{"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\/pl\/summary-conference-manchester\/","title":{"rendered":"Podsumowanie konferencji rodzinnej MDS w Manchesterze"},"content":{"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 Manchester.<\/p>\n\n\n\n

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DupMECP2 table – from left to right Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

It 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 in 2024.<\/p>\n\n\n\n

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

Here are the key points addressed during the presentations:<\/p>\n\n\n\n

– Dr. Pehlivan presented the results of a genetic study that identified correlations between genetic mutations and how the syndrome manifests in patients. This research is a crucial step forward in our understanding of this syndrome. Attendees also had the opportunity to give blood samples to Dr. Pehlivan to contribute to further genetic research. Dr. Pehlivan left us with tubes for blood samples. If you’re interested in participating and contributing to his research, please contact us, and we’ll supply you with the necessary tubes and guidelines.<\/p>\n\n\n\n

– Dr. Christine Coquery from Ionis Pharmaceutical gave an update on the MDS program with the antisense oligonucleotide (ASO) called ION440. The natural history study (NHS) will be conducted in the US exclusively and has started recruiting patients. The interventional trial for ION440 is planned for the US, Canada, Spain, UK, France, and Australia, depending on approval from respective health authorities. The administration of ION440 in an initial phase will aim to assess the safety and tolerability of the ASO in a small group of patients. More details will be provided once the study protocol received approval from the authorities.<\/p>\n\n\n\n

\n
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Dr. Gudrun Gr\u00f6ppel, Caroline and Ana<\/figcaption><\/figure>\n\n\n\n
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Blood sampling with Dr. Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr. Pehlivan, Dr. Coquery, Caroline and Ana<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

– Specialists from Texas Children’s Hospital in Houston offered valuable guidance on addressing various syndrome-related symptoms such as managing recurring infections, addressing global developmental delays, and tackling gastrointestinal issues.<\/p>\n\n\n\n

– Dr. Santosh (King\u2019s College, London) presented a case study highlighting the power of AI as a useful tool for assessing the benefit-risk ratio of a treatment in young, non-verbal patients, with a focus on Rett patients.<\/p>\n\n\n\n

– Prof. Huda Zoghbi closed the meeting by expressing her gratitude to all the families, researchers, and donors who have contributed to this project and its progress toward finding a cure. Her message of hope resonates deeply within the MDS community: \u00ab\u00a0I am very optimistic about the future and very thankful to you.\u00a0\u00bb<\/p>\n\n\n\n

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

At the end of the day, representatives of the advocacy groups came together for a dinner hosted by Ionis. This was a special moment that brought everyone together, allowing us to continue our important discussions over a meal.<\/p>\n\n\n\n

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Closing dinner<\/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\n\n

Many thanks to MECP2 duplication UK who organized the event. Recordings of all presentations will be shared shortly with subtitles in 13 different languages. Many thanks to MECP2 duplication UK who organized the event. <\/p>\n\n\n\n

Don’t hesitate to contact us if you have any questions.<\/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\/pl\/summary-conference-manchester\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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