{"id":1464,"date":"2024-10-20T15:05:01","date_gmt":"2024-10-20T13:05:01","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/lapproche-dedition-genetique-aide-a-lancer-le-premier-essai-clinique-sur-lhomme-pour-une-maladie-genetique-rare\/"},"modified":"2024-10-20T15:05:11","modified_gmt":"2024-10-20T13:05:11","slug":"lapproche-dedition-genetique-aide-a-lancer-le-premier-essai-clinique-sur-lhomme-pour-une-maladie-genetique-rare","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/lapproche-dedition-genetique-aide-a-lancer-le-premier-essai-clinique-sur-lhomme-pour-une-maladie-genetique-rare\/","title":{"rendered":"L\u2019approche d\u2019\u00e9dition g\u00e9n\u00e9tique aide \u00e0 lancer le premier essai clinique sur l\u2019homme pour une maladie g\u00e9n\u00e9tique rare"},"content":{"rendered":"
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Un effort de collaboration entre des chercheurs de l’Institut national des allergies et des maladies infectieuses (NIAID) des National Institutes of Health et du Massachusetts General Hospital (MGH) d\u00e9montre le potentiel de technologies pr\u00e9cises d’\u00e9dition du g\u00e9nome, appel\u00e9es \u00e9diteurs de bases d’ad\u00e9nine, pour corriger les mutations pathog\u00e8nes dans la tige. cellules provenant de patients atteints de la maladie granulomateuse chronique li\u00e9e \u00e0 l’X (X-CGD), une maladie g\u00e9n\u00e9tique rare caract\u00e9ris\u00e9e par une forte susceptibilit\u00e9 aux infections.<\/p>\n

Les r\u00e9sultats sont publi\u00e9s dans M\u00e9decine translationnelle scientifique<\/i>.<\/p>\n

Les patients atteints de X-CGD pr\u00e9sentent des infections invasives r\u00e9currentes, une hyperinflammation et une maladie inflammatoire de l’intestin, avec une morbidit\u00e9 accrue et une mortalit\u00e9 pr\u00e9coce. L\u2019\u00e9quipe de recherche a cherch\u00e9 \u00e0 optimiser les approches d\u2019\u00e9dition g\u00e9n\u00e9tique pour corriger les mutations X-CGD et d\u00e9velopper un traitement s\u00fbr et efficace pour cette maladie.<\/p>\n

L’\u00e9tude, dirig\u00e9e par les co-premiers auteurs Vera Bzhilyanskaya, boursi\u00e8re post-baccalaur\u00e9at au NIAID, et le chercheur postdoctoral Linyuan Ma, Ph.D., au MGH, est n\u00e9e d’une collaboration de longue date entre les laboratoires de Suk See De Ravin. , MD, Ph.D., m\u00e9decin chercheur principal et chef de l’unit\u00e9 de d\u00e9veloppement de th\u00e9rapie g\u00e9nique au NIAID, et Benjamin Kleinstiver, Ph.D., chercheur au Centre de m\u00e9decine g\u00e9nomique et au D\u00e9partement de pathologie du MGH, et Kayden -Boursier de recherche Lambert MGH.<\/p>\n

\u00ab\u00a0Nous sommes enthousiasm\u00e9s par l’utilisation de l’\u00e9dition de bases pour corriger directement les mutations, car cette approche se distingue des th\u00e9rapies g\u00e9niques traditionnelles qui surexpriment un g\u00e8ne correcteur\u00a0\u00bb, a d\u00e9clar\u00e9 Kleinstiver. \u00ab\u00a0Nos r\u00e9sultats d\u00e9montrent comment les capacit\u00e9s am\u00e9lior\u00e9es des enzymes CRISPR-Cas9 peuvent \u00eatre b\u00e9n\u00e9fiques et motivent ensemble des \u00e9tudes suppl\u00e9mentaires utilisant des \u00e9diteurs de base pour corriger d’autres mutations qui provoquent des erreurs inn\u00e9es d’immunit\u00e9 et d’autres maladies.\u00a0\u00bb<\/p>\n

Dans leurs recherches, les laboratoires De Ravin et Kleinstiver et leurs coll\u00e8gues ont pr\u00e9lev\u00e9 des cellules souches et prog\u00e9nitrices h\u00e9matopo\u00ef\u00e9tiques de deux patients pr\u00e9sentant diff\u00e9rentes mutations provoquant la X-CGD, puis ont trait\u00e9 les cellules avec divers \u00e9diteurs de bases d’ad\u00e9nine pour corriger l’une ou l’autre mutation du g\u00e8ne CYBB. Les cellules prog\u00e9nitrices sont des cellules souches pr\u00e9sentes dans la moelle osseuse qui peuvent s’auto-renouveler et se diff\u00e9rencier en cellules sanguines matures. L\u2019approche s\u2019est r\u00e9v\u00e9l\u00e9e tr\u00e8s efficace, avec une efficience plus de 3,5 fois sup\u00e9rieure \u00e0 celle des approches pr\u00e9c\u00e9dentes et avec des effets hors cible minimes.<\/p>\n

Les scientifiques ont not\u00e9 que les \u00e9diteurs de bases d’ad\u00e9nine pourraient surmonter bon nombre des d\u00e9fis associ\u00e9s \u00e0 d’autres approches de th\u00e9rapie g\u00e9nique, car le traitement est mieux tol\u00e9r\u00e9 par les cellules que les approches bas\u00e9es sur la nucl\u00e9ase Cas9, puisque les \u00e9diteurs de bases permettent de corriger la s\u00e9quence g\u00e9nomique native sans introduire de fa\u00e7on permanente de nouveaux g\u00e8nes. mat\u00e9riel dans les cellules (les risques pourraient donc \u00eatre r\u00e9duits par rapport aux th\u00e9rapies g\u00e9niques bas\u00e9es sur les lentivirus), et gr\u00e2ce aux enzymes CRISPR-Cas9 tr\u00e8s flexibles, ils peuvent acc\u00e9der \u00e0 un plus grand nombre de sites cibles et peuvent donc en principe corriger de nombreuses mutations g\u00e9n\u00e9tiques diff\u00e9rentes.<\/p>\n

Sur la base des d\u00e9couvertes de l’\u00e9quipe, un premier essai clinique chez l’homme est actuellement en cours pour tester les avantages potentiels des traitements par cellules souches \u00e9dit\u00e9es par des bases chez les patients atteints de X-CGD.<\/p>\n

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Un effort de collaboration entre des chercheurs de l’Institut national des allergies et des maladies<\/p>\n","protected":false},"author":1,"featured_media":1465,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[311,733,1838,732,944,865,1699,1060,248,8,322,736,112,47],"class_list":["post-1464","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-aide","tag-clinique","tag-dedition","tag-essai","tag-genetique","tag-lancer","tag-lapproche","tag-lhomme","tag-maladie","tag-pour","tag-premier","tag-rare","tag-sur","tag-une","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nL\u2019approche d\u2019\u00e9dition g\u00e9n\u00e9tique aide \u00e0 lancer le premier essai clinique sur l\u2019homme pour une maladie g\u00e9n\u00e9tique rare - RVH-Synergie.org<\/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:\/\/rvh-synergie.org\/actualites\/lapproche-dedition-genetique-aide-a-lancer-le-premier-essai-clinique-sur-lhomme-pour-une-maladie-genetique-rare\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L\u2019approche d\u2019\u00e9dition g\u00e9n\u00e9tique aide \u00e0 lancer le premier essai clinique sur l\u2019homme pour une maladie g\u00e9n\u00e9tique rare - 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