{"id":1646,"date":"2025-09-21T20:33:13","date_gmt":"2025-09-22T01:33:13","guid":{"rendered":"https:\/\/can-act.org\/projets-actifs\/"},"modified":"2025-10-21T13:47:06","modified_gmt":"2025-10-21T18:47:06","slug":"projets-actifs","status":"publish","type":"page","link":"https:\/\/can-act.org\/fr\/projets-actifs\/","title":{"rendered":"Projets actifs"},"content":{"rendered":"\t\t
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Projets actifs<\/h1>\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Syndromes du tissu conjonctif et g\u00e9n\u00e9tique de l'aortopathie<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
\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<\/div>\n\t\t\t\t
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Dr Benedikt Hallgr\u00edmsson et al.<\/strong>
Universit\u00e9 de Calgary<\/strong><\/p>\n

Les personnes atteintes de maladies h\u00e9r\u00e9ditaires de l’aorte thoracique (MAHT) courent un risque important d’an\u00e9vrismes et de dissections aortiques. Ces affections peuvent s’inscrire dans le cadre d’un syndrome plus large affectant le tissu conjonctif dans tout le corps, causant des probl\u00e8mes articulaires, des diff\u00e9rences squelettiques et une faiblesse musculaire, ou se pr\u00e9senter sous forme de formes h\u00e9r\u00e9ditaires isol\u00e9es sans autres sympt\u00f4mes visibles. M\u00eame lorsque la cause g\u00e9n\u00e9tique est connue, les m\u00e9decins peinent encore \u00e0 pr\u00e9dire la gravit\u00e9 de la maladie ou le moment o\u00f9 un \u00e9v\u00e9nement dangereux pourrait survenir.<\/p>\n

Cette recherche explore une id\u00e9e novatrice\u00a0: de subtiles diff\u00e9rences dans la forme du visage pourraient refl\u00e9ter les m\u00eames processus biologiques sous-jacents qui affectent l’aorte. En \u00e9tudiant des images faciales 3D parall\u00e8lement \u00e0 des donn\u00e9es g\u00e9n\u00e9tiques, les chercheurs esp\u00e8rent d\u00e9couvrir des sch\u00e9mas permettant de pr\u00e9dire la gravit\u00e9 de la maladie aortique et d’identifier les personnes les plus \u00e0 risque.<\/p>\n

Objectifs de recherche<\/strong><\/h3>\n

<\/p>\n

Objectif 1\u00a0: \u00c9tablir un lien entre les caract\u00e9ristiques faciales et la gravit\u00e9 de la maladie aortique<\/strong><\/h4>\n

<\/p>\n

    \n
  • \u00c9tudes humaines\u00a0:<\/strong> \u00c0 l\u2019aide de scanners faciaux 3D et de donn\u00e9es cliniques de personnes atteintes de MAHT syndromique et non syndromique, les chercheurs d\u00e9termineront si des sch\u00e9mas faciaux sp\u00e9cifiques sont li\u00e9s \u00e0 une croissance aortique plus rapide ou \u00e0 une aggravation de la maladie.<\/li>\n
  • \u00c9tudes animales\u00a0:<\/strong> Chez la souris et le poisson-z\u00e8bre pr\u00e9sentant des modifications g\u00e9n\u00e9tiques similaires \u00e0 celles observ\u00e9es chez l\u2019homme, l\u2019\u00e9quipe examinera si les variations de forme faciale correspondent \u00e0 des diff\u00e9rences de gravit\u00e9 de l\u2019aortopathie.<\/li>\n<\/ul>\n

    <\/p>\n

    Objectif 2\u00a0: Identifier les facteurs g\u00e9n\u00e9tiques de la gravit\u00e9 de la maladie<\/strong><\/h4>\n

