{"id":1510,"date":"2026-02-27T13:42:31","date_gmt":"2026-02-27T18:42:31","guid":{"rendered":"https:\/\/pjenkinslab.org\/?p=1510"},"modified":"2026-02-27T13:42:31","modified_gmt":"2026-02-27T18:42:31","slug":"collaborative-paper-on-scn2a-gene-therapy-with-bender-and-ahituv-labs-published-in-nature","status":"publish","type":"post","link":"https:\/\/pjenkinslab.org\/index.php\/2026\/02\/27\/collaborative-paper-on-scn2a-gene-therapy-with-bender-and-ahituv-labs-published-in-nature\/","title":{"rendered":"Collaborative paper on Scn2a gene therapy with Bender and Ahituv labs published in Nature!"},"content":{"rendered":"<div class='flex_column av-av_two_third-7714eba142aeda1f8b5272a3c372b279 av_two_third  avia-builder-el-0  el_before_av_one_third  avia-builder-el-first  first flex_column_div '     ><style type=\"text\/css\" data-created_by=\"avia_inline_auto\" id=\"style-css-av-mm582ygn-e9653ce565432dd9b60139d13ec1603e\">\n.avia-image-container.av-mm582ygn-e9653ce565432dd9b60139d13ec1603e img.avia_image{\nbox-shadow:none;\n}\n.avia-image-container.av-mm582ygn-e9653ce565432dd9b60139d13ec1603e .av-image-caption-overlay-center{\ncolor:#ffffff;\n}\n<\/style>\n<div  class='avia-image-container av-mm582ygn-e9653ce565432dd9b60139d13ec1603e av-styling- avia-align-center  avia-builder-el-1  avia-builder-el-no-sibling '   itemprop=\"image\" itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/ImageObject\" ><div class=\"avia-image-container-inner\"><div class=\"avia-image-overlay-wrap\"><img decoding=\"async\" class='wp-image-1512 avia-img-lazy-loading-not-1512 avia_image ' src=\"https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure-1030x911.png\" alt='' title='Nature-figure'  height=\"911\" width=\"1030\"  itemprop=\"thumbnailUrl\" srcset=\"https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure-1030x911.png 1030w, https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure-300x265.png 300w, https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure-768x679.png 768w, https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure-705x623.png 705w, https:\/\/pjenkinslab.org\/wp-content\/uploads\/2026\/02\/Nature-figure.png 1287w\" sizes=\"(max-width: 1030px) 100vw, 1030px\" \/><\/div><\/div><\/div><\/div><div class='flex_column av-av_one_third-f1c518e9ff58e869f80c8f093487abc9 av_one_third  avia-builder-el-2  el_after_av_two_third  avia-builder-el-last  flex_column_div '     ><section  class='av_textblock_section av-mm58ou8y-65d6447fafe9efcd07755562fe29dd98'  itemscope=\"itemscope\" itemtype=\"https:\/\/schema.org\/BlogPosting\" itemprop=\"blogPost\" ><div class='avia_textblock'  itemprop=\"text\" ><p>Former Jenkins lab PhD student, Andrew Nelson, along with co-first authors Serena Tamura and Perry Spratt have published their magnum opus on the use of CRISPR-activation (CRISPRa) to correct <em>Scn2a<\/em> haploinsufficiency in the journal <em>Nature<\/em>. Led by the Kevin Bender and Nadav Ahituv labs at UCSF, this study uses a promoter-targeted dCas9 fusion protein to upregulate the native <em>Scn2a<\/em> allele in heterozygous loss-of-function mice. Our collaborative team showed that CRISPRa can upregulate <em>Scn2a<\/em>\/Nav1.2, even in adult animals, to rescue cellular, synaptic, and behavioral deficits, laying the groundwork for potential future gene therapy approaches for patients with <em>SCN2A<\/em> loss-of-function variants. Interestingly, <em>Scn2a<\/em>-directed CRISPRa in wild-type mice did not &#8220;overshoot&#8221; normal Nav1.2 function of promote seizure susceptibility, suggesting that there is a &#8220;ceiling effect&#8221; promoting safety. This work joins the growing number of studies showing the exciting potential of sodium channel gene therapies in rescuing severe disease, like the work of <a href=\"https:\/\/www.stoketherapeutics.com\/scientific-platform\/publications\/\">Dr. Lori Isom and Stoke Therapeutics<\/a> in children carrying <em>SCN1A<\/em> variants in Dravet Syndrome. Read more about our collaborative study <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/40963013\/\">here<\/a>. Congrats to the whole team!!<\/p>\n<\/div><\/section><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":1511,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1510"}],"collection":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/comments?post=1510"}],"version-history":[{"count":2,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1510\/revisions"}],"predecessor-version":[{"id":1514,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/posts\/1510\/revisions\/1514"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/media\/1511"}],"wp:attachment":[{"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/media?parent=1510"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/categories?post=1510"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pjenkinslab.org\/index.php\/wp-json\/wp\/v2\/tags?post=1510"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}