{"id":68005,"date":"2021-01-23T11:19:35","date_gmt":"2021-01-23T17:19:35","guid":{"rendered":"https:\/\/www.erdheim-chester.org\/exploration-du-paysage-genetique-des-erdheim-chester-maladie-en-integrant-les-donnees-gwas-et-omiques\/"},"modified":"2025-09-11T09:46:50","modified_gmt":"2025-09-11T14:46:50","slug":"exploration-du-paysage-genetique-des-erdheim-chester-maladie-en-integrant-les-donnees-gwas-et-omiques","status":"publish","type":"post","link":"https:\/\/www.erdheim-chester.org\/fr\/exploration-du-paysage-genetique-des-erdheim-chester-maladie-en-integrant-les-donnees-gwas-et-omiques\/","title":{"rendered":"Exploration du paysage g\u00e9n\u00e9tique des Erdheim-Chester maladie en int\u00e9grant les donn\u00e9es GWAS et -omiques"},"content":{"rendered":"[et_pb_section global_module=\"47647\"][\/et_pb_section]\n<h4><strong>Ann\u00e9e d&rsquo;attribution :<\/strong> 2021<br \/>\n<strong>Montant :<\/strong> 50 000 USD<\/h4>\n<p>L&rsquo;Alliance mondiale ECD a attribu\u00e9 la bourse de recherche 2021 ECD au Dr Francesco Pegoraro, de l&rsquo;h\u00f4pital universitaire pour enfants Meyer, \u00e0 Florence, en Italie. La proposition gagnante, <a href=\"https:\/\/www.erdheim-chester.org\/wp-content\/uploads\/2022\/01\/2022.01-F.-Pegoraro-Grant-PR.pdf\" target=\"_blank\" rel=\"noopener\" aria-label=\"Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data - opens in new tab - opens in new tab\">Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data<\/a>, a \u00e9t\u00e9 s\u00e9lectionn\u00e9e pour un financement de 50 000 dollars. Le site ECDGA est honor\u00e9 de financer ces travaux novateurs et pense qu&rsquo;ils permettront d&rsquo;am\u00e9liorer l&rsquo;avenir des patients de ECD et de mieux comprendre l&rsquo;histiocytose.   Voir le communiqu\u00e9 de presse<\/p>\n<h3><strong>Rapport interm\u00e9diaire<\/strong><\/h3>\n<p>Le projet intitul\u00e9 \u00ab Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data \u00bb a \u00e9t\u00e9 con\u00e7u pour \u00e9tudier la pr\u00e9disposition g\u00e9n\u00e9tique \u00e0 ECD en r\u00e9alisant des \u00e9tudes de m\u00e9thylation et d&rsquo;expression g\u00e9nique. L \u00ab \u00e9tude d&rsquo;association \u00e0 l \u00bb \u00e9chelle du g\u00e9nome sur ECD, dont les r\u00e9sultats ont \u00e9t\u00e9 pr\u00e9sent\u00e9s \u00e0 la r\u00e9union 2023 ECDGA et sont actuellement soumis pour publication, a identifi\u00e9 une variante g\u00e9n\u00e9tique (SETBP1) associ\u00e9e \u00e0 la pr\u00e9disposition ECD.  Nous analysons actuellement le m\u00e9thylome et l&rsquo;expression g\u00e9n\u00e9tique des patients afin de mieux comprendre le r\u00f4le de SETBP1 dans la pathogen\u00e8se de la maladie. Les m\u00eames analyses seront effectu\u00e9es sur le type de cellule le plus important dans ECD (les monocytes) et, pour mener \u00e0 bien cette t\u00e2che, nous proc\u00e9dons actuellement au pr\u00e9l\u00e8vement et \u00e0 l&rsquo;extraction de monocytes chez des patients atteints de ECD. Ces \u00e9chantillons seront ensuite envoy\u00e9s au laboratoire du professeur Martin o\u00f9 les analyses g\u00e9n\u00e9tiques seront effectu\u00e9es.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le Dr Francesco Pegoraro de l&rsquo;h\u00f4pital universitaire pour enfants Meyer de Florence, en Italie, re\u00e7oit une bourse de 50 000 dollars de l&rsquo;Alliance mondiale ECD pour explorer le paysage g\u00e9n\u00e9tique de la maladie d&rsquo;Alzheimer. Erdheim-Chester maladie. Cette recherche novatrice a permis d&rsquo;identifier une variante g\u00e9n\u00e9tique (SETBP1) associ\u00e9e \u00e0 la pr\u00e9disposition ECD et continue d&rsquo;\u00e9tudier son r\u00f4le dans la pathogen\u00e8se de la maladie par le biais d&rsquo;analyses g\u00e9n\u00e9tiques et mol\u00e9culaires compl\u00e8tes. <\/p>\n","protected":false},"author":20,"featured_media":92336,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","_wds_title":"","_wds_metadesc":"","_wds_focus-keywords":"","_wds_meta-robots-adv":"","_wds_meta-robots-noindex":false,"_wds_meta-robots-nofollow":false,"_wds_meta-robots-index":false,"_wds_meta-robots-follow":false,"_wds_autolinks-exclude":false,"_wds_canonical":"","_wds_redirect":"","_wds_opengraph":[],"_wds_twitter":[],"cybocfi_hide_featured_image":"","wds_primary_category":0,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[612],"tags":[666],"class_list":["post-68005","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recompenses-passees","tag-2021-fr"],"_links":{"self":[{"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/posts\/68005","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/users\/20"}],"replies":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/comments?post=68005"}],"version-history":[{"count":0,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/posts\/68005\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/media\/92336"}],"wp:attachment":[{"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/media?parent=68005"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/categories?post=68005"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/fr\/wp-json\/wp\/v2\/tags?post=68005"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}