{"id":10953,"date":"2019-03-28T17:50:20","date_gmt":"2019-03-28T17:50:20","guid":{"rendered":"http:\/\/drupal.test\/projects\/au-dela-du-genome-diagnostics-de-maladies-rares-et-de-cancer-fondes-sur-le-transcriptome\/"},"modified":"2022-07-26T10:45:04","modified_gmt":"2022-07-26T14:45:04","slug":"au-dela-du-genome-diagnostics-de-maladies-rares-et-de-cancer-fondes-sur-le-transcriptome","status":"publish","type":"project","link":"https:\/\/genomecanada.ca\/fr\/project\/au-dela-du-genome-diagnostics-de-maladies-rares-et-de-cancer-fondes-sur-le-transcriptome\/","title":{"rendered":"Au-del\u00e0 du g\u00e9nome : Diagnostics de maladies rares et de cancer fond\u00e9s sur le transcriptome"},"content":{"rendered":"<p>Les maladies g\u00e9n\u00e9tiques rares touchent plus de 500 000 enfants au Canada et causent souvent une invalidit\u00e9 grave et des d\u00e9c\u00e8s pr\u00e9matur\u00e9s, alors que le cancer est la cause principale de d\u00e9c\u00e8s non accidentel dans l\u2019enfance. Un diagnostic h\u00e2tif \u00e0 l\u2019\u00e9chelle mol\u00e9culaire est indispensable pour que chaque personne re\u00e7oive le bon traitement le plus rapidement possible. Les tests g\u00e9n\u00e9tiques les plus perfectionn\u00e9s peuvent toutefois diagnostiquer moins de la moiti\u00e9 de tous les enfants atteints de maladies rares et ne peuvent pas d\u00e9celer des modifications g\u00e9n\u00e9tiques importantes dans des tumeurs, ce qui est indispensable \u00e0 un traitement fructueux.<\/p>\n<p>Dans la premi\u00e8re phase du concours, Adam Shlien et James Dowling, Ph. D., de l\u2019Hospital for Sick Children, et les codirecteurs Michael Wilson et Michael Brudno, Ph. D., ont d\u00e9montr\u00e9 que le s\u00e9quen\u00e7age de l\u2019ARN (ARN-seq), une nouvelle technologie qui examine l\u2019activit\u00e9 et la structure des g\u00e8nes, peut trouver des variantes g\u00e9n\u00e9tiques \u00e0 la source de maladies (Dowling) et d\u00e9celer des mutations et des fusions dans des g\u00e8nes canc\u00e9reux (Shlien). Plus important encore, un grand nombre de ces mutations ne sont pas r\u00e9v\u00e9l\u00e9es par les tests g\u00e9n\u00e9tiques actuels. Dans cette deuxi\u00e8me phase, les chercheurs allient leurs forces pour approfondir et optimiser les \u00e9l\u00e9ments technologiques du s\u00e9quen\u00e7age de l\u2019ARN et d\u00e9terminer de mani\u00e8re d\u00e9finitive comment il agit dans un test clinique. Le but est de cr\u00e9er une plateforme de diagnostic cliniquement viable et compl\u00e8te fond\u00e9e sur le s\u00e9quen\u00e7age de l\u2019ARN pour les maladies rares et le cancer. Cette plateforme sera enti\u00e8rement automatis\u00e9e, utilisera une robotique de pointe et des algorithmes et am\u00e9liorera l\u2019exactitude de chaque \u00e9chantillon analys\u00e9.<\/p>\n<p>Les travaux des chercheurs aboutiront au premier test diagnostique fond\u00e9 sur le s\u00e9quen\u00e7age de l\u2019ARN en milieu clinique au Canada. Lorsqu\u2019il sera enti\u00e8rement mis en \u0153uvre, le test accro\u00eetra de mani\u00e8re consid\u00e9rable le taux de r\u00e9ussite des tests g\u00e9n\u00e9tiques chez les enfants atteints de maladies g\u00e9n\u00e9tiques rares et de cancer de m\u00eame que l\u2019acc\u00e8s aux essais cliniques. Les chercheurs cr\u00e9eront \u00e9galement une biblioth\u00e8que num\u00e9rique dynamique pour int\u00e9grer les donn\u00e9es de s\u00e9quen\u00e7age de l\u2019ARN \u00e0 une gamme de renseignements sur la sant\u00e9, cr\u00e9ant ainsi un milieu propice \u00e0 une v\u00e9ritable m\u00e9decine de pr\u00e9cision pour toute la population canadienne.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Les maladies g\u00e9n\u00e9tiques rares touchent plus de 500 000 enfants au Canada et causent souvent une invalidit\u00e9 grave et des d\u00e9c\u00e8s pr\u00e9matur\u00e9s, alors que le cancer est la cause principale de d\u00e9c\u00e8s non accidentel dans l\u2019enfance. Un diagnostic h\u00e2tif \u00e0 l\u2019\u00e9chelle mol\u00e9culaire est indispensable pour que chaque personne re\u00e7oive le bon traitement le plus rapidement [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","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":"default","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":""}}},"project-categories":[94],"genome-competitions":[218],"project-sector":[],"genome_centres":[108],"class_list":["post-10953","project","type-project","status-publish","hentry","project-categories-leading-edge-technologies-fr","genome-competitions-concours-2017-innovation-de-rupture-en-genomique-passage-des-projets-de-la-phase-1-a-la-phase-2","genome_centres-ontario-genomics-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Au-del\u00e0 du g\u00e9nome : Diagnostics de maladies rares et de cancer fond\u00e9s sur le transcriptome - 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\/project\/au-dela-du-genome-diagnostics-de-maladies-rares-et-de-cancer-fondes-sur-le-transcriptome\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Au-del\u00e0 du g\u00e9nome : Diagnostics de maladies rares et de cancer fond\u00e9s sur le transcriptome - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Les maladies g\u00e9n\u00e9tiques rares touchent plus de 500 000 enfants au Canada et causent souvent une invalidit\u00e9 grave et des d\u00e9c\u00e8s pr\u00e9matur\u00e9s, alors que le cancer est la cause principale de d\u00e9c\u00e8s non accidentel dans l\u2019enfance. 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