{"id":621,"date":"2012-12-07T09:18:31","date_gmt":"2012-12-07T12:18:31","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-humana\/?p=621"},"modified":"2012-12-07T09:44:13","modified_gmt":"2012-12-07T12:44:13","slug":"sociedad-chilena-de-pediatria-galardona-trabajo-del-centro-de-genetica","status":"publish","type":"post","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/noticias\/2012\/12\/07\/sociedad-chilena-de-pediatria-galardona-trabajo-del-centro-de-genetica\/","title":{"rendered":"Sociedad Chilena de Pediatr\u00eda galardona trabajo del Centro de Gen\u00e9tica"},"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=\"380\" height=\"250\" src=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe3.jpg\" class=\"attachment-landscape_952 size-landscape_952\" alt=\"\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe3.jpg 380w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe3-300x197.jpg 300w\" sizes=\"auto, (max-width: 380px) 100vw, 380px\" \/><\/figure><figure class=\"carousel-item\"><img loading=\"lazy\" decoding=\"async\" width=\"350\" height=\"250\" src=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe-1.jpg\" class=\"attachment-landscape_952 size-landscape_952\" alt=\"\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe-1.jpg 350w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe-1-300x214.jpg 300w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe-1-286x205.jpg 286w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/premio-sochipe-1-87x62.jpg 87w\" sizes=\"auto, (max-width: 350px) 100vw, 350px\" \/><\/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\/centro-genetica-genomica\/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\/centro-genetica-genomica\/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>La investigaci\u00f3n del <a href=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/\">Centro de Gen\u00e9tica Humana<\/a> <strong> \u201cB\u00fasqueda de nuevas mutaciones del gen CFTR en pacientes chilenos con Fibrosis Qu\u00edstica, mediante secuenciaci\u00f3n de \u00faltima generaci\u00f3n\u201d<\/strong>, obtuvo el <strong>segundo lugar<\/strong> en la categor\u00eda general del premio Dr. Alfredo Commentz L\u00f6ffler \u00a0otorgado por la <strong><a href=\"http:\/\/www.sochipe.cl\/\">Sociedad Chilena de Pediatr\u00eda (Sochipe). <\/a><\/strong><\/p>\n<p>El galard\u00f3n fue recibido por el doctor <strong>Guillermo Lay-Son<\/strong>, docente e investigador de la Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo, durante el 52\u00b0 Congreso Chileno de Pediatr\u00eda que se realiz\u00f3 entre los d\u00edas 26 y 30 de noviembre en Punta Arenas.<\/p>\n<p>En el encuentro el doctor Lay-Son tambi\u00e9n present\u00f3 los resultados de una experiencia pionera en nuestro pa\u00eds, consistente en el estudio mediante Cariotipo Molecular (<em>chromosomal microarray<\/em>) de un grupo de pacientes del Hospital Padre Hurtado con diferentes anomal\u00edas cong\u00e9nitas m\u00faltiples, asociadas o no a trastornos del crecimiento, desarrollo psicomotor o trastorno del espectro autista.<\/p>\n<p>Dicha investigaci\u00f3n se realiz\u00f3 en el laboratorio del Centro de Gen\u00e9tica Humana de nuestra Facultad, siendo la primera vez que se realiza esta t\u00e9cnica \u00edntegramente en Chile.<\/p>\n<p><strong>Test gen\u00e9tico e intolerancia a la lactosa<\/strong><\/p>\n<p>En tanto, la tecn\u00f3logo m\u00e9dico <strong>Karena Espinoza<\/strong> present\u00f3 el trabajo \u00ab<strong>Validaci\u00f3n de test gen\u00e9tico para el diagn\u00f3stico de intolerancia a la lactosa en poblaci\u00f3n pedi\u00e1trica\u00bb<\/strong>, el cual demostr\u00f3 que el test gen\u00e9tico es un m\u00e9todo diagn\u00f3stico simple y confiable para ni\u00f1os mayores de 6 a\u00f1os.<\/p>\n<p>Este trabajo se realiz\u00f3 en conjunto con gastroenter\u00f3logos pedi\u00e1tricos de la <strong><a href=\"http:\/\/portal.alemana.cl\/wps\/wcm\/connect\/internet\/home\">Cl\u00ednica Alemana de Santiago<\/a>.<\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Premian investigaci\u00f3n sobre mutaciones gen\u00e9ticas en ni\u00f1os con fibrosis qu\u00edstica.<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-621","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"<!-- This site is optimized 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