{"id":23611,"date":"2025-11-21T10:04:57","date_gmt":"2025-11-21T09:04:57","guid":{"rendered":"https:\/\/elainternational.eu\/?post_type=news_research&p=23611"},"modified":"2025-11-21T10:34:05","modified_gmt":"2025-11-21T09:34:05","slug":"part-of-the-bigger-picture-studying-the-effect-of-gfap-mutations-on-brain-development","status":"publish","type":"news_research","link":"https:\/\/elainternational.eu\/en\/actualites_recherche\/part-of-the-bigger-picture-studying-the-effect-of-gfap-mutations-on-brain-development\/","title":{"rendered":"Part of the bigger picture: studying the effect of GFAP mutations on brain development"},"content":{"rendered":"\n\n
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Part of the bigger picture: studying the effect of GFAP<\/em> mutations on brain development<\/h1>\n <\/div>\n <\/div>\n<\/section>\n\n\n
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Charlotte van Gelder, UMC Utrecht \/ ELA 2025-029F4<\/em><\/p>\n <\/div>\n<\/section>\n\n\n\n\n\n

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Project abstract<\/strong><\/h5>\n <\/div>\n
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Our brains consist of many different types of cells. Each cell has its own function, which is executed by proteins. Alexander disease (AxD) is a rare brain disease, caused by an error in the gene encoding the protein GFAP. This protein is mostly present in a specific cell type called astrocytes. Faulty GFAP protein accumulates and aggregates, resulting in malfunction and finally loss of brain tissue. It is still unclear how the faulty protein results in brain damage. To develop new therapies for AxD, which is currently incurable, we need to discover the order of events that lead to faulty protein functioning.<\/p>\n

In this project, we will use single cell proteomics \u2013 the global analysis of proteins in individual cells \u2013 to study how proteins in different cell types are affected during the development of AxD. We will use lab-grown mini-brains, called organoids, from AxD patients and compare how these develop over time compared to mini-brains in which the mutation in GFAP<\/em> is corrected. This will enhance our understanding of how AxD originates and how we can potentially intervene.<\/p>\n <\/div>\n <\/div>\n<\/section>","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":0,"template":"","news_research_categories":[127],"news_research_tags":[119],"class_list":["post-23611","news_research","type-news_research","status-publish","hentry","news_research_categories-project","news_research_tags-alexander-disease"],"acf":[],"yoast_head":"\nPart of the bigger picture: studying the effect of GFAP mutations on brain development - ELA International<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/elainternational.eu\/en\/actualites_recherche\/part-of-the-bigger-picture-studying-the-effect-of-gfap-mutations-on-brain-development\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Part of the bigger picture: studying the effect of GFAP mutations on brain development - 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