{"id":21284,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/summary-of-the-mds-family-conference-in-manchester\/"},"modified":"2023-11-12T14:12:22","modified_gmt":"2023-11-12T14:12:22","slug":"podsumowanie-konferencji-w-manchesterze","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/pl\/podsumowanie-konferencji-w-manchesterze\/","title":{"rendered":"Podsumowanie konferencji rodzinnej MDS w Manchesterze"},"content":{"rendered":"

28 pa\u017adziernika cz\u0142onkowie naszego zespo\u0142u: Ana (cz\u0142onkini zarz\u0105du), Caroline (cz\u0142onkini zarz\u0105du, wiceprezeska) oraz dr Gudrun Gr\u00f6ppel (ekspertka medyczna MDS) wzi\u0119li udzia\u0142 w spotkaniu rodzinnym MDS w Manchesterze.<\/p>\n\n\n\n

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Tabela DupMECP2 \u2013 od lewej do prawej: Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

By\u0142a to wspania\u0142a okazja dla rodzin os\u00f3b dotkni\u0119tych chorob\u0105 oraz naukowc\u00f3w, by spotka\u0107 si\u0119, podzieli\u0107 do\u015bwiadczeniami i zapozna\u0107 si\u0119 z pomys\u0142ami na popraw\u0119 jako\u015bci \u017cycia os\u00f3b dotkni\u0119tych chorob\u0105, najnowszymi wynikami bada\u0144 oraz perspektywami dotycz\u0105cymi badania klinicznego firmy Ionis w 2024 roku.<\/p>\n\n\n\n

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

Oto najwa\u017cniejsze kwestie poruszone podczas prezentacji:<\/p>\n\n\n\n

\u2013 Dr Pehlivan przedstawi\u0142 wyniki bada\u0144 genetycznych, w kt\u00f3rych zidentyfikowano powi\u0105zania mi\u0119dzy mutacjami genetycznymi a sposobem, w jaki zesp\u00f3\u0142 ten objawia si\u0119 u pacjent\u00f3w. Badania te stanowi\u0105 kluczowy krok naprz\u00f3d w naszym zrozumieniu tego zespo\u0142u. Uczestnicy mieli r\u00f3wnie\u017c okazj\u0119 przekaza\u0107 dr. Pehlivanowi pr\u00f3bki krwi, aby wesprze\u0107 dalsze badania genetyczne. Dr Pehlivan pozostawi\u0142 nam prob\u00f3wki do pobierania pr\u00f3bek krwi. Je\u015bli s\u0105 Pa\u0144stwo zainteresowani udzia\u0142em w tych badaniach i wsparciem jego pracy, prosimy o kontakt, a my dostarczymy Pa\u0144stwu niezb\u0119dne prob\u00f3wki oraz wytyczne.<\/p>\n\n\n\n

\u2013 Dr Christine Coquery z firmy Ionis Pharmaceutical przedstawi\u0142a aktualne informacje na temat programu dotycz\u0105cego MDS z wykorzystaniem oligonukleotydu antysensownego (ASO) o nazwie ION440. Badanie przebiegu naturalnej historii choroby (NHS) b\u0119dzie prowadzone wy\u0142\u0105cznie w Stanach Zjednoczonych, a rekrutacja pacjent\u00f3w ju\u017c si\u0119 rozpocz\u0119\u0142a. Badanie interwencyjne dotycz\u0105ce preparatu ION440 planowane jest w Stanach Zjednoczonych, Kanadzie, Hiszpanii, Wielkiej Brytanii, Francji i Australii, w zale\u017cno\u015bci od uzyskania zgody odpowiednich organ\u00f3w ds. zdrowia. Podawanie preparatu ION440 w pocz\u0105tkowej fazie b\u0119dzie mia\u0142o na celu ocen\u0119 bezpiecze\u0144stwa i tolerancji ASO w niewielkiej grupie pacjent\u00f3w. Wi\u0119cej szczeg\u00f3\u0142\u00f3w zostanie podanych po zatwierdzeniu protoko\u0142u badania przez odpowiednie organy.<\/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 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

