{"id":19190,"date":"2023-10-09T11:32:47","date_gmt":"2023-10-09T15:32:47","guid":{"rendered":"https:\/\/arsacs.com\/?p=19190"},"modified":"2024-08-31T14:29:24","modified_gmt":"2024-08-31T18:29:24","slug":"discovery-of-new-arsacs-modifier-genes-in-the-saguenay-founder-population-dr-simon-girard","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/discovery-of-new-arsacs-modifier-genes-in-the-saguenay-founder-population-dr-simon-girard\/","title":{"rendered":"\u201cDiscovery of new ARSACS modifier genes in the Saguenay founder population\u201d &#8211; Dr Simon Girard"},"content":{"rendered":"\n<p>L\u2019Ataxie R\u00e9cessive Spastique Autosomique de Charlevoix-Saguenay (ARSACS) est une maladie neurologique rare et invalidante. On la retrouve avec des pr\u00e9valences beaucoup plus \u00e9lev\u00e9s dans plusieurs r\u00e9gions du monde, notamment au Saguenay-Lac-St-Jean. Cette pr\u00e9valence \u00e9lev\u00e9e s\u2019explique par un fort effet fondateur ; en effet, plus de 90% des patients ARSACS porte la m\u00eame mutation qui provient d\u2019un groupe d\u2019anc\u00eatres commun. Malgr\u00e9 cela, les sympt\u00f4mes ne sont pas les m\u00eame pour tout le monde, ce qui nous fait penser que d\u2019autres facteurs g\u00e9n\u00e9tiques pourraient influencer la progression de la maladie. Gr\u00e2ce \u00e0 une connaissance profonde de la g\u00e9n\u00e9alogie de chacun des participants, nous serons en mesure de lier tous les patients ARSACS au sein d\u2019un grand arbre g\u00e9n\u00e9alogique. Notre projet a trois objectifs : 1) analyse du g\u00e9nome de patients ARSACS pour lesquels nous avons une caract\u00e9risation clinique d\u00e9taill\u00e9e, 2)reconstruction g\u00e9n\u00e9alogique compl\u00e8te de patients ARSACS et de leurs familles et 3)Mise en relation des donn\u00e9es pour identifier de nouvelles r\u00e9gions du g\u00e9nome li\u00e9es \u00e0 la maladie. Cette \u00e9tude nous permettra de mieux comprendre les m\u00e9canisme g\u00e9n\u00e9tiques et cellulaires qui causent la maladie et pourrait \u00e9ventuellement mener \u00e0 de nouveaux traitements pour mieux aider les patients et leurs familles.&nbsp;<\/p>\n\n\n\n<p>Financement : 100 000$<\/p>\n\n\n\n<p>Dur\u00e9e : un an<\/p>\n\n\n\n<p>Coordonn\u00e9es:<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"400\" src=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard-.jpg\" alt=\"\" class=\"wp-image-19241\" srcset=\"https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard-.jpg 300w, https:\/\/arsacs.com\/wp-content\/uploads\/2023\/10\/Simon-Girard--225x300.jpg 225w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/figure>\n\n\n\n<p><\/p>\n\n\n\n<p class=\"has-text-align-left\">Dr Simon Girard<\/p>\n\n\n\n<p>Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi <\/p>\n\n\n\n<p>555 boul. Universit\u00e9<br>Chicoutimi, QC G7H 2B1<\/p>\n\n\n\n<p>simon2_girard@uqac.ca <\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>L\u2019Ataxie R\u00e9cessive Spastique Autosomique de Charlevoix-Saguenay (ARSACS) est une maladie neurologique rare et invalidante. On la retrouve avec des pr\u00e9valences beaucoup plus \u00e9lev\u00e9s dans plusieurs r\u00e9gions du monde, notamment au Saguenay-Lac-St-Jean. Cette pr\u00e9valence \u00e9lev\u00e9e s\u2019explique par un fort effet fondateur ; en effet, plus de 90% des patients ARSACS porte la m\u00eame mutation qui provient [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"categories":[89],"tags":[],"class_list":["post-19190","post","type-post","status-publish","format-standard","hentry","category-recherche-2023"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>\u201cDiscovery of new ARSACS modifier genes in the Saguenay founder population\u201d - Dr Simon Girard - ARSACS<\/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:\/\/arsacs.com\/fr\/discovery-of-new-arsacs-modifier-genes-in-the-saguenay-founder-population-dr-simon-girard\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u201cDiscovery of new ARSACS modifier genes in the Saguenay founder population\u201d - Dr Simon Girard - ARSACS\" \/>\n<meta property=\"og:description\" content=\"L\u2019Ataxie R\u00e9cessive Spastique Autosomique de Charlevoix-Saguenay (ARSACS) est une maladie neurologique rare et invalidante. 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