{"id":633,"date":"2012-12-07T10:42:04","date_gmt":"2012-12-07T13:42:04","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-humana\/?p=633"},"modified":"2012-12-07T10:53:07","modified_gmt":"2012-12-07T13:53:07","slug":"investigadoras-del-cgh-presentan-avances-en-sindrome-de-microdelecion-22q11","status":"publish","type":"post","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/noticias\/2012\/12\/07\/investigadoras-del-cgh-presentan-avances-en-sindrome-de-microdelecion-22q11\/","title":{"rendered":"Investigadoras del CGH presentan avances en S\u00edndrome de Microdeleci\u00f3n 22q11"},"content":{"rendered":"<p>Las investigadoras del <a href=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/\">Centro de Gen\u00e9tica Humana<\/a> de la Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo, <strong>Gabriela Repetto y Cecilia Vial,<\/strong> participaron en el 62\u00b0 Congreso Anual de la <a href=\"http:\/\/www.ashg.org\/\">Sociedad Americana de Gen\u00e9tica Humana<\/a> (<em>American Society of Human Genetics<\/em>, ASHG) que se realiz\u00f3 en San Francisco, California (EEUU).<\/p>\n<p>All\u00ed presentaron parte de los resultados del proyecto \u201c<strong>Modificadores gen\u00e9ticos de las anomal\u00edas del paladar en el s\u00edndrome de microdeleci\u00f3n 22q11<\/strong>\u201d (<em>Genetic Modifiers of the 22q11 microdeletion syndrome: a genome-wide association study<\/em>), financiado por el Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico (Fondecyt) y que se encuentra en la etapa final de desarrollo.<\/p>\n<p>Las docentes UDD asistieron a este encuentro junto a otros siete mil participantes y formaron parte de las 4.000 presentaciones que se hicieron en este masivo encuentro cient\u00edfico.<\/p>\n<p>La investigaci\u00f3n sobre el S\u00edndrome Velocardiofacial se realiza a trav\u00e9s de un estudio de asociaci\u00f3n de genoma completo (GWAS), que busca identificar regiones gen\u00f3micas que pudieran explicar la variabilidad en la frecuencia y tipo de anomal\u00edas del paladar y cardiopat\u00edas cong\u00e9nitas en pacientes con esta enfermedad, que afecta a\u00a0 uno en 4.000 reci\u00e9n nacidos.<\/p>\n<p>La investigaci\u00f3n del Centro de Gen\u00e9tica, que dirige la doctora Repetto, considera un universo de 205 voluntarios ingresados al protocolo procedentes de todo el territorio nacional.<\/p>\n<p>Este proyecto ha sido posible gracias a la estrecha colaboraci\u00f3n con el<a href=\"http:\/\/www.calvomackenna.cl\/\"> <strong>Hospital Calvo Mackenna<\/strong><\/a> y la <strong>Fundaci\u00f3n Gantz<\/strong>.<\/p>\n<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/files\/2012\/12\/congreso-genetica-sf-2012.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter size-full wp-image-639\" title=\"Congreso Gen\u00e9tica EEUU 2012\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/files\/2012\/12\/congreso-genetica-sf-2012.jpg\" alt=\"\" width=\"400\" height=\"120\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/congreso-genetica-sf-2012.jpg 400w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2012\/12\/congreso-genetica-sf-2012-300x90.jpg 300w\" sizes=\"auto, (max-width: 400px) 100vw, 400px\" \/><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Gabriela Repetto y Cecilia Vial participaron en Congreso de la Sociedad Americana de Gen\u00e9tica Humana.<\/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-633","post","type-post","status-publish","format-standard","hentry","category-noticias"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - 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