{"id":1481,"date":"2026-07-27T14:37:35","date_gmt":"2026-07-27T18:37:35","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/development-of-a-platform-for-the-molecular-diagnosis-of-zellweger-syndrome-in-quebec\/"},"modified":"2026-07-31T14:56:13","modified_gmt":"2026-07-31T18:56:13","slug":"development-of-a-platform-for-the-molecular-diagnosis-of-zellweger-syndrome-in-quebec","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/development-of-a-platform-for-the-molecular-diagnosis-of-zellweger-syndrome-in-quebec\/","title":{"rendered":"Development of a platform for the molecular diagnosis of Zellweger syndrome in Quebec"},"content":{"rendered":"<div class=\"htb htb-hero-simple htb-hero-simple--js   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-1 \" >\n\t<div class=\"container-fluid\">\n\t\t<div class=\"row\">\n\t\t\t<div class=\"col-12 \">\n\t\t\t\t<div class=\"content-box \">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"henri-breadcrumb-box\">\n\t\t\t<nav aria-label=\"breadcrumb\">\n\t\t\t\t<ol class=\"breadcrumb\" itemscope itemtype=\"http:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item \" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t<a href=\"https:\/\/cartagene.qc.ca\/en\/\">Home<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t<a href=\"\/en\/projects\">Projects<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item active\" aria-current=\"page\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">Development of a platform for the molecular diagnosis of Zellweger syndrome in Quebec<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ol>\n\t\t\t<\/nav>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<h1 >Development of a platform for the molecular diagnosis of Zellweger syndrome in Quebec<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t<\/div>\n<\/div>\n\n\n<div class=\"htb htb-fiche_technique   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-2 \" >\n\n\t\n\t\t\t<div class=\"container-xxl\">\n\t\t\t<div class=\"row\">\n\t\t\t\t<div class=\"col-12\">\n\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Status<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Completed<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Start date<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">2012<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Location<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Quebec<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Researcher<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Bouchard, Luigi<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Associated institution<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Centre de recherche et d\u2019innovation Saguenay-Lac-Saint-Jean and Universit\u00e9 de Sherbrooke<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Summary<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><p>This project aimed to determine the prevalence of genetic mutations causing Zellweger syndrome (ZS) in the Saguenay\u2013Lac\u2011Saint\u2011Jean (SLSJ) region and across Quebec, with the goal of developing an effective molecular carrier screening test. ZS is a rare and severe autosomal recessive disorder, typically presenting in newborns and leading to multi\u2011organ dysfunction and early mortality. Due to a strong founder effect in the SLSJ region, a specific PEX6 mutation has been found in all diagnosed local cases over the past two decades. Using DNA samples from CARTaGENE participants across several regions, researchers genotyped individuals to estimate the frequency of this and other ZS\u2011related variants. The results confirmed a markedly higher carrier rate in the SLSJ population, supporting the introduction of a clinical diagnostic test to identify carriers and improve access to genetic services. This work also provides essential data for future consideration of a voluntary population\u2011based carrier screening program in the region.<\/p>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Themes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Chronic diseases<\/li>\n<li>Genetics and genomics<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Data types<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Questionnaire data<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","projet-categorie":[],"projet-status":[50],"projet-thematique":[53,51],"projet-type-donnees":[58],"projet-localisation":[64],"class_list":["post-1481","projet","type-projet","status-publish","hentry","projet-status-completed","projet-thematique-chronic-diseases","projet-thematique-genetics-and-genomics","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Development of a platform for the molecular diagnosis of Zellweger syndrome in Quebec | CARTaGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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