\u2013 Specjali\u015bci ze szpitala Texas Children\u2019s Hospital w Houston udzielili cennych wskaz\u00f3wek dotycz\u0105cych post\u0119powania w przypadku r\u00f3\u017cnych objaw\u00f3w zwi\u0105zanych z zespo\u0142em, takich jak leczenie nawracaj\u0105cych infekcji, radzenie sobie z og\u00f3lnymi op\u00f3\u017anieniami rozwojowymi oraz rozwi\u0105zywanie problem\u00f3w \u017co\u0142\u0105dkowo-jelitowych.<\/p>\n\n\n\n

\u2013 Dr Santosh (King\u2019s College w Londynie) przedstawi\u0142 studium przypadku, w kt\u00f3rym podkre\u015bli\u0142 potencja\u0142 sztucznej inteligencji jako u\u017cytecznego narz\u0119dzia do oceny stosunku korzy\u015bci do ryzyka danego leczenia u m\u0142odych pacjent\u00f3w niepos\u0142uguj\u0105cych si\u0119 mow\u0105, ze szczeg\u00f3lnym uwzgl\u0119dnieniem pacjent\u00f3w z zespo\u0142em Retta.<\/p>\n\n\n\n

\u2013 Prof. Huda Zoghbi zako\u0144czy\u0142a spotkanie, wyra\u017caj\u0105c wdzi\u0119czno\u015b\u0107 wszystkim rodzinom, naukowcom i darczy\u0144com, kt\u00f3rzy przyczynili si\u0119 do realizacji tego projektu i post\u0119p\u00f3w w poszukiwaniu lekarstwa. Jej przes\u0142anie nadziei g\u0142\u0119boko rezonuje w spo\u0142eczno\u015bci os\u00f3b dotkni\u0119tych MDS: \u201eJestem bardzo optymistyczna co do przysz\u0142o\u015bci i bardzo wam wdzi\u0119czna\u201d.<\/p>\n\n\n\n

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

Pod koniec dnia przedstawiciele organizacji spo\u0142ecznych zebrali si\u0119 na kolacji zorganizowanej przez firm\u0119 Ionis. By\u0142a to wyj\u0105tkowa chwila, kt\u00f3ra zjednoczy\u0142a wszystkich i pozwoli\u0142a nam kontynuowa\u0107 nasze wa\u017cne rozmowy przy posi\u0142ku.<\/p>\n\n\n\n

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Kolacja po\u017cegnalna<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) i Helen Coles-Harrington (MECP2 duplication UK)<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

Serdeczne podzi\u0119kowania dla organizacji MECP2 duplication UK, kt\u00f3ra zorganizowa\u0142a to wydarzenie. Nagrania wszystkich prezentacji zostan\u0105 wkr\u00f3tce udost\u0119pnione wraz z napisami w 13 r\u00f3\u017cnych j\u0119zykach. Serdeczne podzi\u0119kowania dla organizacji MECP2 duplication UK, kt\u00f3ra zorganizowa\u0142a to wydarzenie. <\/p>\n\n\n\n

Je\u015bli masz jakie\u015b pytania, nie wahaj si\u0119 z nami skontaktowa\u0107.<\/p>","protected":false},"excerpt":{"rendered":"

On the 28th of October, members of our team: Ana (board member), Caroline (board member, vice president) and Dr. Gudrun Gr\u00f6ppel (MDS Medical expert) attended the MDS family meeting in […]<\/p>","protected":false},"author":1,"featured_media":21277,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[87],"tags":[],"class_list":["post-21284","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"\nSummary of the MDS family conference in Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"The conference was a fantastic opportunity for affected families and scientists to come together to share experiences and listen about ways to enhance the quality of life of affected people, research updates and perspective on Ionis\u2019 clinical trial.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, 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