    <\/p>\n

      \n
    • Analyse g\u00e9n\u00e9tique\u00a0:<\/strong> L\u2019\u00e9quipe r\u00e9alisera des \u00e9tudes pang\u00e9nomiques afin d\u2019identifier les g\u00e8nes li\u00e9s \u00e0 la fois \u00e0 la forme faciale et aux caract\u00e9ristiques de la maladie aortique.<\/li>\n
    • Tests cibl\u00e9s\u00a0:<\/strong> L\u2019\u00e9quipe se concentrera ensuite sur les individus pr\u00e9sentant les formes extr\u00eames, c\u2019est-\u00e0-dire celles pr\u00e9sentant des formes particuli\u00e8rement l\u00e9g\u00e8res ou s\u00e9v\u00e8res, afin d\u2019identifier les g\u00e8nes qui influencent le plus fortement l\u2019\u00e9volution de la maladie.<\/li>\n<\/ul>\n

      <\/p>\n

      Impact attendu<\/strong><\/h3>\n

      Les recommandations cliniques actuelles reposent principalement sur la mesure de la taille de l\u2019aorte, qui ne permet pas toujours de pr\u00e9dire les personnes les plus \u00e0 risque de dissection potentiellement mortelle. En combinant des informations faciales, g\u00e9n\u00e9tiques et biologiques, ce projet vise \u00e0 cr\u00e9er de nouveaux outils qui peuvent am\u00e9liorer le diagnostic, aider \u00e0 personnaliser les calendriers de surveillance et guider les d\u00e9cisions concernant les soins m\u00e9dicaux et chirurgicaux, sauvant potentiellement des vies gr\u00e2ce \u00e0 une \u00e9valuation des risques plus pr\u00e9coce et plus pr\u00e9cise.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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      D\u00e9veloppement d'un syst\u00e8me de diagnostic pr\u00e9coce des maladies h\u00e9r\u00e9ditaires de l'aorte thoracique (MAHT) destin\u00e9 aux services d'urgence et aux soins primaires partout au Canada<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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      Source: https:\/\/www.mayoclinic.org\/diseases-conditions\/aortic-dissection\/symptoms-causes\/syc-20369496<\/figcaption>\n\t\t\t\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t
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      Dr Albert Mallia et al.<\/strong>
      R\u00e9seau universitaire de sant\u00e9, Toronto<\/strong><\/p>\n

      Les personnes atteintes de maladies h\u00e9r\u00e9ditaires de l’aorte thoracique (MAHT) \u2014 notamment le syndrome de Marfan, le syndrome de Loeys-Dietz, le syndrome d’Ehlers-Danlos vasculaire (SEDv) et l’an\u00e9vrisme et la dissection aortiques thoraciques familiaux \u2014 pr\u00e9sentent un risque d’\u00e9v\u00e9nements potentiellement mortels, comme des an\u00e9vrismes ou des dissections aortiques. Malheureusement, de nombreuses personnes ne re\u00e7oivent un diagnostic qu’apr\u00e8s une urgence m\u00e9dicale majeure.<\/p>\n

       <\/p>\n

      Les patients atteints de MAHT consultent souvent les services d’urgence ou leur m\u00e9decin de famille pour d’autres probl\u00e8mes de sant\u00e9 cardiaques et non cardiaques, bien avant que l’affection aortique sous-jacente ne soit diagnostiqu\u00e9e. Les syst\u00e8mes de diagnostic pr\u00e9coce (EDxS) actuels au Canada ne sont pas con\u00e7us pour d\u00e9tecter ces signes avant-coureurs, m\u00eame si des syst\u00e8mes similaires se sont av\u00e9r\u00e9s efficaces pour d’autres maladies.<\/p>\n

       <\/p>\n

      Ce projet vise \u00e0 aider les professionnels de la sant\u00e9 \u00e0 identifier plus t\u00f4t les personnes susceptibles de pr\u00e9senter un MAHT non diagnostiqu\u00e9, afin qu’elles puissent b\u00e9n\u00e9ficier des tests, du suivi et du traitement appropri\u00e9s avant l’apparition de complications graves.<\/p>\n

