{"id":223158,"date":"2025-10-09T11:10:53","date_gmt":"2025-10-09T16:10:53","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/10\/scientists-fix-genetic-defect-in-mice-tied-to-brain-disorders-that-include-autism-and-epilepsy"},"modified":"2025-10-09T11:10:53","modified_gmt":"2025-10-09T16:10:53","slug":"scientists-fix-genetic-defect-in-mice-tied-to-brain-disorders-that-include-autism-and-epilepsy","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/10\/scientists-fix-genetic-defect-in-mice-tied-to-brain-disorders-that-include-autism-and-epilepsy","title":{"rendered":"Scientists fix genetic defect in mice tied to brain disorders that include autism and epilepsy"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/scientists-fix-genetic-defect-in-mice-tied-to-brain-disorders-that-include-autism-and-epilepsy2.jpg\"><\/a><\/p>\n<p>In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a class of brain disorders that can lead to severe and debilitating symptoms including intellectual disability, epilepsy, motor problems, and risk-taking behaviors in humans. In most cases, SRDs are caused when someone has only one working copy of the SYNGAP1 gene instead of the normal two.<\/p>\n<p>The findings, recently <a href=\"https:\/\/www.cell.com\/molecular-therapy-family\/molecular-therapy\/fulltext\/S1525-0016(25)00759-2\" target=\"_blank\">published<\/a> in the journal <i>Molecular Therapy<\/i>, represent the first successful gene supplementation therapy for SRDs in which an adeno associate virus (AAV) was used to deliver a working copy of the SYNGAP1 gene into <a href=\"https:\/\/medicalxpress.com\/tags\/brain+cells\/\" rel=\"tag\" class=\"\">brain cells<\/a>. AAVs are non-replicating viruses that act like delivery trucks carrying therapeutic cargo, in this case the SYNGAP1 gene, into cells that need it.<\/p>\n<p>\u201cGene supplementation is providing a functional new copy of a defective gene, a strategy that has great potential for correcting diseases where a gene is completely missing or where a single copy of a gene is lost,\u201d said Boaz Levi, Ph.D., associate investigator at the Allen Institute and senior author of the study. \u201cThis provides a clear demonstration that SYNGAP1-related disorders can be treated with a neuron-specific gene supplementation strategy. It\u2019s an important milestone for the field that provides hope for those who suffer from this class of severe neurological diseases.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"<p>In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a class of brain disorders that can lead to severe and debilitating symptoms including intellectual disability, epilepsy, motor problems, and risk-taking behaviors in humans. In most cases, [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412,47],"tags":[],"class_list":["post-223158","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics","category-neuroscience"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/223158","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=223158"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/223158\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=223158"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=223158"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=223158"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}