{"id":2222540,"date":"2026-10-27T00:00:00","date_gmt":"2026-10-26T21:00:00","guid":{"rendered":"https:\/\/analyse.optim.biz\/?p=2222540"},"modified":"2026-10-27T00:00:00","modified_gmt":"2026-10-26T21:00:00","slug":"cercetatorii-din-australia-au-descoperit-un-nou-tratament-potential-pentru-o-boala-genetica-rara","status":"publish","type":"post","link":"https:\/\/analyse.optim.biz\/?p=2222540","title":{"rendered":"Cercet\u0103torii din Australia au descoperit un nou tratament poten\u021bial pentru o boal\u0103 genetic\u0103 rar\u0103"},"content":{"rendered":"

[analyse_image type=”featured” src=”https:\/\/agerpres.ro\/data\/202610\/20261027182638_892857.jpg”]<\/p>\n

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Cercet\u0103torii din Australia au descoperit o modalitate de a debloca o ‘fr\u00e2n\u0103 genetic\u0103’ ce inactiveaz\u0103 genele s\u0103n\u0103toase \u00een cazul sindromului Prader-Willi, deschiz\u00e2nd astfel o posibil\u0103 nou\u0103 cale pentru tratarea acestei boli genetice rare, informeaz\u0103 agen\u021bia de pres\u0103 Xinhua.<\/strong><\/p>\n

Oamenii de \u0219tiin\u021b\u0103 de la Institutul de Cercet\u0103ri Medicale Walter & Eliza Hall (WEHI) din ora\u0219ul australian Melbourne au descoperit c\u0103 eliminarea proteinei denumite SMCHD1 a deblocat o ‘fr\u00e2n\u0103 genetic\u0103’, permi\u021b\u00e2ndu-le genelor s\u0103n\u0103toase, dar latente, s\u0103 redevin\u0103 active, potrivit unui comunicat de pres\u0103 publicat mar\u021bi de WEHI.<\/p>\n

\u00cen cazul sindromului Prader-Willi, acea protein\u0103 dezactiveaz\u0103 anumite gene care sunt esen\u021biale pentru dezvoltarea \u0219i func\u021bionarea creierului, contribuind la \u00eent\u00e2rziere de dezvoltare, dizabilitate intelectual\u0103 \u0219i un apetit insa\u021biabil, cel din urm\u0103 put\u00e2nd duce la obezitate.<\/p>\n

Aproximativ 400.000 de persoane din \u00eentreaga lume tr\u0103iesc cu aceast\u0103 afec\u021biune, precizeaz\u0103 acela\u0219i comunicat.<\/p>\n

Noul studiu, publicat \u00een revista Science Advances, a utilizat tehnologia de editare genetic\u0103 CRISPR, celule stem \u0219i tehnologii genomice pentru a examina efectele provocate de eliminarea genei SMCHD1 \u00een celulele provenite de la pacien\u021bi \u0219i \u00een modele animale.<\/p>\n

Tratamentele actuale vizeaz\u0103, \u00een principal, doar simptomele, nu \u0219i cauza fundamental\u0103 a bolii, necesit\u00e2nd adeseori administrarea mai multor medicamente, interven\u021bii chirurgicale \u0219i \u00eengrijire de specialitate, \u00eens\u0103 ofer\u0103 o ameliorare limitat\u0103, au precizat cercet\u0103torii australieni.<\/p>\n

Ei au ad\u0103ugat c\u0103 noi terapii poten\u021biale, care vizeaz\u0103 cauza sindromului Prader-Willi, se afl\u0103 \u00een prezent \u00een stadii de dezvoltare prin intermediul unei companii desprinse din institutul WEHI. AGERPRES\/(AS – redactor: Florin B\u0103descu, editor online: Simona Aru\u015ftei)<\/p>\n<\/div>\n

\n Afisari: 148\n <\/div>\n

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[analyse_image type=”featured” src=”https:\/\/agerpres.ro\/data\/202610\/20261027182638_892857.jpg”] Cercet\u0103torii din Australia au descoperit o modalitate de a debloca o ‘fr\u00e2n\u0103 genetic\u0103’ ce inactiveaz\u0103 genele s\u0103n\u0103toase \u00een cazul sindromului Prader-Willi, deschiz\u00e2nd astfel o posibil\u0103 nou\u0103 cale pentru tratarea acestei boli genetice rare, informeaz\u0103 agen\u021bia de pres\u0103 Xinhua. Oamenii de \u0219tiin\u021b\u0103 de la Institutul de Cercet\u0103ri Medicale Walter & Eliza Hall (WEHI) […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[37],"class_list":["post-2222540","post","type-post","status-publish","format-standard","hentry","category-politics","tag-agerpres-ro"],"_links":{"self":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/2222540","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2222540"}],"version-history":[{"count":0,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/2222540\/revisions"}],"wp:attachment":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2222540"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=2222540"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=2222540"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}