{"id":4156,"date":"2025-05-23T10:49:10","date_gmt":"2025-05-23T10:49:10","guid":{"rendered":"https:\/\/scientificworld.org\/?p=4156"},"modified":"2025-05-23T10:49:12","modified_gmt":"2025-05-23T10:49:12","slug":"breakthrough-organoid-model-reveals-potential-treatment-for-rare-epileptic-disorder","status":"publish","type":"post","link":"https:\/\/scientificworld.org\/?p=4156","title":{"rendered":"Breakthrough Organoid Model Reveals Potential Treatment for Rare Epileptic Disorder"},"content":{"rendered":"\n<p>Scientists at St. Jude Children\u2019s Research Hospital have developed a pioneering cortical organoid model to study UBA5-associated encephalopathy, a rare and severe genetic disorder causing developmental delays and early-onset seizures. Published in&nbsp;<a href=\"http:\/\/dx.doi.org\/10.1126\/scitranslmed.adn8417\"><em>Science Translational Medicine<\/em><\/a>, their research uncovers key developmental defects and identifies a promising therapeutic approach by boosting the expression of a partially functioning gene copy.<\/p>\n\n\n\n<p>UBA5-associated encephalopathy is a recessive disorder, requiring two mutated gene copies to manifest, though one copy often retains partial function. Using induced pluripotent stem cells from patients, the team created 3D organoids that mimic brain regions, revealing stunted growth of GABAergic interneurons\u2014critical cells that regulate brain activity by inhibiting excessive electrical signals.<\/p>\n\n\n\n<p>\u201cThe patient organoids are smaller, grow slower, and exhibit disorganized electrical activity, which aligns with the hard-to-treat seizures observed in patients,\u201d explained Dr. Heather Mefford, lead researcher. The imbalance between excitation and inhibition in these organoids points to GABAergic dysfunction as a key driver of symptoms.<\/p>\n\n\n\n<p>In a breakthrough, the team found that enhancing the expression of the partially functional UBA5 gene reversed cellular defects, offering a potential treatment pathway. First author Dr. Helen Chen emphasized the importance of patient-derived models: \u201cOrganoids allow us to study the disorder\u2019s genetic landscape and test therapies more accurately than traditional methods.\u201d<\/p>\n\n\n\n<p>Dr. Mefford noted, \u201cIf we can coax cells to produce enough of the partially working gene, it might mitigate the disorder\u2019s effects.\u201d Dr. Chen added, \u201cOur next steps are defining the therapeutic window and delivery methods to translate these findings into clinical solutions.\u201d<\/p>\n\n\n\n<p>The study not only advances understanding of UBA5-associated encephalopathy but also highlights the critical role of patient advocacy groups in rare disease research. While further investigation is needed, the findings open a hopeful avenue for treating this devastating condition and underscore the power of organoid models in neuroscience.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Scientists at St. Jude Children\u2019s Research Hospital have developed a pioneering cortical organoid model to study UBA5-associated encephalopathy, a rare and severe genetic disorder causing developmental delays and early-onset seizures. Published in&nbsp;Science Translational Medicine, their research uncovers key developmental defects and identifies a promising therapeutic approach by boosting the expression of a partially functioning gene [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1093],"tags":[1833,1433],"class_list":["post-4156","post","type-post","status-publish","format-standard","hentry","category-neuroscience","tag-epileptic","tag-neuroscience"],"_links":{"self":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4156","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=4156"}],"version-history":[{"count":1,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4156\/revisions"}],"predecessor-version":[{"id":4157,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4156\/revisions\/4157"}],"wp:attachment":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4156"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4156"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4156"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}