{"id":21240,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=21240"},"modified":"2025-12-01T14:57:54","modified_gmt":"2025-12-01T13:57:54","slug":"konferencja-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/konferencja-manchester\/","title":{"rendered":"Podsumowanie konferencji rodzinnej w Manchesterze"},"content":{"rendered":"

28 pa\u017adziernika cz\u0142onkowie naszego zespo\u0142u: Ana (cz\u0142onek zarz\u0105du), Caroline (cz\u0142onek zarz\u0105du, wiceprezes), Jasmin (ambasador w Niemczech) i dr Gudrun Gr\u00f6ppel (ekspert medyczny MDS) wzi\u0119li udzia\u0142 w zje\u017adzie rodziny MDS w Manchesterze.<\/p>\n\n\n\n

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St\u00f3\u0142 DupMECP2 - od lewej do prawej Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

By\u0142a to \u015bwietna okazja dla rodzin os\u00f3b dotkni\u0119tych chorob\u0105 i naukowc\u00f3w do spotkania si\u0119, aby podzieli\u0107 si\u0119 swoimi do\u015bwiadczeniami i us\u0142ysze\u0107 o sposobach poprawy jako\u015bci \u017cycia os\u00f3b dotkni\u0119tych chorob\u0105, aktualizacjach bada\u0144 i perspektywie badania klinicznego Ionis w 2024 roku.<\/p>\n\n\n\n

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

Poni\u017cej znajduje si\u0119 podsumowanie g\u0142\u00f3wnych temat\u00f3w poruszonych podczas prezentacji:<\/p>\n\n\n\n

- Dr Pehlivan przedstawi\u0142 wyniki badania genetycznego, w kt\u00f3rym zidentyfikowano korelacje mi\u0119dzy mutacjami genetycznymi a objawami zespo\u0142u u pacjent\u00f3w. Badanie to stanowi wa\u017cny krok naprz\u00f3d w naszym zrozumieniu tego zespo\u0142u. Obecni mieli r\u00f3wnie\u017c mo\u017cliwo\u015b\u0107 oddania krwi dr Pehlivanowi, aby pom\u00f3c w dalszych badaniach genetycznych. Dr Pehlivan zostawi\u0142 nam prob\u00f3wki na pr\u00f3bki krwi. Je\u015bli chcia\u0142by\u015b wzi\u0105\u0107 udzia\u0142 w jego badaniach, skontaktuj si\u0119 z nami, a my dostarczymy Ci niezb\u0119dne prob\u00f3wki i instrukcje.<\/p>\n\n\n\n

- Dr Christine Coquery z Ionis Pharmaceutical przedstawi\u0142a aktualne informacje na temat projektu MDS z oligonukleotydem antysensownym (ASO) o nazwie ION440. Badanie historii naturalnej (NHS), prowadzone wy\u0142\u0105cznie w USA, rozpocz\u0119\u0142o rekrutacj\u0119 pacjent\u00f3w. Planuje si\u0119, \u017ce badanie kliniczne ION440 odb\u0119dzie si\u0119 w Stanach Zjednoczonych, Kanadzie, Hiszpanii, Wielkiej Brytanii, Francji i Australii, pod warunkiem uzyskania zgody odpowiednich w\u0142adz. W pierwszej fazie ION440 b\u0119dzie podawany w celu oceny bezpiecze\u0144stwa i tolerancji ASO w ma\u0142ej grupie pacjent\u00f3w. Dalsze szczeg\u00f3\u0142y zostan\u0105 podane po zatwierdzeniu protoko\u0142u badania przez organy regulacyjne.<\/p>\n\n\n\n

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Dr Gudrun Gr\u00f6ppel, Caroline i Ana<\/figcaption><\/figure>\n\n\n\n
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Pobieranie pr\u00f3bek krwi 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\n\n

- Specjali\u015bci z Texas Children's Hospital w Houston udzielili cennych porad na temat radzenia sobie z r\u00f3\u017cnymi objawami zwi\u0105zanymi z zespo\u0142em, takimi jak nawracaj\u0105ce infekcje, og\u00f3lne op\u00f3\u017anienia w rozwoju i problemy \u017co\u0142\u0105dkowo-jelitowe.<\/p>\n\n\n\n

- Dr Santosh (King's College, Londyn) przedstawi\u0142 studium przypadku podkre\u015blaj\u0105ce potencja\u0142 sztucznej inteligencji jako u\u017cytecznego narz\u0119dzia do oceny stosunku korzy\u015bci do ryzyka leczenia u m\u0142odych pacjent\u00f3w niewerbalnych, szczeg\u00f3lnie tych z zespo\u0142em Retta.<\/p>\n\n\n\n

- Profesor Huda Zoghbi zamkn\u0119\u0142a konferencj\u0119, wyra\u017caj\u0105c wdzi\u0119czno\u015b\u0107 wszystkim rodzinom, badaczom i darczy\u0144com, kt\u00f3rzy przyczynili si\u0119 do tego projektu i jego post\u0119p\u00f3w w kierunku odkrycia leku. Jej przes\u0142anie nadziei g\u0142\u0119boko rezonuje w spo\u0142eczno\u015bci MDS: \"Jestem bardzo optymistycznie nastawiona do przysz\u0142o\u015bci i jestem bardzo wdzi\u0119czna\".<\/p>\n\n\n\n

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

Pod koniec dnia przedstawiciele stowarzysze\u0144 zebrali si\u0119 na kolacji zorganizowanej przez Ionis. By\u0142 to wyj\u0105tkowy moment, kt\u00f3ry po\u0142\u0105czy\u0142 wszystkich i pozwoli\u0142 nam kontynuowa\u0107 dyskusje przy posi\u0142ku.<\/p>\n\n\n\n

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Kolacja zamykaj\u0105ca<\/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\n\n

Wielkie podzi\u0119kowania dla MECP2 duplication UK za zorganizowanie tego wydarzenia. Prezentacje z tego dnia zosta\u0142y nagrane i wkr\u00f3tce zostan\u0105 udost\u0119pnione z napisami w 13 r\u00f3\u017cnych j\u0119zykach. <\/p>\n\n\n\n

W razie jakichkolwiek pyta\u0144 prosimy o kontakt.<\/p>","protected":false},"excerpt":{"rendered":"

Le 28 Octobre, des membres de notre \u00e9quipe : Ana (membre du conseil d’administration), Caroline (membre du conseil d’administration, vice-pr\u00e9sidente), Jasmin (Ambassadrice en allemagne) et le Dr. Gudrun Gr\u00f6ppel (expert […]<\/p>","protected":false},"author":1,"featured_media":21276,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-21240","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualite"],"yoast_head":"\nR\u00e9sum\u00e9 de la conf\u00e9rence des familles \u00e0 Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"C'\u00e9tait une superbe occasion pour les familles touch\u00e9es et les scientifiques de se r\u00e9unir pour partager leurs exp\u00e9riences et entendre parler des moyens d'am\u00e9liorer la qualit\u00e9 de vie des personnes touch\u00e9es, des mises \u00e0 jour de la recherche et de la perspective de l'essai clinique d'Ionis.\" \/>\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-manchester\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"R\u00e9sum\u00e9 de la conf\u00e9rence des familles \u00e0 Manchester - 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