{"id":23651,"date":"2021-07-15T10:20:55","date_gmt":"2021-07-15T16:20:55","guid":{"rendered":"https:\/\/otech.uaeh.edu.mx\/noti\/?p=23651"},"modified":"2021-07-15T10:22:32","modified_gmt":"2021-07-15T16:22:32","slug":"cientificos-lanzan-un-proyecto-que-crea-un-atlas-de-variantes-del-genoma-humano","status":"publish","type":"post","link":"https:\/\/otech.uaeh.edu.mx\/noti\/ciencia\/cientificos-lanzan-un-proyecto-que-crea-un-atlas-de-variantes-del-genoma-humano\/","title":{"rendered":"Cient\u00edficos lanzan un proyecto que crea un atlas de variantes del genoma humano"},"content":{"rendered":"<p class=\"has-drop-cap\" style=\"text-align: justify;\">Un consorcio internacional de genetistas, bi\u00f3logos, cl\u00ednicos, matem\u00e1ticos y otros cient\u00edficos est\u00e1 decidido a llevar el estudio del genoma humano al siguiente nivel, creando un atlas completo de variantes gen\u00e9ticas para avanzar en la comprensi\u00f3n, diagn\u00f3stico y tratamiento de enfermedades.<!--more--><\/p>\n<p style=\"text-align: justify;\">\u201cEsta empresa herc\u00falea no tiene precedentes\u201d, ha explicado el doctor Matthew Hurles, genetista del Instituto Wellcome Sanger en Cambridge (Inglaterra). \u201cDe hecho, la comunidad cient\u00edfica tiene un cat\u00e1logo cada vez m\u00e1s completo de elementos funcionales del ADN en el genoma humano, pero ese cat\u00e1logo sigue siendo incompleto. Hemos caracterizado colectivamente el impacto funcional de menos del 1% de la variaci\u00f3n gen\u00e9tica en el 1 al 2 por ciento de nuestro ADN\u201d, ha declarado.<\/p>\n<p style=\"text-align: justify;\"><em>\u201cNunca hemos sabido tanto sobre la variaci\u00f3n que ocurre naturalmente en el genoma humano y ahora es el momento de aprovechar la oportunidad para comprender qu\u00e9 significa esa variaci\u00f3n para la salud humana\u201d<\/em><\/p>\n<p style=\"text-align: justify;\">Hurles y el doctor Doug Fowler, miembro del Instituto Brotman Baty de Medicina de Precisi\u00f3n (BBI) y profesor de Ciencias del Genoma en la Facultad de Medicina de la Universidad de Washington, quieren aumentar esos porcentajes de manera significativa.<\/p>\n<p style=\"text-align: justify;\">Son miembros fundadores de la Alianza Atlas of Variant Effects (AVE) y coautores de un documento t\u00e9cnico que describe lo que puede ser la tarea m\u00e1s ambiciosa de los \u00faltimos 30 a\u00f1os desde el Proyecto Genoma Humano.<\/p>\n<p style=\"text-align: justify;\">\u201cNunca hemos sabido tanto sobre la variaci\u00f3n que ocurre naturalmente en el genoma humano y ahora es el momento de aprovechar la oportunidad para comprender qu\u00e9 significa esa variaci\u00f3n para la salud humana\u201d, ha sostenido Anna L. Gloyn, profesora de pediatr\u00eda en la Facultad de Medicina de la Universidad de Stanford y miembro del Comit\u00e9 Ejecutivo del AVE.<\/p>\n<p style=\"text-align: justify;\">Los esfuerzos iniciales de los miembros de la Alianza AVE se centrar\u00e1n en cuantificar el impacto funcional de las variantes de un solo nucle\u00f3tido en los loci gen\u00f3micos, principalmente genes codificadores de prote\u00ednas humanas, que ofrecen la mayor y m\u00e1s inmediata utilidad cl\u00ednica.<\/p>\n<p style=\"text-align: justify;\">\u201cEl objetivo final es desarrollar una comprensi\u00f3n amplia y sistem\u00e1tica del impacto funcional de las variantes en humanos, organismos modelo y genomas de pat\u00f3genos\u201d, ha agregado Fowler.<\/p>\n<p style=\"text-align: justify;\">\u201cSin embargo, el campo del mapeo de efectos variantes ya est\u00e1 produciendo impactos importantes. Creemos y esperamos que un enfoque coordinado y por fases con otros a nivel mundial podr\u00eda ser transformador. Se espera que el primer impacto importante en el \u2018mundo real\u2019 del atlas de efectos variantes Se mejorar\u00e1 el diagn\u00f3stico gen\u00e9tico y la medicina de precisi\u00f3n\u201d, han sentenciado.<\/p>\n<p style=\"text-align: justify;\"><strong>Fuente: consalud.es<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un consorcio internacional de genetistas, bi\u00f3logos, cl\u00ednicos, matem\u00e1ticos y otros cient\u00edficos est\u00e1 decidido a llevar el estudio del genoma humano al siguiente nivel, creando un atlas completo de variantes gen\u00e9ticas para avanzar en la comprensi\u00f3n, diagn\u00f3stico y tratamiento de enfermedades.<\/p>\n","protected":false},"author":1,"featured_media":23653,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[56],"tags":[],"class_list":["post-23651","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ciencia"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.7 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Cient\u00edficos lanzan un proyecto que crea un atlas de variantes del genoma humano - Observatorio Tecnol\u00f3gico de Hidalgo<\/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:\/\/otech.uaeh.edu.mx\/noti\/ciencia\/cientificos-lanzan-un-proyecto-que-crea-un-atlas-de-variantes-del-genoma-humano\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" 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