{"id":17439,"date":"2026-06-17T20:10:46","date_gmt":"2026-06-17T18:10:46","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-medecins-remplacent-un-gene-defectueux-dans-le-cerveau-dun-bebe\/"},"modified":"2026-06-17T20:10:47","modified_gmt":"2026-06-17T18:10:47","slug":"les-medecins-remplacent-un-gene-defectueux-dans-le-cerveau-dun-bebe","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-medecins-remplacent-un-gene-defectueux-dans-le-cerveau-dun-bebe\/","title":{"rendered":"Les m\u00e9decins remplacent un g\u00e8ne d\u00e9fectueux dans le cerveau d&rsquo;un b\u00e9b\u00e9"},"content":{"rendered":"<p><!--$--><\/p>\n<div data-hk=\"0000a104212000a22200\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Un b\u00e9b\u00e9 de huit mois atteint d\u2019une maladie g\u00e9n\u00e9tique rare et grave a re\u00e7u un nouveau traitement. Il n\u2019existe actuellement aucun rem\u00e8de pour les enfants atteints de cette maladie.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a22210\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les m\u00e9decins isra\u00e9liens ont tent\u00e9 pour la premi\u00e8re fois de s\u2019attaquer directement \u00e0 la cause de la maladie. Ils ont introduit une version saine du g\u00e8ne affect\u00e9 dans les cellules du cerveau.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a22220\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>L\u2019approche s\u2019appuie sur plus de dix ann\u00e9es de recherche. Cela laisse esp\u00e9rer qu\u2019\u00e0 l\u2019avenir, des th\u00e9rapies cibl\u00e9es pourront \u00e9galement \u00eatre d\u00e9velopp\u00e9es pour des maladies h\u00e9r\u00e9ditaires extr\u00eamement rares.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222304\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor Ad-Slot-FC\">\n<div class=\"Ad-Slot-FC-Container\">\n<div class=\"Ad-Slot-FC-Window\">\n<div id=\"ad-slot-mobile-hor-2\" data-orientation=\"hor\" data-index=\"2\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/div>\n<\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a22240\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<h2>Le syndrome WOREE entra\u00eene de graves convulsions<\/h2>\n<p>Le b\u00e9b\u00e9 a \u00e9t\u00e9 soign\u00e9 au centre m\u00e9dical pour enfants Schneider en Isra\u00ebl. Six semaines seulement apr\u00e8s sa naissance, elle avait d\u00e9velopp\u00e9 de graves crises d&rsquo;\u00e9pilepsie. Les tests g\u00e9n\u00e9tiques ont finalement conduit au diagnostic du syndrome WOREE : une maladie h\u00e9r\u00e9ditaire rare pouvant entra\u00eener de graves troubles du d\u00e9veloppement et une \u00e9pilepsie pharmacor\u00e9sistante.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a22250\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>WOREE est caus\u00e9 par des modifications du g\u00e8ne WWOX. Ce g\u00e8ne est important pour le d\u00e9veloppement normal du cerveau.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222604\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-out\">\n<div id=\"ad-slot-mobile-out-1\" data-orientation=\"out\" data-index=\"1\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a22270\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les enfants atteints semblent g\u00e9n\u00e9ralement en bonne sant\u00e9 \u00e0 la naissance. Cependant, des convulsions graves surviennent souvent en quelques semaines. Dans le m\u00eame temps, de graves probl\u00e8mes de d\u00e9veloppement surviennent : de nombreux enfants n\u2019apprennent plus tard \u00e0 parler ou \u00e0 s\u2019asseoir de mani\u00e8re autonome.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a22280\" class=\"Ad-Row\">\n<div class=\"Ad-Col col-lg-5\">\n<div data-hk=\"0000a104212000a2228104\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-desktop Ad-Slot-ver\" role=\"region\" aria-label=\"Anzeige 1\">\n<div id=\"ad-slot-desktop-ver-1\" data-orientation=\"ver\" data-index=\"1\" data-slot=\"ad-slot\" data-device=\"desktop\"><\/div>\n<\/div>\n<\/div>\n<div class=\"Ad-Col col-lg-5\">\n<aside data-hk=\"0000a104212000a2228204\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-desktop Ad-Slot-ver Ad-Slot-FC\">\n<div class=\"Ad-Slot-FC-Container\">\n<div class=\"Ad-Slot-FC-Window\">\n<div id=\"ad-slot-desktop-ver-2\" data-orientation=\"ver\" data-index=\"2\" data-slot=\"ad-slot\" data-device=\"desktop\"><\/div>\n<\/div>\n<\/div>\n<\/aside>\n<\/div>\n<\/div>\n<div data-hk=\"0000a104212000a22290\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Jusqu\u2019\u00e0 pr\u00e9sent, seuls 60 \u00e0 90 cas environ ont \u00e9t\u00e9 d\u00e9crits dans le monde. Pour les familles touch\u00e9es, le diagnostic signifie g\u00e9n\u00e9ralement que le traitement se limite \u00e0 soulager les sympt\u00f4mes.