{"id":26869,"date":"2026-09-11T09:34:44","date_gmt":"2026-09-11T13:34:44","guid":{"rendered":"https:\/\/arsacs.com\/?p=26869"},"modified":"2026-09-11T09:36:11","modified_gmt":"2026-09-11T13:36:11","slug":"identification-des-modificateurs-genetiques-susceptibles-dinfluencer-les-symptomes-de-larsac-dr-girard","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/identifying-genetic-modifiers-that-may-influence-arsacs-symptoms-dr-girard\/","title":{"rendered":"Identification des modificateurs g\u00e9n\u00e9tiques susceptibles d\u2019influencer les sympt\u00f4mes de l\u2019ARSACS \u2013 Dr Girard"},"content":{"rendered":"<p>On observe une variabilit\u00e9 des sympt\u00f4mes chez les patients atteints d\u2019ARSACS, ce qui sugg\u00e8re que des g\u00e8nes modificateurs pourraient \u00eatre impliqu\u00e9s, m\u00eame chez les patients de la r\u00e9gion du SLSJ, et que les variations g\u00e9n\u00e9tiques agissent rarement seules. L\u2019\u00e9quipe a d\u00e9j\u00e0 utilis\u00e9 des donn\u00e9es de g\u00e9notypage et des donn\u00e9es g\u00e9n\u00e9alogiques pour confirmer un haplotype fondateur. Hypoth\u00e8se : des g\u00e8nes modificateurs, au-del\u00e0 de la variante SACS connue, sont \u00e9galement communs aux patients. Hypoth\u00e8se : les g\u00e8nes modificateurs pourraient ne pas suivre strictement le m\u00eame sch\u00e9ma que celui observ\u00e9 pour la variante primaire de l\u2019ARSACS, mais pourraient plut\u00f4t se s\u00e9parer au sein de sous-groupes d\u2019individus apparent\u00e9s. L\u2019\u00e9quipe va d\u00e9sormais utiliser des r\u00e9gions d\u2019IBD plut\u00f4t que des SNP issus d\u2019\u00e9tudes GWAS afin d\u2019identifier des associations causales avec l\u2019ARSACS.<\/p>\n<p>Subvention : $98,314<br \/>\n<strong>Ce projet est cofinanc\u00e9 par le Fonds fiduciaire Richardson, qui apporte une contribution de $50 000.<\/strong><br data-start=\"847\" data-end=\"850\" \/>Dur\u00e9e : un an<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-19244 alignleft\" src=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard--225x300.jpg\" alt=\"\" width=\"225\" height=\"300\" srcset=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard--225x300.jpg 225w, https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard-.jpg 300w\" sizes=\"(max-width: 225px) 100vw, 225px\" \/><strong data-start=\"929\" data-end=\"948\">Dr Simon Girard<\/strong><br data-start=\"948\" data-end=\"951\" \/>Professeur<br data-start=\"960\" data-end=\"963\" \/>Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi<br data-start=\"996\" data-end=\"999\" \/>555, boulevard de l'Universit\u00e9<br data-start=\"1019\" data-end=\"1022\" \/>Chicoutimi, Qu\u00e9bec G7H 2G1<br data-start=\"1048\" data-end=\"1051\" \/>Contact : <strong data-start=\"1060\" data-end=\"1085\"><a class=\"decorated-link cursor-pointer\" rel=\"noopener\" data-start=\"1062\" data-end=\"1083\">simon2_girard@uqac.ca<\/a><\/strong><\/p>","protected":false},"excerpt":{"rendered":"<p>Ce projet porte sur les modificateurs g\u00e9n\u00e9tiques susceptibles d'expliquer les diff\u00e9rences de sympt\u00f4mes observ\u00e9es chez les personnes atteintes du syndrome d'ARSACS.<\/p>","protected":false},"author":9,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[34],"tags":[],"class_list":["post-26869","post","type-post","status-publish","format-standard","hentry","category-current"],"_links":{"self":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/26869","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/comments?post=26869"}],"version-history":[{"count":8,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/26869\/revisions"}],"predecessor-version":[{"id":26992,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/26869\/revisions\/26992"}],"wp:attachment":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/media?parent=26869"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/categories?post=26869"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/tags?post=26869"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}