{"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":"summary-conference-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/de\/summary-conference-manchester\/","title":{"rendered":"Zusammenfassung der MDS-Familienkonferenz in Manchester"},"content":{"rendered":"

Am 28. Oktober nahmen unsere Teammitglieder Ana (Vorstandsmitglied), Caroline (Vorstandsmitglied, Vizepr\u00e4sidentin) und Dr. Gudrun Gr\u00f6ppel (MDS Medical Expert) am MDS-Familientreffen in Manchester teil.<\/p>\n\n\n\n

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DupMECP2 Tabelle - 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, zusammenzukommen, um Erfahrungen auszutauschen und zu h\u00f6ren, wie die Lebensqualit\u00e4t der Betroffenen verbessert werden kann, sowie \u00fcber aktuelle Forschungsergebnisse und einen Ausblick auf Ionis' klinische Studie im Jahr 2024 zu sprechen.<\/p>\n\n\n\n

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Hier sind die wichtigsten Punkte, die w\u00e4hrend der Pr\u00e4sentationen angesprochen wurden:<\/p>\n\n\n\n

- Dr. Pehlivan stellte die Ergebnisse einer genetischen Studie vor, die Zusammenh\u00e4nge zwischen genetischen Mutationen und der Art und Weise, wie sich das Syndrom bei Patienten manifestiert, identifiziert hat. Diese Forschung ist ein entscheidender Schritt vorw\u00e4rts in unserem Verst\u00e4ndnis des Syndroms. Die Zuh\u00f6rer hatten auch die Gelegenheit, Dr. Pehlivan Blutproben zu spenden, um zur weiteren genetischen Forschung beizutragen. Dr. Pehlivan lie\u00df uns mit R\u00f6hrchen f\u00fcr Blutproben zur\u00fcck. Wenn Sie daran interessiert sind, an seiner Forschung teilzunehmen und dazu beizutragen, kontaktieren Sie uns bitte, und wir werden Sie mit den notwendigen R\u00f6hrchen und Richtlinien versorgen.<\/p>\n\n\n\n

- Dr. Christine Coquery von Ionis Pharmaceutical gab ein Update zum MDS-Programm mit dem Antisense-Oligonucleotid (ASO) namens ION440. Die Natural History Study (NHS) wird ausschlie\u00dflich in den USA durchgef\u00fchrt und hat mit der Rekrutierung von Patienten begonnen. Die Interventionsstudie f\u00fcr ION440 ist f\u00fcr die USA, Kanada, Spanien, Gro\u00dfbritannien, Frankreich und Australien geplant, je nachdem, ob die jeweiligen Gesundheitsbeh\u00f6rden ihre Zustimmung erteilen. Mit der Verabreichung von ION440 in einer Anfangsphase sollen die Sicherheit und Vertr\u00e4glichkeit der ASO in einer kleinen Patientengruppe bewertet werden. Weitere Einzelheiten werden bekannt gegeben, sobald das Studienprotokoll von den Beh\u00f6rden genehmigt wurde.<\/p>\n\n\n\n

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Dr. Gudrun Gr\u00f6ppel, Caroline und Ana<\/figcaption><\/figure>\n\n\n\n
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Blutsammlung mit Dr. Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr. Pehlivan, Dr. Coquery, Caroline und Ana<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

- Spezialisten aus dem Texas Children's Hospital in Houston boten wertvolle Anleitungen zur Bew\u00e4ltigung verschiedener syndrombedingter Symptome, wie z. B. die Bew\u00e4ltigung wiederkehrender Infektionen, die Bew\u00e4ltigung globaler Entwicklungsverz\u00f6gerungen und die Bew\u00e4ltigung von Magen-Darm-Problemen.<\/p>\n\n\n\n

- Dr. Santosh (King's College, London) stellte eine Fallstudie vor, die die Macht von AI als n\u00fctzliches Werkzeug zur Bewertung des Nutzen-Risiko-Verh\u00e4ltnisses einer Behandlung bei jungen, nichtverbalen Patienten hervorhebt, wobei der Schwerpunkt auf Rett-Patienten liegt.<\/p>\n\n\n\n

- Prof. Huda Zoghbi schloss das Treffen, indem sie ihre Dankbarkeit gegen\u00fcber allen Familien, Forschern und Spendern zum Ausdruck brachte, die zu diesem Projekt und seinen Fortschritten bei der Suche nach einer Heilung beigetragen haben. Ihre Botschaft der Hoffnung hallt tief in der MDS-Gemeinschaft wider: \"I am very optimistic about the future and very thankful to you.\"<\/p>\n\n\n\n

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Am Ende des Tages kamen die Vertreter der Interessenvertretungen zu einem Abendessen zusammen, das von Ionis ausgerichtet wurde. Dies war ein besonderer Moment, der alle zusammenbrachte und es uns erm\u00f6glichte, unsere wichtigen Diskussionen w\u00e4hrend eines Essens fortzusetzen.<\/p>\n\n\n\n

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Closing dinner<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) und Helen Coles-Harrington (MECP2 duplication UK)<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

Vielen Dank an MECP2 duplication UK, die die Veranstaltung organisiert hat. Aufnahmen aller Pr\u00e4sentationen werden in K\u00fcrze mit Untertiteln in 13 verschiedenen Sprachen ver\u00f6ffentlicht. Vielen Dank an MECP2 duplication UK, die die Veranstaltung organisiert hat. <\/p>\n\n\n\n

Z\u00f6gern Sie nicht, uns zu kontaktieren, wenn Sie irgendwelche Fragen haben.<\/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, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/de\/summary-conference-manchester\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Summary of the MDS family conference in Manchester - 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