{"id":15560,"date":"2024-05-23T12:24:00","date_gmt":"2024-05-23T16:24:00","guid":{"rendered":"https:\/\/cheofoundation.com\/algorithme-dintelligence-artificielle-mis-au-point-au-cheo\/"},"modified":"2026-01-14T12:24:51","modified_gmt":"2026-01-14T17:24:51","slug":"un-algorithme-dintelligence-artificielle-mis-au-point-au-cheo-mene-au-diagnostic-de-maladies-rares","status":"publish","type":"post","link":"https:\/\/cheofoundation.com\/fr\/un-algorithme-dintelligence-artificielle-mis-au-point-au-cheo-mene-au-diagnostic-de-maladies-rares\/","title":{"rendered":"Un algorithme d\u2019intelligence artificielle mis au point au CHEO m\u00e8ne au diagnostic de maladies rares"},"content":{"rendered":"\n<p>En exploitant le pouvoir de l\u2019intelligence artificielle (IA), des chercheuses et chercheurs du CHEO ont mis au point un algorithme de recherche r\u00e9volutionnaire qui rep\u00e8re les enfants et les jeunes susceptibles d\u2019avoir une maladie g\u00e9n\u00e9tique rare non diagnostiqu\u00e9e et les aiguillent vers des tests g\u00e9n\u00e9tiques, mettant ainsi fin \u00e0 leur odyss\u00e9e diagnostique.<\/p>\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u00ab\u202fL\u2019algorithme ThinkRare est incroyablement int\u00e9ressant et prometteur parce qu\u2019il signifie que nous pouvons aider les familles \u00e0 trouver des r\u00e9ponses et \u00e0 obtenir plus rapidement les soins et le soutien dont elles ont besoin, a d\u00e9clar\u00e9 la Dre\u202fKym\u202fBoycott, scientifique principale \u00e0 l\u2019Institut de recherche du CHEO et chef du D\u00e9partement de g\u00e9n\u00e9tique au CHEO. Cet algorithme change la donne. En utilisant l\u2019IA pour parcourir les dossiers de sant\u00e9 \u00e9lectroniques du CHEO en fonction de crit\u00e8res \u00e9tablis, ThinkRare peut rep\u00e9rer avec pr\u00e9cision les enfants qui pourraient \u00eatre atteints d\u2019une maladie g\u00e9n\u00e9tique rare non diagnostiqu\u00e9e et les aiguiller vers notre clinique, ce qui n\u2019aurait peut-\u00eatre jamais \u00e9t\u00e9 possible sans cet outil.\u202f\u00bb<\/p>\n\n\n\n<p class=\"has-small-font-size\">-Dr. <a href=\"https:\/\/www.cheoresearch.ca\/research\/find-a-researcher\/kym-m-boycott\/\">Kym Boycott,<\/a> Senior Scientist at the CHEO Research Institute and Chief of Genetics at CHEO.<\/p>\n<\/blockquote>\n\n<p>Antony\u202fWistaff, 10\u202fans, et sa famille ont pass\u00e9 un nombre incalculable d\u2019heures au CHEO, qualifiant ce dernier de \u00ab\u202fr\u00e9sidence secondaire\u202f\u00bb. Antony est n\u00e9 pr\u00e9matur\u00e9ment en octobre\u202f2013 et, quelques jours plus tard, il a subi une intervention chirurgicale d\u2019urgence au CHEO afin de placer un shunt pour traiter une hydroc\u00e9phalie. Mais ce n\u2019\u00e9tait que le d\u00e9but de ce qui allait devenir un parcours diagnostique de 10\u202fans comprenant plus de 100\u202frendez-vous externes dans six cliniques sp\u00e9cialis\u00e9es diff\u00e9rentes du CHEO, et 30\u202fvisites \u00e0 l\u2019urgence pour diverses raisons.  <\/p>\n\n<p>C\u2019\u00e9tait jusqu\u2019\u00e0 tout r\u00e9cemment, lorsque l\u2019algorithme ThinkRare a rep\u00e9r\u00e9 Antony comme \u00e9tant possiblement atteint d\u2019une maladie g\u00e9n\u00e9tique rare non diagnostiqu\u00e9e et l\u2019a aiguill\u00e9 vers un test de s\u00e9quen\u00e7age de l\u2019ensemble du g\u00e9nome\u202f\u2013\u202fun test qui analyse simultan\u00e9ment plus de 5\u202f000\u202fg\u00e8nes associ\u00e9s \u00e0 des maladies rares\u202f\u2013\u202fet qui est maintenant disponible cliniquement en Ontario.<\/p>\n\n<p>Les r\u00e9sultats du test g\u00e9n\u00e9tique ont r\u00e9v\u00e9l\u00e9 qu\u2019Antony est atteint du syndrome de ChungJansen, une maladie rare caus\u00e9e par une variante pathog\u00e8ne du g\u00e8ne\u202fPHIP. \u00c0 l\u2019heure actuelle, le syndrome n\u2019a \u00e9t\u00e9 diagnostiqu\u00e9 que chez environ 400\u202fpersonnes dans le monde et il explique bon nombre des probl\u00e8mes de sant\u00e9 et de comportement d\u2019Antony, y compris ses retards de d\u00e9veloppement, ses difficult\u00e9s d\u2019apprentissage et la taille de sa t\u00eate. <\/p>\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u00ab\u202fLorsque nous avons appris qu\u2019Antony \u00e9tait atteint du syndrome de ChungJansen, cela a r\u00e9pondu \u00e0 tant de questions pour notre famille, a affirm\u00e9 Georges\u202fWistaff, le p\u00e8re d\u2019Antony. Cette recherche nous a apport\u00e9 une sorte de paix. Si nous l\u2019avions su plus t\u00f4t, nous aurions eu moins de questions \u00e0 poser en tant que parents, aurions subi moins de stress et aurions re\u00e7u plus de soutien, car nous aurions eu un diagnostic clair pour Antony. Un peu de sang et un simple test ont r\u00e9pondu \u00e0 tant de questions.