{"id":102162,"date":"2025-10-04T03:21:22","date_gmt":"2025-10-04T03:21:22","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/102162\/"},"modified":"2025-10-04T03:21:22","modified_gmt":"2025-10-04T03:21:22","slug":"one-size-fits-nearly-all-fix-for-v2r-mutations","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/102162\/","title":{"rendered":"One-size-fits-(nearly)-all fix for V2R mutations"},"content":{"rendered":"<p>Genetic\/congenital<\/p>\n<p>Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the population, the global impact is significant, with an estimated 300 million individuals affected worldwide. A large proportion of pathogenic missense variants \u2013 estimated at 40%-60% \u2013 cause rare diseases by impairing protein stability. This underscores protein restoration as a promising therapeutic strategy. <\/p>\n<p><a class=\"topic\" href=\"https:\/\/www.bioworld.com\/topics\/520-bioworld-science\" rel=\"nofollow noopener\" target=\"_blank\">BioWorld Science<\/a> <a class=\"topic\" href=\"https:\/\/www.bioworld.com\/topics\/548-genetic-congenital\" rel=\"nofollow noopener\" target=\"_blank\">Genetic\/congenital<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"Genetic\/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction&hellip;\n","protected":false},"author":2,"featured_media":102163,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[19178,64539,18,19183,458,19,17,64542,2912,133,64541,64540],"class_list":{"0":"post-102162","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioworld-science","9":"tag-centre-for-genomic-regulation","10":"tag-eire","11":"tag-genetic-congenital","12":"tag-genetics","13":"tag-ie","14":"tag-ireland","15":"tag-nephrogenic-diabetes-insipidus","16":"tag-rare-disease","17":"tag-science","18":"tag-tolvaptan","19":"tag-vasopressin-v2-receptor"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/102162","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=102162"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/102162\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/102163"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=102162"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=102162"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=102162"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}