{"id":60326,"date":"2025-10-04T03:22:23","date_gmt":"2025-10-04T03:22:23","guid":{"rendered":"https:\/\/www.newsbeep.com\/ie\/60326\/"},"modified":"2025-10-04T03:22:23","modified_gmt":"2025-10-04T03:22:23","slug":"one-size-fits-nearly-all-fix-for-v2r-mutations","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/ie\/60326\/","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":60327,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[41853,41854,41858,254,61,60,41857,1709,82,41856,41855],"class_list":["post-60326","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-bioworld-science","tag-centre-for-genomic-regulation","tag-genetic-congenital","tag-genetics","tag-ie","tag-ireland","tag-nephrogenic-diabetes-insipidus","tag-rare-disease","tag-science","tag-tolvaptan","tag-vasopressin-v2-receptor"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/60326","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/comments?post=60326"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/60326\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media\/60327"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media?parent=60326"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/categories?post=60326"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/tags?post=60326"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}