{"id":11847,"date":"2021-02-01T14:50:55","date_gmt":"2021-02-01T13:50:55","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11847"},"modified":"2021-02-01T14:50:55","modified_gmt":"2021-02-01T13:50:55","slug":"gene-of-the-month-january-bcl11a","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-bcl11a\/","title":{"rendered":"Gene of the Month – January: BCL11A"},"content":{"rendered":"

Editing of the BCL11A<\/em> gene by CRISPR\/Cas9 might be a future gene therapy approach to treat sickle cell disease and beta thalassemia. This is suggested by the first results of a pilot study led by clinicians and researchers from Regensburg, Germany, and the U.S., which was published in the New England Journal of Medicine<\/em>. More than a year after a single administration of the gene-editing therapy, the first two patients showed strongly increased fetal hemoglobin levels, they were symptom-free and no longer needed blood transfusion. Both had high levels of the fetal hemoglobin boosted by BCL11A<\/em> gene editing in their bone marrow and blood.<\/p>\n

Sickle cell disease and beta thalassemia are blood disorders with defective hemoglobin formation due to mutations in the HBB<\/em> gene, encoding a subunit of adult hemoglobin. They are associated with severe manifestations including repeated strong pain and can lead to a reduced life expectancy. BCL11A is a transcription factor that represses the synthesis of gamma globin, a component of fetal hemoglobin. While the production of fetal hemoglobin normally decreases after birth, the study investigators designed their approach of knocking out BCL11A to reactivate its production.<\/p>\n

In the clinical phase I\/II study sponsored by pharmaceutical companies CRISPR Therapeutics and Vertex Pharmaceuticals, the researchers harvested hematopoietic stem and precursor cells from their patients and genetically engineered a specific, regulatory enhancer segment of BCL11A<\/em>. Then they reinfused the cells back into the patients. The same NEJM<\/em> issue also reports another gene therapy approach targeting BCL11A<\/em> to treat sickle cell disease. In this second study, researchers used lentiviral vectors and microRNA to block BCL11A production, a strategy which also yielded positive results.<\/p>\n[vc_column_text] Frangoul H, Altshuler D, Cappellini MD, \u2026 Corbacioglu S. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and \u03b2-Thalassemia. N Engl J Med.<\/em> 2021 Jan 21;384(3):252-260. doi: 10.1056\/NEJMoa2031054. [\/vc_column_text]\n[mk_button dimension=”flat” size=”medium” icon=”mk-icon-long-arrow-right” icon_anim=”side” url=”https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33283989″ target=”_blank” bg_color=”#006699″ btn_hover_bg=”#000000″ btn_hover_txt_color=”#ffffff”]Article in PubMed[\/mk_button][mk_padding_divider size=”30″]\n[vc_column_text] Esrick EB, Lehmann LE, Biffi A, \u2026 Williams DA. Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease. N Engl J Med.<\/em> 2021 Jan 21;384(3):205-215. doi: 10.1056\/NEJMoa2029392. [\/vc_column_text]\n[mk_button dimension=”flat” size=”medium” icon=”mk-icon-long-arrow-right” icon_anim=”side” url=”https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33283990″ target=”_blank” bg_color=”#006699″ btn_hover_bg=”#000000″ btn_hover_txt_color=”#ffffff”]Article in PubMed[\/mk_button][mk_padding_divider size=”30″]\n","protected":false},"excerpt":{"rendered":"

Editing of the BCL11A gene by CRISPR\/Cas9 might be a future gene therapy approach to treat sickle cell disease and beta thalassemia. This is suggested by the first results of a pilot study led by clinicians and researchers from Regensburg, Germany, and the U.S., which was published in the New England Journal of Medicine. More […]<\/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-11847","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"\nGene of the Month - January: BCL11A - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Genome editing of BCL11A by CRISPR\/Cas9 as potential future therapeutic approach for sickle cell disease and beta-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-january-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 - January: BCL11A - 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