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a1004\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-3\" data-orientation=\"hor\" data-index=\"3\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a110\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<h2>Comment fonctionne la th\u00e9rapie g\u00e9nique<\/h2>\n<p>Il n\u2019y avait pratiquement aucune option de traitement pour le b\u00e9b\u00e9. C&rsquo;est pourquoi les m\u00e9decins ont opt\u00e9 pour une nouvelle approche qui s&rsquo;attaque directement \u00e0 la cause de la maladie. <\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a120\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les m\u00e9decins n\u2019ont pas retir\u00e9 le g\u00e8ne modifi\u00e9. Au lieu de cela, ils ont introduit une version saine dans les cellules du cerveau. Pour ce faire, ils ont utilis\u00e9 comme moyen de transport un virus rendu inoffensif.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a130\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Pour faire simple, le virus fournit aux cellules affect\u00e9es les instructions g\u00e9n\u00e9tiques manquantes. Cela permet aux cellules de produire les prot\u00e9ines n\u00e9cessaires au d\u00e9veloppement normal du cerveau.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a1404\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-4\" data-orientation=\"hor\" data-index=\"4\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a150\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>\u00ab Les familles nous demandent souvent : s\u2019il manque \u00e0 un enfant la version saine d\u2019un g\u00e8ne important, pourquoi ne pouvons-nous pas simplement la remplacer ? a expliqu\u00e9 la g\u00e9n\u00e9ticienne isra\u00e9lienne Naama Orenstein. \u00ab\u00a0Normalement, nous n&rsquo;avons pas de r\u00e9ponse \u00e0 cette question. Cette fois, nous avons pu la donner.\u00a0\u00bb<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a160\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<h2>Il y a des ann\u00e9es de recherche derri\u00e8re la proc\u00e9dure<\/h2>\n<p>Aussi spectaculaire que puisse para\u00eetre la nouvelle, l\u2019op\u00e9ration n\u2019\u00e9tait pas une tentative de sauvetage spontan\u00e9e.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a1704\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-5\" data-orientation=\"hor\" data-index=\"5\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a180\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les bases ont \u00e9t\u00e9 pos\u00e9es il y a des ann\u00e9es. Le biologiste mol\u00e9culaire Rami Aqeilan de l&rsquo;Universit\u00e9 h\u00e9bra\u00efque de J\u00e9rusalem a initialement \u00e9tudi\u00e9 le g\u00e8ne WWOX en relation avec le cancer. Au cours de ces recherches, son groupe a montr\u00e9 que le g\u00e8ne est \u00e9galement crucial pour le d\u00e9veloppement normal du cerveau.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a1904\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-desktop Ad-Slot-hor Ad-Slot-FC\">\n<div class=\"Ad-Slot-FC-Container\">\n<div class=\"Ad-Slot-FC-Window\">\n<div id=\"ad-slot-desktop-hor-2\" data-orientation=\"hor\" data-index=\"2\" data-slot=\"ad-slot\" data-device=\"desktop\"><\/div>\n<\/div>\n<\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a200\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les chercheurs ont ensuite d\u00e9velopp\u00e9 la th\u00e9rapie g\u00e9nique sur des mod\u00e8les animaux. Un seul traitement a r\u00e9duit les crises d\u2019\u00e9pilepsie, am\u00e9lior\u00e9 les anomalies neurologiques et prolong\u00e9 de mani\u00e8re significative la survie des animaux.