{"id":31803,"date":"2024-02-26T10:38:02","date_gmt":"2024-02-26T15:38:02","guid":{"rendered":"https:\/\/genomecanada.ca\/?p=31803"},"modified":"2024-02-26T16:30:32","modified_gmt":"2024-02-26T21:30:32","slug":"les-maladies-rares-changer-le-cours-des-choses","status":"publish","type":"post","link":"https:\/\/genomecanada.ca\/fr\/les-maladies-rares-changer-le-cours-des-choses\/","title":{"rendered":"Les maladies rares : changer le cours des choses"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"31803\" class=\"elementor elementor-31803 elementor-31776\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"has_eae_slider elementor-section elementor-top-section elementor-element elementor-element-d7bea69 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-eae-slider=\"42373\" data-id=\"d7bea69\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"has_eae_slider elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-0c13b3c\" data-eae-slider=\"55978\" data-id=\"0c13b3c\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-33cfc1d elementor-widget__width-initial elementor-widget elementor-widget-text-editor\" data-id=\"33cfc1d\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h2>Les investissements continus en mati\u00e8re de diagnostic et de traitement ont de r\u00e9els impacts<\/h2>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"has_eae_slider elementor-section elementor-top-section elementor-element elementor-element-6465adb elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-eae-slider=\"88519\" data-id=\"6465adb\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"has_eae_slider elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-ce7084f\" data-eae-slider=\"66490\" data-id=\"ce7084f\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-8fb1eac elementor-widget elementor-widget-text-editor\" data-id=\"8fb1eac\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Les maladies rares ne sont pas vraiment rares. En fait, elles touchent une personne sur douze au Canada, un grand nombre \u00e9tant des enfants. Les familles doivent souvent entreprendre une longue odyss\u00e9e en vue de recevoir un diagnostic. Elles finissent par apprendre que leurs enfants sont atteints de l\u2019une des maladies rares qui se comptent par milliers, bien souvent sans option de traitement.<\/p><p>Des perc\u00e9es r\u00e9volutionnaires sont r\u00e9alis\u00e9es en mati\u00e8re de soins de sant\u00e9 de pr\u00e9cision en tirant parti du s\u00e9quen\u00e7age g\u00e9nomique pour diagnostiquer et traiter des maladies g\u00e9n\u00e9tiques. Cependant, l\u2019acc\u00e8s aux tests g\u00e9nomiques cliniques est variable au Canada.<\/p><p>Depuis plus de deux d\u00e9cennies, G\u00e9nome Canada investit dans le pouvoir de la science g\u00e9nomique au pays en vue de faire avancer les connaissances, qu\u2019il s\u2019agisse de diagnostic, de d\u00e9pistage ou de traitement. De plus, gr\u00e2ce \u00e0 des partenariats et \u00e0 des efforts de coordination, nous avons un r\u00e9el impact en ce qui concerne la recherche sur les maladies rares et l\u2019innovation.<\/p><p>Au cours des quatre derni\u00e8res ann\u00e9es, G\u00e9nome Canada a notamment vers\u00e9 du financement \u00e0 des chefs de file du milieu clinique et du domaine de la recherche au Canada dans le but de normaliser le s\u00e9quen\u00e7age du g\u00e9nome pour le diagnostic de maladies rares. Le Partenariat canadien des soins de sant\u00e9 de pr\u00e9cision <a href=\"https:\/\/genomecanada.ca\/fr\/domaines-defis\/tous-pour-un\/\" target=\"_blank\" rel=\"noopener\">Tous pour un<\/a> a \u00e9t\u00e9 lanc\u00e9 en 2022, avec six importants projets. Ces projets profitent aux patients et \u00e0 leurs familles. Ils ont un impact, car ils augmentent la capacit\u00e9 r\u00e9gionale, favorisent une r\u00e9flexion \u00e9quitable et \u00e9thique et renforcent le partage de donn\u00e9es. Ils comprennent les projets suivants :<\/p><ul><li><em>Mise en \u0153uvre du s\u00e9quen\u00e7age diagnostique du g\u00e9nome entier pour les maladies rares en Colombie-Britannique<\/em>, chef de projet : Anna Lehman (University of British Columbia), C.-B.<\/li><li><em>Mise en \u0153uvre translationnelle de la g\u00e9nomique pour les maladies rares<\/em>, chef de projet : Fran\u00e7ois Bernier (University of Calgary), Alberta.<\/li><li><em>R\u00e9seau m\u00e9tabolique des Prairies canadiennes<\/em>, chef de projet : Cheryl Rockman-Greenberg (Max Rady College of Medicine, Universit\u00e9 du Manitoba), Prairies.<\/li><li><em>Optimisation et mise en \u0153uvre d\u2019un service clinique de s\u00e9quen\u00e7age pang\u00e9nomique pour le diagnostic des maladies rares en Ontario<\/em>, chefs de projet : Kym Boycott (Institut de recherche du CHEO, Universit\u00e9 d\u2019Ottawa) et Martin Somerville (SickKids Research Institute, University of Toronto), Ontario.<\/li><li><em>S\u00e9quen\u00e7age rapide du g\u00e9nome entier chez les nouveau-n\u00e9s et les nourrissons en contexte de soins de courte dur\u00e9e<\/em>, chef de projet : Jacques Michaud (Centre de recherche du CHU Sainte-Justine), Qu\u00e9bec.<\/li><li><em>Mise en \u0153uvre d\u2019exomes cliniques dans un contexte pr\u00e9natal et p\u00e9rinatal<\/em>, chefs de projet : Karen Bedard et Victor Martinez (IWK Health Centre, Dalhousie University), Maritimes.