{"id":7907,"date":"2019-09-26T20:48:26","date_gmt":"2019-09-26T20:48:26","guid":{"rendered":"http:\/\/medicina.udd.cl\/icim\/?p=7907"},"modified":"2019-09-26T20:48:26","modified_gmt":"2019-09-26T20:48:26","slug":"expertas-internacionales-imparten-taller-sobre-interpretacion-de-exomas-para-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/medicina.udd.cl\/icim\/2019\/09\/26\/expertas-internacionales-imparten-taller-sobre-interpretacion-de-exomas-para-enfermedades-raras\/","title":{"rendered":"Expertas internacionales imparten taller sobre interpretaci\u00f3n de exomas para enfermedades raras"},"content":{"rendered":"<div id=\"gallery-1\" class=\"carousel slide carousel-gallery\" data-ride=\"false\" data-interval=\"false\"><div class=\"carousel-inner\" role=\"listbox\"><figure class=\"carousel-item active\"><img loading=\"lazy\" decoding=\"async\" width=\"801\" height=\"534\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108-440x245.jpg\" class=\"attachment-landscape_952 size-landscape_952 lazyload\" alt=\"\" sizes=\"auto, (max-width: 801px) 100vw, 801px\" data-src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108.jpg\" data-srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108.jpg 5184w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3108-600x400.jpg 600w\" \/><\/figure><figure class=\"carousel-item\"><img loading=\"lazy\" decoding=\"async\" width=\"801\" height=\"534\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085-440x245.jpg\" class=\"attachment-landscape_952 size-landscape_952 lazyload\" alt=\"\" sizes=\"auto, (max-width: 801px) 100vw, 801px\" data-src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085.jpg\" data-srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085.jpg 5184w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3085-600x400.jpg 600w\" \/><\/figure><figure class=\"carousel-item\"><img loading=\"lazy\" decoding=\"async\" width=\"801\" height=\"534\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105-440x245.jpg\" class=\"attachment-landscape_952 size-landscape_952 lazyload\" alt=\"\" sizes=\"auto, (max-width: 801px) 100vw, 801px\" data-src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105.jpg\" data-srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105.jpg 5184w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3105-600x400.jpg 600w\" \/><\/figure><figure class=\"carousel-item\"><img loading=\"lazy\" decoding=\"async\" width=\"801\" height=\"534\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118-440x245.jpg\" class=\"attachment-landscape_952 size-landscape_952 lazyload\" alt=\"\" sizes=\"auto, (max-width: 801px) 100vw, 801px\" data-src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118.jpg\" data-srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118.jpg 5184w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3118-600x400.jpg 600w\" \/><\/figure><\/div><footer class=\"carousel-footer\"><div class=\"carousel-counter\"><span class=\"carousel-counter-current\"><\/span> \/ <span class=\"carousel-counter-total\"><\/span><\/div><a class=\"carousel-control-prev\" href=\"#gallery-1\" role=\"button\" data-slide=\"prev\"><svg aria-hidden=\"true\" class=\"svg-chevron-left-dims\"><use xlink:href='https:\/\/medicina.udd.cl\/icim\/wp-content\/themes\/facultades-2018\/assets\/img\/svg\/dist\/main.svg?version=1695853099#chevron-left'><\/use><\/svg><span class=\"sr-only\">Anterior<\/span><\/a><a class=\"carousel-control-next\" href=\"#gallery-1\" role=\"button\" data-slide=\"next\"><svg aria-hidden=\"true\" class=\"svg-chevron-right-dims\"><use xlink:href='https:\/\/medicina.udd.cl\/icim\/wp-content\/themes\/facultades-2018\/assets\/img\/svg\/dist\/main.svg?version=1695853099#chevron-right'><\/use><\/svg><span class=\"sr-only\">Siguiente<\/span><\/a><\/footer><\/div>\n<p>Investigadores de diferentes centros de la\u00a0<a href=\"https:\/\/medicina.udd.cl\/\" target=\"_blank\" rel=\"noreferrer noopener\">Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo<\/a>\u00a0 y alumnos del\u00a0<a href=\"https:\/\/medicina.udd.cl\/doctorado\/es\/\" target=\"_blank\" rel=\"noreferrer noopener\">Doctorado en Ciencias e Innovaci\u00f3n en Medicina<\/a>, participaron del taller \u201cHands on\u201d que tuvo como foco la interpretaci\u00f3n de exomas \u2013una de las partes codificantes del genoma- para enfermedades raras, una actividad impartida por expertos internacionales que visitaron el pa\u00eds en el marco del\u00a0<a href=\"https:\/\/cursos.alemana.cl\/cursos\/detalle\/curso-internacional-de-enfermedades-raras\" target=\"_blank\" rel=\"noreferrer noopener\">Curso Internacional de Enfermedades Raras, organizado por la misma facultad<\/a>.<\/p>\n<p>Una de las expositoras fue la\u00a0<strong>Dra. Jennifer Posey<\/strong>, profesora asistente del Departamento de Gen\u00e9tica Molecular y Humana de\u00a0<em><a href=\"https:\/\/www.bcm.edu\/\" target=\"_blank\" rel=\"noreferrer noopener\">Baylor College of Medicine<\/a>\u00a0<\/em>de Houston, Texas, Estados Unidos, oportunidad en la que realiz\u00f3 un an\u00e1lisis sistematizado de las variantes en secuenciaci\u00f3n de exomas completos.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-7909\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3092-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3092-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3092-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3092-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3092-600x400.jpg 600w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/p>\n<p>Por otra parte, la\u00a0<strong>PhD Nara Sobrera<\/strong>, profesora asistente de Medicina Gen\u00e9tica de\u00a0<em><a href=\"https:\/\/www.hopkinsmedicine.org\/som\/index.html\" target=\"_blank\" rel=\"noreferrer noopener\">John Hopkins School of Medicine<\/a>,<\/em>\u00a0puso \u00e9nfasis en las herramientas espec\u00edficas para la interpretaci\u00f3n de estos exomas, -tales como Pheno DB-, lo que contribuye a mejorar la capacidad de an\u00e1lisis de pruebas gen\u00e9ticas complejas para un mejor diagn\u00f3stico de enfermedades raras.<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-7912\" src=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3113-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3113-300x200.jpg 300w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3113-768x512.jpg 768w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3113-1024x683.jpg 1024w, https:\/\/medicina.udd.cl\/icim\/files\/2019\/09\/IMG_3113-600x400.jpg 600w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Investigadores de diferentes centros de la\u00a0Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo\u00a0 y alumnos del\u00a0Doctorado en Ciencias e Innovaci\u00f3n en Medicina, participaron del taller \u201cHands on\u201d que tuvo como foco la interpretaci\u00f3n de exomas \u2013una de las partes codificantes del genoma- para enfermedades raras, una actividad impartida por expertos internacionales que visitaron el pa\u00eds [&hellip;]<\/p>\n","protected":false},"author":9192219,"featured_media":7911,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-7907","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticias"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - 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