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a2104\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-6\" data-orientation=\"hor\" data-index=\"6\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a220\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les r\u00e9sultats ont d\u00e9j\u00e0 \u00e9t\u00e9 publi\u00e9s en 2021. Des \u00e9tudes pr\u00e9cliniques r\u00e9centes ont confirm\u00e9 les effets positifs et ont permis de d\u00e9terminer le dosage le plus s\u00fbr.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a230\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<h2>Les premiers r\u00e9sultats donnent de l&rsquo;espoir<\/h2>\n<p>Un mois apr\u00e8s le traitement, le b\u00e9b\u00e9 est rest\u00e9 cliniquement stable, selon l&rsquo;\u00e9quipe soignante. Les graves crises qui avaient menac\u00e9 son d\u00e9veloppement et sa survie ne se sont pas reproduites au cours de cette p\u00e9riode.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a2404\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-7\" data-orientation=\"hor\" data-index=\"7\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a250\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les chercheurs appellent toutefois \u00e0 la prudence. Le traitement reste exp\u00e9rimental. Une observation plus approfondie doit montrer si la th\u00e9rapie est s\u00fbre \u00e0 long terme et combien de temps dure l&rsquo;effet. Les m\u00e9decins ne parlent donc pas encore de rem\u00e8de.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a260\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<h2>Pourquoi l&rsquo;affaire est importante bien au-del\u00e0 de WOREE<\/h2>\n<p>De nombreuses maladies h\u00e9r\u00e9ditaires rares ne touchent que quelques dizaines ou quelques centaines de personnes dans le monde. Pendant longtemps, ils ont \u00e9t\u00e9 consid\u00e9r\u00e9s comme trop rares pour d\u00e9velopper des th\u00e9rapies cibl\u00e9es.<\/p>\n<\/div>\n<aside data-hk=\"0000a104212000a222a2704\" data-qa-ad-slot class=\"Ad-Slot Ad-Slot-mobile Ad-Slot-hor\">\n<div id=\"ad-slot-mobile-hor-8\" data-orientation=\"hor\" data-index=\"8\" data-slot=\"ad-slot\" data-device=\"mobile\"><\/div>\n<\/aside>\n<div data-hk=\"0000a104212000a222a280\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Le cas actuel montre que cette fa\u00e7on de penser est d\u00e9j\u00e0 en train de changer. Au lieu de d\u00e9velopper des m\u00e9dicaments exclusivement pour de grands groupes de patients, les chercheurs travaillent de plus en plus sur des approches adapt\u00e9es aux maladies g\u00e9n\u00e9tiques individuelles.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a290\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Les th\u00e9rapies g\u00e9niques pourraient ouvrir de nouvelles possibilit\u00e9s, notamment pour les maladies caus\u00e9es par une seule anomalie g\u00e9n\u00e9tique. Plus un tel traitement est pr\u00e9coce, meilleures sont les chances : de nombreuses maladies neurologiques d\u00e9butent au cours des premi\u00e8res semaines de la vie, bien avant qu&rsquo;un diagnostic ne soit pos\u00e9.<\/p>\n<\/div>\n<div data-hk=\"0000a104212000a222a300\" class=\"Html-Block\" data-qa-article-content-text data-text-milestone-block>\n<p>Pour les familles atteintes de WOREE, cela signifie pour la premi\u00e8re fois plus que l\u2019espoir d\u2019un soulagement des sympt\u00f4mes : les m\u00e9decins tentent d\u00e9sormais de traiter eux-m\u00eames la cause de la maladie.<\/p>\n<\/div>\n<p><!--\/--><br \/>\n<!--$--><br \/>\n<!--\/--><br \/>\n<!--$--><br \/>\n<!--\/--><br \/>\n<!--$--><br \/>\n<!--\/--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un b\u00e9b\u00e9 de huit mois atteint d\u2019une maladie g\u00e9n\u00e9tique rare et grave a re\u00e7u un<\/p>\n","protected":false},"author":1,"featured_media":17440,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[5949,585,44,1610,528,1617,49,2142,10119],"class_list":["post-17439","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-bebe","tag-cerveau","tag-dans","tag-defectueux","tag-dun","tag-gene","tag-les","tag-medecins","tag-remplacent","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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