{"id":19395,"date":"2022-04-04T10:37:56","date_gmt":"2022-04-04T10:37:56","guid":{"rendered":"https:\/\/fundacionnoelia.org\/proyectos-de-investigacion\/desarrollo-del-silenciamiento-selectivo-de-mutaciones-como-terapia-para-las-distrofias-relacionadas-con-el-colageno-vi\/"},"modified":"2022-04-04T11:32:25","modified_gmt":"2022-04-04T11:32:25","slug":"development-of-selective-silencing-mutation-as-a-therapy-for-the-collagen-vi-related-dystrophies","status":"publish","type":"page","link":"https:\/\/fundacionnoelia.org\/en\/research-projects\/development-of-selective-silencing-mutation-as-a-therapy-for-the-collagen-vi-related-dystrophies\/","title":{"rendered":"Development of Selective Silencing Mutation as a Therapy for the Collagen VI Related Dystrophies."},"content":{"rendered":"[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space]
\"\"<\/div><\/figure>[vc_empty_space][vc_column_text]\n

DEVELOPMENT OF SELECTIVE SILENCING MUTATION AS A THERAPY FOR THE COLLAGEN VI RELATED DYSTROPHIES<\/span><\/h2>\n[\/vc_column_text][vc_empty_space][vc_column_text]\n
\n

Project description<\/strong>
\nThe project is based on gene silencing, a technique used to mask dominant mutations known in advance. This process ensures that only the functional copy of the gene will be expressed and thus the protein will be functional.<\/p>\n

It would become a future therapy, by using oligonucleotides to mask regions affecting the normal expression of a protein, achieving optimum levels of collagen VI in patients affected by dominant negative mutations, these kind of mutation are the most common in this subtype of dystrophy.<\/p>\n

Duration<\/strong>
\n2 years.<\/p>\n

Cost<\/strong>
\n150,000 US Dollars, co-financed by Fundacion Noelia i Cure CMD.<\/p>\n

Contributions made by Noelia Foundation<\/strong>
\nNovember 28, 2016:$ 75,000. <\/strong> Proof of transfer<\/a><\/p>\n<\/div>\n

Place of development<\/strong>
\nNINDS National Institute of Neurological Disease and Stroke, Bethesda, Maryland USA and elsewhere if they saw fit.<\/p>\n

Principal investigator\u00a0<\/strong>
\n\u2022\u00a0Dr. Bonnemann, Carsten G., MD<\/p>\n

Researchers involved in the project review<\/strong>
\n\u2022\u00a0Dr. Edward Kaye, MD, Interim Medical Director, Sarepta
\n\u2022 Dra. Cecilia Mallebrera
\n\u2022 Dra. Dione Kobayashi, PhD, Cure CMD Board
\n\u2022\u00a0Dra. Annemieke Aartsma- Rus, Leiden<\/p>\n

See complete project.<\/a>
\nLetter Hospital NIH (National Inst of Neurological Disorders and Stroke).<\/a>
\nLetter agreement between the Noelia Foundation and Dr. Walter Koroshets.<\/a><\/p>\n

\"\"<\/p>\n

\"\"[\/vc_column_text][\/vc_column][vc_column width=”1\/6″][\/vc_column][\/vc_row]\n","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space][vc_empty_space][vc_column_text] DEVELOPMENT OF SELECTIVE SILENCING MUTATION AS A THERAPY FOR THE COLLAGEN VI RELATED DYSTROPHIES [\/vc_column_text][vc_empty_space][vc_column_text] Project description The project is based on gene silencing, a technique used to mask dominant mutations known in advance. This process ensures that only the functional copy of the gene will be expressed and thus the protein…<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":19389,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-19395","page","type-page","status-publish","hentry","entry","no-media"],"yoast_head":"\nDevelopment of Selective Silencing Mutation as a Therapy for the Collagen VI Related Dystrophies. - Fundaci\u00f3n Noelia<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/fundacionnoelia.org\/en\/research-projects\/development-of-selective-silencing-mutation-as-a-therapy-for-the-collagen-vi-related-dystrophies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Development of Selective Silencing Mutation as a Therapy for the Collagen VI Related Dystrophies. - Fundaci\u00f3n Noelia\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space][vc_empty_space][vc_column_text] DEVELOPMENT OF SELECTIVE SILENCING MUTATION AS A THERAPY FOR THE COLLAGEN VI RELATED DYSTROPHIES [\/vc_column_text][vc_empty_space][vc_column_text] Project description The project is based on gene silencing, a technique used to mask dominant mutations known in advance. 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