{"id":12611,"date":"2022-09-02T11:07:01","date_gmt":"2022-09-02T09:07:01","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12611"},"modified":"2022-09-02T11:07:01","modified_gmt":"2022-09-02T09:07:01","slug":"gene-of-the-month-august-bcl11a","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-bcl11a\/","title":{"rendered":"Gene of the Month &#8211; August: BCL11A"},"content":{"rendered":"<p>Inactivation of the <em>BCL11A<\/em> gene by CRISPR\/Cas9 genome editing may be a therapeutic option to cure the most severe type of \u03b2 thalassemia. An ongoing phase I\/II study is evaluating the safety and efficacy of this gene therapy approach in children with transfusion-dependent \u03b2 thalassemia.<\/p>\n<p>\u03b2 Thalassemia is a hemolytic disease and one of the most common monogenic disorders. It is caused by defects of the <em>HBB<\/em> gene leading to a substantial reduction or complete loss of the \u03b2 globin chains of hemoglobin. Patients who carry defects in both alleles of the <em>HBB<\/em> gene (\u03b20\/\u03b20) require lifelong transfusion therapy and have a severely limited life quality and life expectancy. BCL11A is the transcription factor blocking expression of \u03b3-globin, a component of fetal hemoglobin. Production of fetal hemoglobin (HbF) is normally discontinued after birth. Inactivation of BCL11A can reactivate expression of this functional hemoglobin variant.<\/p>\n<p>The authors of the study published in <em>Nature Medicine<\/em> transplanted <em>BCL11A<\/em>-edited autologous hematopoietic stem and precursor cells into two children. One of the children carried the \u03b20\/\u03b20 genotype. Both children were clinically well after the treatment, the transplanted cells started to grow and new blood cells were produced. There were no adverse effects that were considered to be related to gene editing. The children showed a sustained activation of HbF synthesis and achieved transfusion independence for more than 18 months after treatment. The researchers also performed single-cell RNA sequencing to analyze gene expression in edited peripheral mononuclear blood cells and did not found no notable side effects of the therapy.<\/p>\n[vc_column_text] Fu B, Liao J, Chen S, \u2026 Wu Y. CRISPR-Cas9-mediated gene editing of the BCL11A enhancer for pediatric \u03b20\/\u03b20 transfusion-dependent \u03b2-thalassemia. Nat Med. 2022 Aug;28(8):1573-1580. doi: 10.1038\/s41591-022-01906-z. Epub 2022 Aug 4. [\/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\/35922667&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Inactivation of the BCL11A gene by CRISPR\/Cas9 genome editing may be a therapeutic option to cure the most severe type of \u03b2 thalassemia. An ongoing phase I\/II study is evaluating the safety and efficacy of this gene therapy approach in children with transfusion-dependent \u03b2 thalassemia. \u03b2 Thalassemia is a hemolytic disease and one of the [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12611","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 - August: BCL11A - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Inactivation of the BCL11A gene by CRISPR\/Cas9 genome editing may be a therapeutic option to cure the most severe type of \u03b2 thalassemia.\" \/>\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-august-bcl11a\/\" \/>\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 - August: BCL11A - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Inactivation of the BCL11A gene by CRISPR\/Cas9 genome editing may be a therapeutic option to cure the most severe type of \u03b2 thalassemia.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-bcl11a\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-09-02T09:07:01+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-august-bcl11a\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-august-bcl11a\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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