{"id":1860,"date":"2024-04-19T13:59:32","date_gmt":"2024-04-19T01:59:32","guid":{"rendered":"https:\/\/blogs.otago.ac.nz\/go\/?p=1860"},"modified":"2024-04-19T14:00:47","modified_gmt":"2024-04-19T02:00:47","slug":"cause-of-rare-genetic-condition-discovered","status":"publish","type":"post","link":"https:\/\/blogs.otago.ac.nz\/go\/cause-of-rare-genetic-condition-discovered\/","title":{"rendered":"Cause of rare genetic condition discovered"},"content":{"rendered":"<p>Genetics Otago member <strong>Amy Jones<\/strong> (PhD student in the Robertson group) is the lead author of a recently published paper in The American Journal of Human Genetics. The research on Glutamine Synthetase Stabilization Disorder involved an international team of researchers and provides \u201can excellent example of finely tuned precision medicine\u201d.<\/p>\n<p>Read more <a href=\"https:\/\/www.otago.ac.nz\/news\/newsroom\/cause-of-rare-genetic-condition-discovered\">via the Otago Newsroom<\/a>.<\/p>\n<p><strong>Publication details:<\/strong><\/p>\n<p><em><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2024.03.005\">Clustered de novo Start-Loss Variants in GLUL Result in a Developmental and Epileptic Encephalopathy via Stabilization of Glutamine Synthetase<\/a><\/em><\/p>\n<p><strong>Amy G Jones<\/strong>, Matilde Aquilino, Rory J Tinker, Laura Duncan, <strong>Zandra Jenkins<\/strong>, Gemma L Carvill, Stephanie J DeWard, Dorothy K Grange, MJ Hajianpour, <strong>Benjamin J Halliday<\/strong>, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I Esterhuizen, Tilman Polster, Alice Spano, In\u00e9s G\u00f3mez-Lozano, Abhishek Kumar, <strong>Gemma Poke<\/strong>, John A Phillips III, Hunter R Underhill, <strong>Gregory Gimenez,<\/strong> Takashi Namba, and <strong>Stephen P Robertson.<\/strong><\/p>\n<p><em>American Journal of Human Genetics<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetics Otago member Amy Jones (PhD student in the Robertson group) is the lead author of a recently published paper in The American Journal of Human Genetics. The research on Glutamine Synthetase Stabilization Disorder involved an international team of researchers and provides \u201can excellent example of finely tuned precision medicine\u201d. Read more via the Otago [&hellip;]<\/p>\n","protected":false},"author":37560,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[],"tags":[],"class_list":["post-1860","post","type-post","status-publish","format-standard","hentry"],"_links":{"self":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts\/1860","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/users\/37560"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/comments?post=1860"}],"version-history":[{"count":0,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/posts\/1860\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/media?parent=1860"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/categories?post=1860"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.otago.ac.nz\/go\/wp-json\/wp\/v2\/tags?post=1860"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}