{"id":17466,"date":"2018-12-13T14:16:39","date_gmt":"2018-12-13T13:16:39","guid":{"rendered":"https:\/\/www.chu-poitiers.fr\/?p=17466"},"modified":"2021-04-20T18:06:23","modified_gmt":"2021-04-20T16:06:23","slug":"aurore-brun-conseillere-en-genetique","status":"publish","type":"post","link":"https:\/\/www.chu-poitiers.fr\/en\/aurore-brun-conseillere-en-genetique\/","title":{"rendered":"Aurore Brun, conseill\u00e8re en g\u00e9n\u00e9tique"},"content":{"rendered":"<p><span style=\"color: #333399;\"><strong>Pouvez-vous nous d\u00e9crire le service de g\u00e9n\u00e9tique clinique ?<\/strong><\/span><br \/>\nLe service de g\u00e9n\u00e9tique se compose de neuf personnes : trois m\u00e9decins, deux conseill\u00e8res en g\u00e9n\u00e9tique, une psychologue clinicienne, une neuropsychologue et deux secr\u00e9taires. Les m\u00e9decins essayent de poser un diagnostic en cherchant des signes morphologiques particuliers et en demandant des analyses g\u00e9n\u00e9tiques. Nous, les conseill\u00e8res, voyons le plus souvent des apparent\u00e9s, lorsqu\u2019une anomalie g\u00e9n\u00e9tique a \u00e9t\u00e9 pr\u00e9alablement identifi\u00e9e dans la famille. La psychologue s\u2019entretien avec les familles dans le cadre du d\u00e9pistage des maladies car les annonces peuvent \u00eatre une \u00e9preuve pour ces derni\u00e8res. La neuropsychologue effectue des \u00e9valuations des capacit\u00e9s cognitives, qui peuvent aider \u00e0 orienter le diagnostic et la prise en charge.<\/p>\n<p><span style=\"color: #333399;\"><strong>Tr\u00e8s simplement, qu\u2019est ce qu\u2019une maladie g\u00e9n\u00e9tique ?<\/strong><\/span><br \/>\nCe que l\u2019on appelle maladie g\u00e9n\u00e9tique regroupe les maladies g\u00e9n\u00e9tiques li\u00e9es \u00e0 une anomalie dans un g\u00e8ne. Ces maladies peuvent \u00eatre h\u00e9rit\u00e9e d\u2019un parent, ou bien \u00eatre apparue nouvellement comme la myopathie de Duchenne. On retrouve aussi les pathologies chromosomiques ou il s\u2019agit d\u2019un chromosome en plus ou en moins, ou, mal rang\u00e9 telle que la trisomie 21. L\u2019anomalie g\u00e9n\u00e9tique est pr\u00e9sente d\u00e8s la f\u00e9condation, mais selon la maladie g\u00e9n\u00e9tique, les sympt\u00f4mes peuvent appara\u00eetre \u00e0 diff\u00e9rents moment de la vie.<\/p>\n<p><span style=\"color: #333399;\"><strong>Quel est votre r\u00f4le dans le service ?<\/strong><\/span><br \/>\nJ\u2019assure des consultations avec au besoin prescription d\u2019analyses g\u00e9n\u00e9tiques sous la d\u00e9l\u00e9gation des m\u00e9decins g\u00e9n\u00e9ticiens dans plusieurs domaines. Il y a tout d\u2019abord le diagnostic pr\u00e9natal avec<br \/>\nles explications aux femmes enceintes des analyses g\u00e9n\u00e9tiques propos\u00e9es lorsqu\u2019une malformation foetale a \u00e9t\u00e9 mise en \u00e9vidence \u00e0 l\u2019\u00e9chographie. Ensuite, la g\u00e9n\u00e9tique m\u00e9dicale dans le cadre d\u2019enqu\u00eate familiale lorsqu\u2019une anomalie g\u00e9n\u00e9tique est connue dans la famille telle que la mucoviscidose. Vient la neurog\u00e9n\u00e9tique avec les tests pr\u00e9symptomatiques visant \u00e0 proposer \u00e0 une personne en bonne sant\u00e9 de rechercher l\u2019anomalie g\u00e9n\u00e9tique familiale qui entraine une maladie le plus souvent \u00e0 r\u00e9v\u00e9lation tardive comme la maladie de Huntington. Il y a, aussi, l\u2019oncog\u00e9n\u00e9tique (propositions d\u2019analyses g\u00e9n\u00e9tiques lorsque l\u2019histoire personnelle et familiale est \u00e9vocatrice d\u2019une pr\u00e9disposition aux cancers. Enfin, la cardiog\u00e9n\u00e9tique entra\u00eene une proposition d\u2019analyse g\u00e9n\u00e9tique lorsque l\u2019histoire personnelle et familiale est \u00e9vocatrice d\u2019une pr\u00e9disposition familiale \u00e0 une cardiopathie d\u2019origine g\u00e9n\u00e9tique comme le syndrome de Brugada et les cardiomyopathies<br \/>\nhypertrophiques.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Originaire de Lyon, Aurore Brun est conseill\u00e8re en g\u00e9n\u00e9tique, au sein du service de g\u00e9n\u00e9tique du Pr Brigitte Gilbert-Dussardier. En 2009, la jeune\u2026","protected":false},"author":1,"featured_media":17465,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-17466","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Aurore Brun, conseill\u00e8re en g\u00e9n\u00e9tique - Site du CHU de Poitiers<\/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:\/\/www.chu-poitiers.fr\/aurore-brun-conseillere-en-genetique\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Aurore Brun, conseill\u00e8re en g\u00e9n\u00e9tique - Site du CHU de Poitiers\" \/>\n<meta property=\"og:description\" content=\"Originaire de Lyon, Aurore Brun est conseill\u00e8re en g\u00e9n\u00e9tique, au sein du service de g\u00e9n\u00e9tique du Pr Brigitte Gilbert-Dussardier. En 2009, la jeune femme sort dipl\u00f4m\u00e9e d\u2019une licence de biologie \u00e0 Bordeaux. L\u2019ann\u00e9e suivante, elle obtient un M1 de g\u00e9n\u00e9tique mol\u00e9culaire et cellulaire. Aurore Brun part \u00e0 Marseille pour int\u00e9grer le cursus du master sp\u00e9cialit\u00e9 \u00ab Conseil en g\u00e9n\u00e9tique et m\u00e9decine pr\u00e9dictive \u00bb. 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