{"id":52192,"date":"2025-10-20T14:26:04","date_gmt":"2025-10-20T18:26:04","guid":{"rendered":"https:\/\/www.uqac.ca\/uqactualites\/?p=52192"},"modified":"2025-10-20T14:38:12","modified_gmt":"2025-10-20T18:38:12","slug":"une-etude-du-professeur-simon-girard-mene-a-dimportantes-decouvertes-sur-le-patrimoine-genetique-du-saguenay-lac-saint-jean","status":"publish","type":"post","link":"https:\/\/www.uqac.ca\/uqactualites\/2025\/10\/20\/une-etude-du-professeur-simon-girard-mene-a-dimportantes-decouvertes-sur-le-patrimoine-genetique-du-saguenay-lac-saint-jean\/","title":{"rendered":"Une \u00e9tude du professeur Simon Girard m\u00e8ne \u00e0 d\u2019importantes d\u00e9couvertes sur le patrimoine g\u00e9n\u00e9tique du Saguenay\u2013Lac-Saint-Jean"},"content":{"rendered":"<p>Le professeur de l\u2019UQAC <strong><a href=\"https:\/\/genopop.ca\/simon-girard\/\" target=\"_blank\" rel=\"noopener\">Simon Girard<\/a><\/strong>, sp\u00e9cialiste en g\u00e9nomique et bioinformatique et chercheur r\u00e9gulier au CIUSSS du Saguenay\u2212Lac-Saint-Jean, a men\u00e9 une \u00e9tude ayant abouti \u00e0 des retomb\u00e9es scientifiques significatives sur la compr\u00e9hension des maladies g\u00e9n\u00e9tiques pr\u00e9sentes dans la r\u00e9gion.<\/p>\n<p>Publi\u00e9e r\u00e9cemment dans le journal <em>PLOS Genetics<\/em>, cette recherche intitul\u00e9e <a href=\"https:\/\/journals.plos.org\/plosgenetics\/article?id=10.1371\/journal.pgen.1011876\" target=\"_blank\" rel=\"noopener\"><em><strong>Rare diseases load through the study of a regional population<\/strong><\/em><\/a> a permis d\u2019identifier un grand nombre de personnes porteuses de g\u00e8nes responsables de maladies rares dans la r\u00e9gion. Parmi toutes les maladies identifi\u00e9es, seulement la moiti\u00e9 \u00e9tait d\u00e9j\u00e0 bien connue et r\u00e9pertori\u00e9e.<\/p>\n<p>L\u2019\u00e9tude a \u00e9galement permis d\u2019\u00e9valuer le fardeau g\u00e9n\u00e9tique li\u00e9 \u00e0 l\u2019effet fondateur sp\u00e9cifique au contexte de peuplement de la r\u00e9gion. Les r\u00e9sultats sont frappants : deux personnes sur trois au Saguenay\u2013Lac-Saint-Jean sont porteuses d\u2019un g\u00e8ne associ\u00e9 \u00e0 une maladie rare \u2014 un taux bien plus \u00e9lev\u00e9 que ce qui avait \u00e9t\u00e9 estim\u00e9 auparavant.<\/p>\n<blockquote class=\"td_quote_box td_box_center\">\n<h6><span class=\"TextRun SCXW167363474 BCX0\" lang=\"FR-CA\" xml:lang=\"FR-CA\" data-contrast=\"auto\"><span class=\"NormalTextRun SCXW167363474 BCX0\"><em>\u00ab Notre \u00e9tude part d\u2019une id\u00e9e un peu loufoque : \u00e9tudier les maladies rares via des gens en sant\u00e9. On se doutait qu\u2019il y avait des maladies rares qui nous \u00e9taient encore inconnues, mais je n\u2019aurais jamais pens\u00e9 qu\u2019il y en aurait autant! \u00c7a d\u00e9montre la pertinence de notre \u00e9tude. Et cela nous a permis de dresser un portrait complet des maladies rares \u00e0 effet fondateur pr\u00e9sentes sur notre territoire. \u00bb<\/em><\/span><\/span><\/h6>\n<p style=\"text-align: center;\">Simon Girard<\/p>\n<\/blockquote>\n<p>Mobilisant la participation de plusieurs \u00e9tudiantes chercheuses et professionnelles de recherche de l\u2019UQAC, cette \u00e9tude a \u00e9t\u00e9 men\u00e9e en \u00e9troite collaboration avec des chercheurs, chercheuses et m\u00e9decins sp\u00e9cialistes du CIUSSS du Saguenay\u2212Lac-Saint-Jean.<\/p>\n<p>La m\u00e9thodologie d\u00e9velopp\u00e9e par le professeur Girard et son \u00e9quipe ouvre la voie \u00e0 une meilleure pr\u00e9vention et \u00e0 une adaptation des services de sant\u00e9 aux r\u00e9alit\u00e9s g\u00e9n\u00e9tiques de la population r\u00e9gionale. Elle sera partag\u00e9e avec la communaut\u00e9 scientifique, facilitant la r\u00e9alisation d\u2019\u00e9tudes similaires ailleurs au Qu\u00e9bec et dans le monde.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le professeur de l\u2019UQAC Simon Girard, sp\u00e9cialiste en g\u00e9nomique et bioinformatique et chercheur r\u00e9gulier au CIUSSS du Saguenay\u2212Lac-Saint-Jean, a men\u00e9 une \u00e9tude ayant abouti \u00e0 des retomb\u00e9es scientifiques significatives sur la compr\u00e9hension des maladies g\u00e9n\u00e9tiques pr\u00e9sentes dans la r\u00e9gion. Publi\u00e9e r\u00e9cemment dans le journal PLOS Genetics, cette recherche intitul\u00e9e Rare diseases load through the study [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":52195,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2795,2,4],"tags":[3,2997],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\r\n<title>Une \u00e9tude du professeur Simon Girard m\u00e8ne \u00e0 d\u2019importantes d\u00e9couvertes sur le patrimoine g\u00e9n\u00e9tique du Saguenay\u2013Lac-Saint-Jean - UQACtualit\u00e9s<\/title>\r\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\r\n<link rel=\"canonical\" href=\"https:\/\/www.uqac.ca\/uqactualites\/2025\/10\/20\/une-etude-du-professeur-simon-girard-mene-a-dimportantes-decouvertes-sur-le-patrimoine-genetique-du-saguenay-lac-saint-jean\/\" \/>\r\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\r\n<meta property=\"og:type\" content=\"article\" \/>\r\n<meta property=\"og:title\" content=\"Une \u00e9tude du professeur Simon Girard m\u00e8ne \u00e0 d\u2019importantes d\u00e9couvertes sur le patrimoine g\u00e9n\u00e9tique du Saguenay\u2013Lac-Saint-Jean - UQACtualit\u00e9s\" \/>\r\n<meta property=\"og:description\" content=\"Le professeur de l\u2019UQAC Simon Girard, sp\u00e9cialiste en g\u00e9nomique et bioinformatique et chercheur r\u00e9gulier au CIUSSS du Saguenay\u2212Lac-Saint-Jean, a men\u00e9 une \u00e9tude ayant abouti \u00e0 des retomb\u00e9es scientifiques significatives sur la compr\u00e9hension des maladies g\u00e9n\u00e9tiques pr\u00e9sentes dans la r\u00e9gion. 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