Mjek\u00ebt n\u00eb Shtetet e Bashkuara kan\u00eb realizuar nj\u00eb arritje historike n\u00eb mjek\u00ebsi duke trajtuar me sukses nj\u00eb foshnj\u00eb me nj\u00eb \u00e7rregullim t\u00eb rrall\u00eb dhe t\u00eb r\u00ebnd\u00eb gjenetik p\u00ebrmes nj\u00eb terapie t\u00eb personalizuar t\u00eb redaktimit t\u00eb gjeneve.
Rasti i KJ: Nj\u00eb trajtim i par\u00eb n\u00eb llojin e vet
Foshnja, e njohur si KJ, u diagnostikua me nj\u00eb form\u00eb t\u00eb r\u00ebnd\u00eb t\u00eb munges\u00ebs s\u00eb enzim\u00ebs carbamoyl phosphate synthetase 1 (CPS1), nj\u00eb \u00e7rregullim metabolik q\u00eb ndikon n\u00eb ciklin e ure\u00ebs dhe mund t\u00eb \u00e7oj\u00eb n\u00eb nivele toksike t\u00eb amoniakut n\u00eb gjak. Kjo gjendje prek rreth nj\u00eb n\u00eb 1.3 milion\u00eb foshnja dhe shpesh \u00ebsht\u00eb fatale n\u00eb muajt e par\u00eb t\u00eb jet\u00ebs.<\/p>\n\n\n\n
Terapia e personalizuar me redaktim bazash
Ekipi mjek\u00ebsor n\u00eb Spitalin e F\u00ebmij\u00ebve t\u00eb Filadelfias dhe Universitetin e Pensilvanis\u00eb zhvilloi nj\u00eb terapi t\u00eb personalizuar duke p\u00ebrdorur teknik\u00ebn e redaktimit t\u00eb bazave (base editing), e cila lejon korrigjimin preciz t\u00eb mutacioneve gjenetike pa prer\u00eb ADN-n\u00eb. Kjo terapi u krijua, testua dhe u administrua brenda gjasht\u00eb muajve, nj\u00eb koh\u00eb jasht\u00ebzakonisht e shkurt\u00ebr p\u00ebr zhvillimin e nj\u00eb trajtimi t\u00eb tille.
KJ mori tre doza t\u00eb terapis\u00eb p\u00ebrmes infuzioneve intravenoze n\u00eb periudh\u00ebn shkurt-prill 2025. Pas trajtimit, ai tregoi p\u00ebrmir\u00ebsime t\u00eb dukshme n\u00eb sh\u00ebndet, duke p\u00ebrfshir\u00eb rritje n\u00eb pesh\u00eb dhe reduktim t\u00eb nevoj\u00ebs p\u00ebr medikamente.
Impakt global dhe perspektiva t\u00eb reja
Ky rast p\u00ebrfaq\u00ebson nj\u00eb hap t\u00eb madh drejt terapive gjenetike t\u00eb personalizuara p\u00ebr s\u00ebmundjet e rralla. Ekspert\u00ebt besojn\u00eb se kjo qasje mund t\u00eb hap\u00eb rrug\u00ebn p\u00ebr trajtime t\u00eb ngjashme p\u00ebr miliona pacient\u00eb q\u00eb vuajn\u00eb nga \u00e7rregullime gjenetike t\u00eb rralla .
Megjith\u00ebse KJ do t\u00eb k\u00ebrkoj\u00eb monitorim t\u00eb vazhduesh\u00ebm gjat\u00eb jet\u00ebs s\u00eb tij, suksesi i k\u00ebtij trajtimi ofron shpres\u00eb p\u00ebr nj\u00eb t\u00eb ardhme ku s\u00ebmundjet gjenetike mund t\u00eb trajtohen n\u00eb m\u00ebnyr\u00eb efektive q\u00eb n\u00eb fazat e hershme t\u00eb jet\u00ebs.<\/p>\n","protected":false},"excerpt":{"rendered":"
Mjek\u00ebt n\u00eb Shtetet e Bashkuara kan\u00eb realizuar nj\u00eb arritje historike n\u00eb mjek\u00ebsi duke trajtuar me sukses nj\u00eb foshnj\u00eb me nj\u00eb \u00e7rregullim t\u00eb rrall\u00eb dhe t\u00eb r\u00ebnd\u00eb gjenetik p\u00ebrmes nj\u00eb terapie t\u00eb personalizuar t\u00eb redaktimit t\u00eb gjeneve. Rasti i KJ: Nj\u00eb trajtim i par\u00eb n\u00eb llojin e vetFoshnja, e njohur si KJ, u diagnostikua me nj\u00eb […]<\/p>\n","protected":false},"author":2,"featured_media":58947,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[39],"tags":[],"class_list":{"0":"post-58948","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-aktualitet"},"yoast_head":"\n