\u202f\u00bb<\/p>\n\n\n\n<p class=\"has-small-font-size\">-Georges Wistaff, le p\u00e8re d\u2019Antoine.<\/p>\n<\/blockquote>\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe loading=\"lazy\" title=\"AI leads to rare disease diagnosis for families\" width=\"1320\" height=\"743\" src=\"https:\/\/www.youtube.com\/embed\/Wk-E2ED3TCw?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n<\/div><\/figure>\n\n<h2 class=\"wp-block-heading\">Faire passer ThinkRare de la recherche aux soins cliniques<\/h2>\n\n<p>Les r\u00e9sultats du test g\u00e9n\u00e9tique ont r\u00e9v\u00e9l\u00e9 qu\u2019Antony est atteint du syndrome de ChungJansen, une maladie rare caus\u00e9e par une variante pathog\u00e8ne du g\u00e8ne\u202fPHIP. \u00c0 l\u2019heure actuelle, le syndrome n\u2019a \u00e9t\u00e9 diagnostiqu\u00e9 que chez environ 400\u202fpersonnes dans le monde et il explique bon nombre des probl\u00e8mes de sant\u00e9 et de comportement d\u2019Antony, y compris ses retards de d\u00e9veloppement, ses difficult\u00e9s d\u2019apprentissage et la taille de sa t\u00eate. <\/p>\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u00ab\u202fNotre objectif est d\u2019inverser le parcours des soins diagnostiques et de commencer les tests g\u00e9n\u00e9tiques plus t\u00f4t dans la voie d\u2019acc\u00e8s aux soins. En int\u00e9grant l\u2019algorithme ThinkRare aux soins cliniques, nous serons en mesure d\u2019aider les cliniciennes et les cliniciens ainsi que les travailleuses et les travailleurs de premi\u00e8re ligne du CHEO gr\u00e2ce \u00e0 la puissance de l\u2019apprentissage machine pour trouver l\u2019aiguille dans la botte de foin,\u202f\u00bb <\/p>\n\n\n\n<p class=\"has-small-font-size\">-Dr. Boycott,Tier 1 Canada Research Chair in Rare Disease Precision Health and Professor of Pediatrics at the University of Ottawa. <\/p>\n<\/blockquote>\n\n<p>Des travaux sont en cours au CHEO pour faire passer le projet ThinkRare de la recherche \u00e0 la pratique clinique, avec tous les m\u00e9canismes n\u00e9cessaires de protection de la vie priv\u00e9e des patientes et patients en place.<\/p>\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u00ab\u202fLe CHEO est particuli\u00e8rement bien plac\u00e9 pour mettre au point un algorithme percutant comme ThinkRare gr\u00e2ce \u00e0 son investissement dans un solide syst\u00e8me de dossiers de sant\u00e9 \u00e9lectroniques, \u00e0 notre engagement \u00e0 l\u2019\u00e9gard de l\u2019innovation, \u00e0 l\u2019\u00e9troite collaboration entre les \u00e9quipes cliniques et de recherche, et parce que nous sommes le seul centre de soins de sant\u00e9 p\u00e9diatriques de l\u2019Est de l\u2019Ontario desservant une vaste r\u00e9gion g\u00e9ographique. Au CHEO, nous avons r\u00e9uni tous les \u00e9l\u00e9ments n\u00e9cessaires pour faire progresser l\u2019IA dans les soins de sant\u00e9\u202f\u00bb <\/p>\n\n\n\n<p class=\"has-small-font-size\">&#8211;<a href=\"https:\/\/www.cheoresearch.ca\/research\/find-a-researcher\/jason-berman\/\">Dr. Jason Berman<\/a>, CEO and Scientific Director, CHEO Research Institute, and Vice-President Research, CHEO.<\/p>\n<\/blockquote>\n\n<p>Le projet ThinkRare a \u00e9t\u00e9 rendu possible gr\u00e2ce au financement de la Fondation du CHEO, du Fonds d\u2019innovation du CHAMO et d\u2019Ontario\u202fGenomics.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>En exploitant le pouvoir de l\u2019intelligence artificielle (IA), des chercheuses et chercheurs du CHEO ont mis au point un algorithme de recherche r\u00e9volutionnaire qui rep\u00e8re les enfants et les jeunes susceptibles d\u2019avoir une maladie g\u00e9n\u00e9tique rare non diagnostiqu\u00e9e et les aiguillent vers des tests g\u00e9n\u00e9tiques, mettant ainsi fin \u00e0 leur odyss\u00e9e diagnostique.<\/p>\n","protected":false},"author":1,"featured_media":14575,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_eb_attr":"","footnotes":""},"categories":[97,99],"tags":[],"class_list":["post-15560","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articles-de-presse","category-recherche"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Un algorithme d\u2019intelligence artificielle mis au point au CHEO m\u00e8ne au diagnostic de maladies rares | Fondation du CHEO<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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