{"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":"riassunto-conferenza-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/en\/riassunto-conferenza-manchester\/","title":{"rendered":"Report from the MDS Family Conference in Manchester"},"content":{"rendered":"

The MDS family meeting was held in Manchester at the end of last week, and several members of our team took part: Ana (board member), Caroline (board member and vice-president) and Dr. Gundrun Gr\u00f6ppel (MDS medical expert). Gundrun Gr\u00f6ppel (MDS medical expert).<\/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

E' stata un'opportunit\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 previsti per il 2024.<\/p>\n\n

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This is a summary of the main arguments discussed during the presentation:<\/p>\n\n

- Dott. Pehlivan presented the results of a genetic study which identified the correlation between genetic mutation and the manifestation of the syndrome in patients. This study represents a crucial step forward in our understanding of the disease. I partecipanti hanno anche avuto l'opportunit\u00e0 di donare campioni di sangue al Dott. Pehlivan to contribute to future genetic research. Il Dott. Pehlivan ha inoltre consegnato provette per i campioni di sangue. If you are interested in participating and contributing to the research, please contact us. We will send you the test kits with the relevant instructions.<\/p>\n\n

- Dott.ssa Christine Coquery of Ionis Pharmaceutical has fornito un aggiornamento sul loro programma di ricerca sull'MDS con l'ASO ION440. Il reclutamento dei pazienti per lo studio sulla storia naturale (NHS) \u00e8 iniziato negli Stati Uniti. Lo studio clinico verr\u00e0 condotto in Canada, Spagna, Regno Unito, Francia e Australia e negli Stati Uniti in base all'approvazione delle rispettive autorit\u00e0 sanitarie. Inizialmente la somministrazione di ION440 avr\u00e0 lo scopo di valutare la sicurezza e la tollerabilit\u00e0 di ION440 in un piccolo gruppo di pazienti. Further details will be provided when the study protocol has been approved by the authorities.<\/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 con il Dr. 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

Specialists from the Texas Children's Hospital in Houston have offered valuable advice on how to deal with the typical symptoms of the syndrome, such as recurrent infections, developmental problems and gastrointestinal disturbances.<\/p>\n\n

- Il Dott. Santosh (King's College, Londra) presented a case study which highlighted the potential of AI as a useful tool for assessing the relationship between benefits and risks in the treatment of young patients who are not able to speak, with a particular focus on patients suffering from Rett syndrome.<\/p>\n\n

- Professor Huda Zoghbi closed the meeting by expressing her gratitude to all the families, researchers and supporters who have contributed to this project and its progress towards a cure. Her message of hope has deeply touched the hearts of the MDS community: \"Sono molto ottimista per il futuro e molto grata a tutti voi.\"<\/p>\n\n

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

At the end of the working day, the representatives of the associations present met for a meal sponsored by Ionis. It was a special moment that brought everyone together, giving them the opportunity to continue the important discussions during the meal.<\/p>\n\n

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Cena di chiusura con Ionis<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) and Helen Coles-Harrington (MECP2 duplication UK)<\/figcaption><\/figure>\n<\/figure>\n\n

Grazie di cuore a \"MECP2 duplication UK\" che ha organizato l'evento. La registrazione di tutte le presentazioni sottotitolate in 13 lingues diverse saranno presto condivise. Se avete domande, non esitate a contattarci.<\/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\/en\/riassunto-conferenza-manchester\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\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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