{"id":6449,"date":"2023-04-04T11:34:00","date_gmt":"2023-04-04T11:34:00","guid":{"rendered":"https:\/\/genekor.dermtherapy.gr\/2023\/12\/11\/the-evolution-of-comprehensive-genetic-analysis-in-neurology-implications-for-precision-medicine\/"},"modified":"2023-12-19T14:50:13","modified_gmt":"2023-12-19T14:50:13","slug":"the-evolution-of-comprehensive-genetic-analysis-in-neurology-implications-for-precision-medicine","status":"publish","type":"post","link":"https:\/\/genekor.com\/ro\/2023\/04\/04\/the-evolution-of-comprehensive-genetic-analysis-in-neurology-implications-for-precision-medicine\/","title":{"rendered":"Evolu\u021bia analizei genetice complete \u00een neurologie: Implica\u021bii pentru medicina de precizie"},"content":{"rendered":"\n<p>Concluziile studiului au fost c\u0103 informa\u021biile ob\u021binute \u00een urma analizei genetice, \u00een special \u00een urma unei analize NGS integrate, cum ar fi WES \u0219i WGS, sunt valoroase pentru diagnosticul \u0219i managementul individualizat al pacien\u021bilor cu boli neurogenetice. Se a\u0219teapt\u0103 ca medicina de precizie \u0219i aplicarea terapiilor genice \u021bintite s\u0103 devin\u0103 \u00een cur\u00e2nd o realitate.<\/p>\n\n\n\n<p> Pe scurt, potrivit publica\u021biei: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Selectarea adecvat\u0103 a testelor genetice este esen\u021bial\u0103 pentru analiza tulbur\u0103rilor neurologice care urmeaz\u0103 mo\u0219tenirea mendelian\u0103 \u0219i poate duce la un diagnostic precis al bolii.<\/li>\n\n\n\n<li>Tehnologia de secven\u021biere de genera\u021bie urm\u0103toare ofer\u0103 o solu\u021bie optim\u0103 pentru analiza tulbur\u0103rilor neurologice eterogene din punct de vedere fenotipic \u0219i genetic.<\/li>\n\n\n\n<li>O infrastructur\u0103 bioinformatic\u0103 adecvat\u0103 este esen\u021bial\u0103 pentru selec\u021bia genelor, interpretarea \u0219i clasificarea variantelor rezultate \u00een urma analizelor NGS.<\/li>\n\n\n\n<li>Subanaliza variantelor cu interpret\u0103ri prezentate \u00een baza de date Clinical Variation Database (ClinVar), \u00een genele legate de neurologie, efectuat\u0103 de grupul de bioinformatic\u0103 GENEKOR, indic\u0103 faptul c\u0103 VUS, atunci c\u00e2nd sunt reclasificate, \u00een cele din urm\u0103 se retrogradeaz\u0103 la constat\u0103ri nepatogene \u00een propor\u021bie de 81%.<\/li>\n\n\n\n<li>Consilierea genetic\u0103 \u0219i colaborarea multidisciplinar\u0103 ar putea \u00eembun\u0103t\u0103\u021bi \u0219i mai mult performan\u021ba diagnosticului.<\/li>\n\n\n\n<li>Analiza genetic\u0103 este util\u0103 nu numai pentru un diagnostic precis, ci \u0219i pentru gestionarea individualizat\u0103 a pacien\u021bilor neurologici. \u00cen plus, reprezint\u0103 baza pentru noi terapii genetice.<\/li>\n<\/ul>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Citi\u021bi publica\u021bia complet\u0103 <a href=\"https:\/\/www.genekor.com\/media\/1914\/evolution-of-comprehensive-gene-analysis-in-neurology_jns-2023.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">aici!<\/a><\/strong><\/p>\n\n\n\n<p>Autori. Kimiskidis , Maria Chondrogiorgi , Georgios Tsivgoulis , Dimos D. Mitsikostas , Eleni Domouzoglou , Georgios Tsaousis , Georgios Nasioulas<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Concluziile studiului au fost c\u0103 informa\u021biile ob\u021binute \u00een urma analizei genetice, \u00een special \u00een urma unei analize NGS integrate, cum ar fi WES \u0219i WGS, sunt valoroase pentru diagnosticul \u0219i [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":6450,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[33],"tags":[],"class_list":["post-6449","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-ro"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v24.0 (Yoast SEO v24.0) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Evolu\u021bia analizei genetice complete \u00een neurologie: Implica\u021bii pentru medicina de 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