{"id":11647,"date":"2014-06-22T06:45:36","date_gmt":"2014-06-22T06:45:36","guid":{"rendered":"https:\/\/clone.arsacs.com\/financement-des-travaux-de-recherche-du-dre-paola-giunti\/"},"modified":"2021-07-20T14:41:51","modified_gmt":"2021-07-20T18:41:51","slug":"financement-des-travaux-de-recherche-du-dre-paola-giunti","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/financement-des-travaux-de-recherche-du-dre-paola-giunti\/","title":{"rendered":"Financement des travaux de recherche du Dre Paola Giunti"},"content":{"rendered":"<p>La Fondation est heureuse d&#8217;annoncer qu&#8217;elle financera les travaux de recherche du Dre Paola Giunti (ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, Londres, Royaume-Uni) dans le cadre de son programme de financement de la recherche. Ses travaux intitul\u00e9s &#8220;Design and Validation of a Custom Amplicon Panel for the Diagnosis of ARSACS and other Spastic Ataxias&#8221; serviront \u00e0 diagnostiquer l&#8217;ARSACS de fa\u00e7on plus efficace et \u00e0 moindre co\u00fbt.R\u00e9sum\u00e9 du projet de recherche:<\/p>\n<p>L&#8217;ARSACS a \u00e9t\u00e9 d\u00e9crite en Europe, Afrique du Nord, Turquie, Japon et au Br\u00e9sil. \u00c0 ce jour, les tests g\u00e9n\u00e9tiques pour identifier les patients ARSACS sont dispendieux, prennent du temps et, par cons\u00e9quent ne sont offerts que dans des centres sp\u00e9cialis\u00e9s ou de recherche au Royaume-Uni. Il existe donc un besoin pressant pour un test de diagnostic rapide, moins cher et plus disponible. Dre Giunti et d&#8217;autres groupes ont prouv\u00e9 que la couche de fibres nerveuses r\u00e9tiniennes (CFNR), telle que mesur\u00e9e par tomographie en coh\u00e9rence optique (OCT) est \u00e9paissie dans le cas de l&#8217;ARSACS, contrairement \u00e0 la plupart des autres maladies neurod\u00e9g\u00e9n\u00e9ratives dont la CFNR est normale ou amincie. Son projet est de d\u00e9velopper un panel d&#8217;amplicon personnalis\u00e9 pour les ataxies spastiques qui permettra le diagnostic de l&#8217; ARSACS et pourra \u00eatre utilis\u00e9 pour un diagnostic plus g\u00e9n\u00e9ral dans les cas d&#8217;ataxie spastique. Il est pr\u00e9vu que, en cas de succ\u00e8s de cette validation, cela deviendra une proc\u00e9dure de routine dans le laboratoire de neurog\u00e9n\u00e9tique de l&#8217;UCL \/ UCLH. Elle va alors utiliser le panel d&#8217; amplicon pour \u00e9valuer des patients atteints de l&#8217;ataxie qui ont d\u00e9j\u00e0 subi un OCT scanning. Cela permettra \u00e0 son \u00e9quipe d&#8217;\u00e9valuer la sensibilit\u00e9 et la sp\u00e9cificit\u00e9 de l&#8217;OCT dans le diagnostic de l&#8217;ARSACS.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La Fondation est heureuse d&#8217;annoncer qu&#8217;elle financera les travaux de recherche du Dre Paola Giunti (ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, Londres, Royaume-Uni) dans le cadre de son programme de financement de la recherche. Ses travaux intitul\u00e9s &#8220;Design and Validation of a Custom Amplicon Panel for the Diagnosis of ARSACS [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"categories":[17],"tags":[],"class_list":["post-11647","post","type-post","status-publish","format-standard","hentry","category-recherche-2014"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Financement des travaux de recherche du Dre Paola Giunti - ARSACS<\/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:\/\/arsacs.com\/fr\/financement-des-travaux-de-recherche-du-dre-paola-giunti\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Financement des travaux de recherche du Dre Paola Giunti - ARSACS\" \/>\n<meta property=\"og:description\" content=\"La Fondation est heureuse d&#8217;annoncer qu&#8217;elle financera les travaux de recherche du Dre Paola Giunti (ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, Londres, Royaume-Uni) dans le cadre de son programme de financement de la recherche. 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