<\/li><\/ul><p>En plus de ces six projets, l\u2019initiative Tous pour un est soutenue par la <a href=\"https:\/\/genomecanada.ca\/fr\/project\/connecteur-strategique-trousse-doutils-strategiques-tous-pour-un-etat\/\" target=\"_blank\" rel=\"noopener\">trousse d\u2019outils strat\u00e9giques Tous pour un<\/a> afin d\u2019assurer une collecte \u00e9thique et \u00e9quitable de donn\u00e9es g\u00e9nomiques et cliniques. En outre, l\u2019\u00e9laboration d\u2019un <a href=\"https:\/\/genomecanada.ca\/fr\/project\/connecteur-de-donnees-tous-pour-un-definition-dune-solution-canadienne-pour-les-donnees-necessaires-a-la-prestation-de-soins-de-sante-de-precision-pour-les-maladies-genetiques-rares\/\" target=\"_blank\" rel=\"noopener\">\u00e9cosyst\u00e8me pancanadien de donn\u00e9es sur la sant\u00e9<\/a> appuie l\u2019int\u00e9gration de donn\u00e9es g\u00e9nomiques et cliniques pour am\u00e9liorer les soins aux patients et favoriser les perc\u00e9es scientifiques.<\/p><p>G\u00e9nome Canada continue de faire \u00e9quipe avec des utilisateurs finaux et avec les responsables de la mise en \u0153uvre, y compris les provinces, des entreprises et des partenaires de l\u2019industrie, afin d\u2019assurer une transition en douceur de la recherche au chevet des patients. <\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"has_eae_slider elementor-section elementor-top-section elementor-element elementor-element-364bf65 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-eae-slider=\"72851\" data-id=\"364bf65\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"has_eae_slider elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-88726f6\" data-eae-slider=\"14682\" data-id=\"88726f6\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1269259 elementor-widget elementor-widget-image\" data-id=\"1269259\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8-1024x576.png\" class=\"attachment-large size-large wp-image-31804\" alt=\"\" srcset=\"https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8-1024x576.png 1024w, https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8-300x169.png 300w, https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8-768x432.png 768w, https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8-1536x864.png 1536w, https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/Misc.-Twitter-graphics-2024-8.png 1600w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Les investissements continus en mati\u00e8re de diagnostic et de traitement ont de r\u00e9els impacts Les maladies rares ne sont pas vraiment rares. En fait, elles touchent une personne sur douze au Canada, un grand nombre \u00e9tant des enfants. Les familles doivent souvent entreprendre une longue odyss\u00e9e en vue de recevoir un diagnostic. Elles finissent par [&hellip;]<\/p>\n","protected":false},"author":8,"featured_media":31822,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[127,128],"tags":[],"mission-categories":[160,163],"class_list":["post-31803","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news-fr","category-reussites","mission-categories-sante","mission-categories-all-for-one-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Les maladies rares : changer le cours des choses - GenomeCanada<\/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:\/\/genomecanada.ca\/fr\/les-maladies-rares-changer-le-cours-des-choses\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Les maladies rares : changer le cours des choses - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Les investissements continus en mati\u00e8re de diagnostic et de traitement ont de r\u00e9els impacts Les maladies rares ne sont pas vraiment rares. En fait, elles touchent une personne sur douze au Canada, un grand nombre \u00e9tant des enfants. Les familles doivent souvent entreprendre une longue odyss\u00e9e en vue de recevoir un diagnostic. Elles finissent par [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genomecanada.ca\/fr\/les-maladies-rares-changer-le-cours-des-choses\/\" \/>\n<meta property=\"og:site_name\" content=\"GenomeCanada\" \/>\n<meta property=\"article:published_time\" content=\"2024-02-26T15:38:02+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-02-26T21:30:32+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/genomecanada.ca\/wp-content\/uploads\/2024\/02\/04_GC_Rare_FULL-FR_Twitter.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1601\" \/>\n\t<meta property=\"og:image:height\" content=\"901\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Nicola Katz\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"Nicola Katz\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/\"},\"author\":{\"name\":\"Nicola Katz\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/#\\\/schema\\\/person\\\/385bb861415d30d3ca126e8d1cd6fa93\"},\"headline\":\"Les maladies rares : changer le cours des choses\",\"datePublished\":\"2024-02-26T15:38:02+00:00\",\"dateModified\":\"2024-02-26T21:30:32+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/\"},\"wordCount\":621,\"publisher\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/genomecanada.ca\\\/wp-content\\\/uploads\\\/2024\\\/02\\\/04_GC_Rare_FULL-FR_Twitter.png\",\"articleSection\":[\"News\",\"R\u00e9ussites\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/\",\"url\":\"https:\\\/\\\/genomecanada.ca\\\/fr\\\/les-maladies-rares-changer-le-cours-des-choses\\\/\",\"name\":\"Les maladies rares : changer le cours des choses - 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