{"id":56157,"date":"2026-04-23T08:56:39","date_gmt":"2026-04-23T06:56:39","guid":{"rendered":"https:\/\/fgu.cas.cz\/udalost\/diagnostics-of-primary-mitochondrial-disease-patients-a-biochemists-perspective\/"},"modified":"2026-04-23T08:57:27","modified_gmt":"2026-04-23T06:57:27","slug":"diagnostics-of-primary-mitochondrial-disease-patients-a-biochemists-perspective","status":"publish","type":"udalost","link":"https:\/\/fgu.cas.cz\/en\/event\/diagnostics-of-primary-mitochondrial-disease-patients-a-biochemists-perspective\/","title":{"rendered":"Diagnostics of primary mitochondrial disease patients &#8211; a biochemist&#8217;s&nbsp;perspective"},"content":{"rendered":"<p><strong>Annotation:<\/strong> Primary mitochondrial diseases are clinically heterogeneous genetic disorders caused by defects in oxidative phosphorylation. While next-generation sequencing has become the first-line diagnostic approach, it frequently identifies Variants of Uncertain Significance (VUS) in candidate genes, representing a major bottleneck \u2014 diagnostic yield remains below 50% across most cohorts.<\/p>\n<p><strong>IPHYS contact:<\/strong> Tom\u00e1\u0161 Mr\u00e1\u010dek, tomas.mracek@fgu.cas.cz<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Annotation: Primary mitochondrial diseases are clinically heterogeneous genetic disorders caused by defects in oxidative phosphorylation. While next-generation sequencing has become the first-line diagnostic approach, it frequently identifies Variants of Uncertain Significance (VUS) in candidate genes, representing a major bottleneck \u2014 diagnostic yield remains below 50% across most cohorts. IPHYS contact: Tom\u00e1\u0161 Mr\u00e1\u010dek, tomas.mracek@fgu.cas.cz<\/p>\n","protected":false},"author":11,"featured_media":55280,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"kategorie-udalosti":[],"class_list":["post-56157","udalost","type-udalost","status-publish","has-post-thumbnail","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/udalost\/56157","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/udalost"}],"about":[{"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/types\/udalost"}],"author":[{"embeddable":true,"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/users\/11"}],"version-history":[{"count":1,"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/udalost\/56157\/revisions"}],"predecessor-version":[{"id":56158,"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/udalost\/56157\/revisions\/56158"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/media\/55280"}],"wp:attachment":[{"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/media?parent=56157"}],"wp:term":[{"taxonomy":"kategorie-udalosti","embeddable":true,"href":"https:\/\/fgu.cas.cz\/en\/wp-json\/wp\/v2\/kategorie-udalosti?post=56157"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}