{"id":14666,"date":"2025-10-02T15:05:15","date_gmt":"2025-10-02T13:05:15","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14666"},"modified":"2025-10-02T15:05:15","modified_gmt":"2025-10-02T13:05:15","slug":"gene-of-the-month-september-scn2a","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-scn2a\/","title":{"rendered":"Gene of the Month &#8211; September: SCN2A"},"content":{"rendered":"<p>A gene therapy based on CRISPR activation (CRISPRa) shows promise for treating <em>SCN2A<\/em>-related disorders, which may be associated by epilepsy and other conditions and are caused by gene haploinsufficiency. This is suggested by a recent study published in <em>Nature<\/em>.<\/p>\n<p><em>SCN2A<\/em> is a gene that codes for a sodium channel essential for brain cell communication. It is one of the most common single-gene contributors to neurodevelopmental disorders associated with haploinsufficiency, including autism, intellectual disability, and epilepsy. Haploinsufficiency occurs when one of the two copies of a gene is faulty or missing, resulting in too little protein to support normal function.<\/p>\n<p>The study\u2019s authors applied CRISPRa in mice to boost the activity of the remaining, correct <em>SCN2A<\/em> gene copy. They used a harmless virus to deliver CRISPRa to the cells, targeting a promotor, a kind of natural \u201cswitch\u201d, of the <em>SCN2A<\/em> gene. This restored normal electrophysiological function and protected the animals from seizures\u2014even when treatment was started during adolescence. The treatment was well tolerated with no harmful overactivity in the brain. Similar benefits were also observed in human neurons derived from stem cells.<\/p>\n[vc_column_text]Tamura S, Nelson AD, Spratt PWE, \u2026, Bender KJ. CRISPR activation for SCN2A-related neurodevelopmental disorders. <em>Nature<\/em>. 2025 Sep 17. doi: 10.1038\/s41586-025-09522-w. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40963013&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Zum Artikel in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>A gene therapy based on CRISPR activation (CRISPRa) shows promise for treating SCN2A-related disorders, which may be associated by epilepsy and other conditions and are caused by gene haploinsufficiency. This is suggested by a recent study published in Nature. SCN2A is a gene that codes for a sodium channel essential for brain cell communication. It [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-14666","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - September: SCN2A - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A gene therapy based on CRISPRa shows promise for treating SCN2A-related disorders, which are caused by gene haploinsufficiency.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-scn2a\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - September: SCN2A - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A gene therapy based on CRISPRa shows promise for treating SCN2A-related disorders, which are caused by gene haploinsufficiency.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-scn2a\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2025-10-02T13:05:15+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-scn2a\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-scn2a\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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