":false},"author":1,"featured_media":21279,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[137],"tags":[],"class_list":["post-21299","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-notizie"],"yoast_head":"\nRiassunto della conferenza delle famiglie MDS a Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"E\u2019 stata un\u2019opportunit\u00e0 straordinaria per famigliari delle persone affette da MDS e scienziati di riunirsi allo scopo di condividere esperienze e apprendere modi per migliorare la qualit\u00e0 di vita dei pazienti, avere aggiornamenti sulla ricerca e prospettive sui test clinici.\" \/>\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\/pl\/konferencja-riassunto-manchester\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Riassunto della conferenza delle famiglie MDS a Manchester - 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