{"id":982,"date":"2024-10-01T13:59:24","date_gmt":"2024-10-01T11:59:24","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-techniques-bioinformatiques-revelent-la-prevalence-cachee-des-troubles-de-lexpansion-repetee\/"},"modified":"2024-10-01T13:59:29","modified_gmt":"2024-10-01T11:59:29","slug":"les-techniques-bioinformatiques-revelent-la-prevalence-cachee-des-troubles-de-lexpansion-repetee","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-techniques-bioinformatiques-revelent-la-prevalence-cachee-des-troubles-de-lexpansion-repetee\/","title":{"rendered":"Les techniques bioinformatiques r\u00e9v\u00e8lent la pr\u00e9valence cach\u00e9e des troubles de l\u2019expansion r\u00e9p\u00e9t\u00e9e"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2024\/bioinformatics.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2024\/bioinformatics.jpg\" data-sub-html=\"Credit: Pixabay\/CC0 Public Domain\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Les recherches men\u00e9es par des scientifiques de l\u2019Universit\u00e9 Queen Mary de Londres annoncent une nouvelle \u00e8re pour le s\u00e9quen\u00e7age et les tests g\u00e9n\u00e9tiques. Dans la plus grande \u00e9tude de ce type \u00e0 ce jour, publi\u00e9e aujourd&rsquo;hui dans <i>M\u00e9decine naturelle<\/i>un groupe international de chercheurs dirig\u00e9 par Queen Mary a utilis\u00e9 de nouvelles techniques bioinformatiques pour analyser les profils g\u00e9n\u00e9tiques de 80 000 personnes afin de comprendre la fr\u00e9quence des expansions sp\u00e9cifiques de courtes s\u00e9quences d&rsquo;ADN r\u00e9p\u00e9titives dans la population g\u00e9n\u00e9rale.<\/p>\n<p>Ces expansions sont la cause la plus fr\u00e9quente de maladies neurologiques h\u00e9r\u00e9ditaires, connues sous le nom de troubles d&rsquo;expansion r\u00e9p\u00e9t\u00e9e (RED). Les r\u00e9sultats de l&rsquo;\u00e9tude ont montr\u00e9 que les RED sont jusqu&rsquo;\u00e0 trois fois plus fr\u00e9quentes que les estimations actuelles, bas\u00e9es sur l&rsquo;observation clinique ou le diagnostic de la maladie. Il a \u00e9galement \u00e9t\u00e9 constat\u00e9 que leur fr\u00e9quence est commune entre diff\u00e9rentes populations.<\/p>\n<p>Le Dr Arianna Tucci, lectrice clinique en m\u00e9decine g\u00e9nomique \u00e0 l&rsquo;Universit\u00e9 Queen Mary de Londres qui a dirig\u00e9 la recherche, a d\u00e9clar\u00e9 : \u00ab Cette avanc\u00e9e tr\u00e8s importante pourrait indiquer que les RED comme la maladie de Huntington sont pr\u00e8s de trois fois plus courantes que nous le pensons, ce qui signifie que nous sommes sous-diagnostiqu\u00e9s. ces conditions.<\/p>\n<p>\u00a0\u00bb Alternativement, la pr\u00e9sence de certaines r\u00e9p\u00e9titions d&rsquo;ADN peut ne pas conduire \u00e0 la maladie chez certaines personnes. Cela pourrait annoncer un changement majeur dans notre fa\u00e7on de penser les tests g\u00e9n\u00e9tiques, le profilage et le conseil.<\/p>\n<p>\u00ab\u00a0Ces r\u00e9sultats n&rsquo;ont \u00e9t\u00e9 possibles que parce que nous sommes capables d&rsquo;\u00e9tudier des g\u00e9nomes entiers du projet 100 000 Genomes chez de nombreux individus \u00e0 grande \u00e9chelle. Cela repr\u00e9sente un changement de paradigme depuis les \u00e9tudes traditionnelles de petites familles ayant des ant\u00e9c\u00e9dents de maladie g\u00e9n\u00e9tique vers l&rsquo;analyse de grandes populations de individus.<\/p>\n<p>\u00ab\u00a0Nos prochaines \u00e9tapes consisteront \u00e0 \u00e9tudier de grandes cohortes de personnes porteuses de ces changements g\u00e9n\u00e9tiques, pour nous aider \u00e0 mieux comprendre ce qui les am\u00e8ne \u00e0 se d\u00e9velopper chez certains individus.\u00a0\u00bb<\/p>\n<p>Le Dr Sarah Tabrizi, professeur de neurologie clinique \u00e0 l&rsquo;Institut de neurologie UCL Queen Square et co-auteur de l&rsquo;article, a d\u00e9clar\u00e9 : \u00ab Ces r\u00e9sultats sont extr\u00eamement importants. Ces donn\u00e9es nous obligeront en tant que communaut\u00e9 de chercheurs, d&rsquo;universitaires et de m\u00e9decins \u00e0 \u00e9valuer si ces r\u00e9p\u00e9titions d&rsquo;ADN r\u00e9pondent \u00e0 un besoin diagnostique non satisfait dans les maladies neurologiques rares, ce qui signifie que l&rsquo;investigation des troubles d&rsquo;expansion r\u00e9p\u00e9t\u00e9e m\u00e9rite d\u00e9sormais une attention beaucoup plus particuli\u00e8re.<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Les recherches men\u00e9es par des scientifiques de l\u2019Universit\u00e9 Queen Mary de Londres annoncent une nouvelle<\/p>\n","protected":false},"author":1,"featured_media":983,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[1268,1270,16,49,1271,1269,1272,149,1267,164],"class_list":["post-982","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-bioinformatiques","tag-cachee","tag-des","tag-les","tag-lexpansion","tag-prevalence","tag-repetee","tag-revelent","tag-techniques","tag-troubles","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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