{"id":42624,"date":"2021-01-23T11:19:35","date_gmt":"2021-01-23T17:19:35","guid":{"rendered":"https:\/\/www.erdheim-chester.org\/?p=42624"},"modified":"2026-10-08T16:19:16","modified_gmt":"2026-10-08T21:19:16","slug":"premio-2021-genetic-landscape-de-erdheim-y-chester","status":"publish","type":"post","link":"https:\/\/www.erdheim-chester.org\/es\/award-2021-genetic-landscape-erdheim-chester\/","title":{"rendered":"An\u00e1lisis del panorama gen\u00e9tico de la enfermedad de Erdheim-Chester mediante la integraci\u00f3n de datos de estudios de asociaci\u00f3n del genoma completo (GWAS) y datos \u00f3micos"},"content":{"rendered":"[et_pb_section global_module=\"47647\"][\/et_pb_section]\n<h4><strong>Year Awarded:<\/strong> 2021<br \/>\n<strong>Amount:<\/strong>\u00a0 50,000 USD<\/h4>\n<p>The ECD Global Alliance has awarded the 2021 ECD Research Grant to Dr. Francesco Pegoraro, with Meyer University Children\u2019s Hospital, Florence, Italy. The winning proposal,\u00a0<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>, was selected for funding for $50,000. The ECDGA is honored to be funding this groundbreaking work and believes it will result in a brighter future for ECD patients and a better understanding of histiocytosis. View Press Release<\/p>\n<h3><strong>Interim Report<\/strong><\/h3>\n<p>The project entitled \u201cExploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data\u201d was designed to investigate the genetic predisposition to ECD by performing methylation and gene expression studies. The genome-wide association study on ECD, whose results have been presented at the 2023 ECDGA meeting and are currently submitted for publication, identified a genetic variant (SETBP1) associated with ECD predisposition. We are now analyzing methylome and gene expression from patients to better understand the role of SETBP1 in disease pathogenesis. The same analyses will be performed on the most important cell type in ECD (monocytes), and, to complete this task, we are currently performing sampling and monocyte extraction from patients with ECD. These samples will be then shipped to Prof. Martin\u2019s lab where the genetic analyses will be performed.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El Dr. Francesco Pegoraro, del Hospital Infantil Universitario Meyer de Florencia (Italia), recibe una subvenci\u00f3n de $50 000 de la Alianza Global ECD para investigar el panorama gen\u00e9tico de la enfermedad de Erdheim-Chester. Esta investigaci\u00f3n pionera ha identificado una variante gen\u00e9tica (SETBP1) asociada a la predisposici\u00f3n a la ECD y contin\u00faa investigando su papel en la patog\u00e9nesis de la enfermedad mediante an\u00e1lisis gen\u00e9ticos y moleculares exhaustivos.<\/p>","protected":false},"author":20,"featured_media":92333,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","cybocfi_hide_featured_image":"","wds_primary_category":0,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[306],"tags":[336],"class_list":["post-42624","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-past-awards","tag-336"],"_links":{"self":[{"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/posts\/42624","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/users\/20"}],"replies":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/comments?post=42624"}],"version-history":[{"count":1,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/posts\/42624\/revisions"}],"predecessor-version":[{"id":176425,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/posts\/42624\/revisions\/176425"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/media\/92333"}],"wp:attachment":[{"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/media?parent=42624"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/categories?post=42624"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/es\/wp-json\/wp\/v2\/tags?post=42624"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}