      Objectifs de la recherche<\/strong><\/h3>\n

      <\/p>\n

      Objectif 1\u00a0: Identifier les signes avant-coureurs du MAHT<\/strong><\/h4>\n

      Les chercheurs travailleront directement avec des Canadiens ayant d\u00e9j\u00e0 re\u00e7u un diagnostic de MAHT afin de recueillir des informations sur leurs premiers sympt\u00f4mes et les types de consultations m\u00e9dicales qu’ils ont effectu\u00e9es avant le diagnostic. Cela permettra de dresser une liste des probl\u00e8mes cardiaques (li\u00e9s au c\u0153ur) et non cardiaques courants qui pourraient servir de \u00ab\u00a0signaux d’alerte\u00a0\u00bb pour les m\u00e9decins.<\/p>\n

      Objectif 2\u00a0: Cr\u00e9er un syst\u00e8me national de diagnostic pr\u00e9coce (MAHT-EDxS)<\/strong><\/h4>\n

      \u00c0 partir de ces r\u00e9sultats, l’\u00e9quipe concevra et testera un outil de diagnostic convivial pouvant \u00eatre mis en \u0153uvre dans les services d’urgence et les cliniques de soins primaires. Ce syst\u00e8me aidera les professionnels de la sant\u00e9 \u00e0 d\u00e9terminer quand orienter les patients vers un bilan et un plan de prise en charge complets du MAHT.<\/p>\n

      R\u00e9sultats et impacts attendus<\/strong><\/h3>\n

      Ce syst\u00e8me permettra non seulement de sensibiliser les professionnels de la sant\u00e9, mais aussi de donner aux patients et \u00e0 leurs familles les moyens d’obtenir des r\u00e9ponses plus rapides et d’acc\u00e9der \u00e0 des soins appropri\u00e9s.<\/p>\n

      \u00c0 long terme, cette initiative vise \u00e0\u00a0:<\/p>\n

        \n
      • Accro\u00eetre la d\u00e9tection pr\u00e9coce du MAHT au Canada\u00a0;<\/li>\n
      • Am\u00e9liorer la s\u00e9curit\u00e9 des patients en pr\u00e9venant les \u00e9v\u00e9nements aortiques catastrophiques\u00a0;<\/li>\n
      • Sensibiliser le syst\u00e8me de sant\u00e9 canadien au MAHT \u00e0 l’\u00e9chelle nationale.<\/li>\n<\/ul>\n

        Gr\u00e2ce \u00e0 un d\u00e9pistage et \u00e0 une intervention pr\u00e9coces, ce projet esp\u00e8re sauver des vies et am\u00e9liorer la qualit\u00e9 de vie des personnes et des familles touch\u00e9es par ces maladies rares, mais graves.<\/p>\n\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\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

        Projets actifs Syndromes du tissu conjonctif et g\u00e9n\u00e9tique de l’aortopathie Dr Benedikt Hallgr\u00edmsson et al.Universit\u00e9 de Calgary Les personnes atteintes de maladies h\u00e9r\u00e9ditaires de l’aorte thoracique (MAHT) courent un risque important d’an\u00e9vrismes et de dissections aortiques. Ces affections peuvent s’inscrire dans le cadre d’un syndrome plus large affectant le tissu conjonctif dans tout le corps, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":6,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"full-width-container","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":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","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":"var(--ast-global-color-4)","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":""},"class_list":["post-1646","page","type-page","status-publish","hentry"],"yoast_head":"\nProjets actifs - CAN-ACT<\/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:\/\/can-act.org\/fr\/projets-actifs\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Projets actifs - CAN-ACT\" \/>\n<meta property=\"og:description\" content=\"Projets actifs Syndromes du tissu conjonctif et g\u00e9n\u00e9tique de l’aortopathie Dr Benedikt Hallgr\u00edmsson et al.Universit\u00e9 de Calgary Les personnes atteintes de maladies h\u00e9r\u00e9ditaires de l’aorte thoracique (MAHT) courent un risque important d’an\u00e9vrismes et de dissections aortiques. 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