{"id":10748,"date":"2016-12-09T16:07:27","date_gmt":"2016-12-09T21:07:27","guid":{"rendered":"http:\/\/drupal.test\/projects\/sequencage-de-larn-dans-des-modeles-ex-vivo-provenant-de-patients-diagnostics-genetiques-au-dela\/"},"modified":"2023-06-02T14:17:42","modified_gmt":"2023-06-02T18:17:42","slug":"sequencage-de-larn-dans-des-modeles-ex-vivo-provenant-de-patients-diagnostics-genetiques-au-dela","status":"publish","type":"project","link":"https:\/\/genomecanada.ca\/fr\/project\/sequencage-de-larn-dans-des-modeles-ex-vivo-provenant-de-patients-diagnostics-genetiques-au-dela\/","title":{"rendered":"S\u00e9quen\u00e7age de l\u2019ARN dans des mod\u00e8les ex vivo provenant de patients : diagnostics g\u00e9n\u00e9tiques au-del\u00e0 d\u2019exomes entiers"},"content":{"rendered":"<p><strong>Projet de Phase 1<\/strong><\/p>\n<p>Il existe plus de 6\u00a0000\u00a0maladies rares (ou orphelines) caus\u00e9es par des mutations d\u2019un seul g\u00e8ne; collectivement, elles touchent plus de 500\u00a0000\u00a0enfants canadiens. Dans plus de la moiti\u00e9 des cas, on ne conna\u00eet pas exactement le g\u00e8ne \u00e0 l\u2019origine de la maladie. Sans diagnostic, les patients ne peuvent pas avoir acc\u00e8s \u00e0 des soins cliniques optimaux, ce qui engendre des co\u00fbts \u00e9normes en soins de sant\u00e9 et un lourd fardeau \u00e9motionnel \u00e0 la fois pour les patients et les familles. Il faut de nouvelles strat\u00e9gies pour les diagnostics cliniques, \u00e0 la fois d\u00e9terminer les mutations g\u00e9n\u00e9tiques responsables des maladies non diagnostiqu\u00e9es et d\u00e9couvrir de nouvelles causes des maladies g\u00e9n\u00e9tiques.<\/p>\n<p>Dr James Dowling et Michael Brudno, Ph.\u00a0D., de l\u2019H\u00f4pital pour enfants malades de Toronto (SickKids), croient que le s\u00e9quen\u00e7age de l\u2019ARN, une technologie qui donne le code, la composition et la quantit\u00e9 de mat\u00e9riel ARN dans les cellules, est la strat\u00e9gie id\u00e9ale pour d\u00e9couvrir les nouvelles mutations g\u00e9n\u00e9tiques \u00e0 l\u2019origine de maladies rares. L\u2019ARN diff\u00e8re dans toutes les cellules du corps (tandis que le g\u00e9nome reste le m\u00eame). La principale difficult\u00e9, en ce qui concerne l\u2019utilisation de la technologie de s\u00e9quen\u00e7age de l\u2019ARN pour les diagnostics cliniques, r\u00e9side dans l\u2019obtention n\u00e9cessaire des tissus (p.\u00a0ex., le c\u0153ur, le foie, les muscles, le cerveau) qui contiennent l\u2019ARN pr\u00e9sentant un int\u00e9r\u00eat. C\u2019est l\u00e0 une difficult\u00e9 \u00e9vidente, en particulier dans les contextes o\u00f9 il est difficile, voire impossible d\u2019obtenir le mat\u00e9riel source n\u00e9cessaire. Pour surmonter ce probl\u00e8me, le laboratoire du Dr Dowling s\u2019appuiera sur les r\u00e9ussites r\u00e9centes de SickKids concernant la cr\u00e9ation de mod\u00e8les <em>ex\u00a0vivo<\/em> de maladies et utilisera ces mod\u00e8les au lieu des biopsies de tissus pour effectuer le s\u00e9quen\u00e7age de l\u2019ARN et d\u00e9couvrir des mutations g\u00e9n\u00e9tiques. Ce laboratoire d\u00e9finira les contextes de la maladie (et les types de tissu) dans laquelle la technologie de s\u00e9quen\u00e7age peut \u00eatre utilis\u00e9e et, pour valider le principe, mettra la technologie \u00e0 l\u2019essai dans des \u00e9chantillons d\u2019une cohorte de patients dont la maladie g\u00e9n\u00e9tique p\u00e9diatrique demeure inconnue. Le Centre for Computational Medicine de M.\u00a0Brudno effectuera l\u2019analyse g\u00e9n\u00e9matique des ensembles de donn\u00e9es qui en r\u00e9sulteront et \u00e9laborera de nouveaux algorithmes pour identifier les mutations \u00e0 l\u2019origine des maladies.<\/p>\n<p>Le projet d\u00e9terminera la capacit\u00e9 d\u2019utiliser la technologie de s\u00e9quen\u00e7age de l\u2019ARN comme nouvel outil diagnostique et plateforme d\u2019analyse pour les maladies g\u00e9n\u00e9tiques pour lesquelles la technologie conviendra. En combinant les progr\u00e8s r\u00e9cents en biologie cellulaire, en g\u00e9nomique et en bio-informatique, le laboratoire pourra d\u00e9velopper une nouvelle m\u00e9thodologie diagnostique, transformant ainsi fondamentalement le processus de diagnostic clinique.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Projet de Phase 1 Il existe plus de 6\u00a0000\u00a0maladies rares (ou orphelines) caus\u00e9es par des mutations d\u2019un seul g\u00e8ne; collectivement, elles touchent plus de 500\u00a0000\u00a0enfants canadiens. Dans plus de la moiti\u00e9 des cas, on ne conna\u00eet pas exactement le g\u00e8ne \u00e0 l\u2019origine de la maladie. Sans diagnostic, les patients ne peuvent pas avoir acc\u00e8s \u00e0 [&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":[273,94],"genome-competitions":[217],"project-sector":[],"genome_centres":[108],"class_list":["post-10748","project","type-project","status-publish","hentry","project-categories-innovation-de-rupture","project-categories-leading-edge-technologies-fr","genome-competitions-concours-2015-innovation-de-rupture-en-genomique","genome_centres-ontario-genomics-fr"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00e9quen\u00e7age de l\u2019ARN dans des mod\u00e8les ex vivo provenant de patients : diagnostics g\u00e9n\u00e9tiques au-del\u00e0 d\u2019exomes entiers - 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\/sequencage-de-larn-dans-des-modeles-ex-vivo-provenant-de-patients-diagnostics-genetiques-au-dela\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00e9quen\u00e7age de l\u2019ARN dans des mod\u00e8les ex vivo provenant de patients : diagnostics g\u00e9n\u00e9tiques au-del\u00e0 d\u2019exomes entiers - GenomeCanada\" \/>\n<meta property=\"og:description\" content=\"Projet de Phase 1 Il existe plus de 6\u00a0000\u00a0maladies rares (ou orphelines) caus\u00e9es par des mutations d\u2019un seul g\u00e8ne; collectivement, elles touchent plus de 500\u00a0000\u00a0enfants canadiens. 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