{"id":589,"date":"2012-11-14T10:33:27","date_gmt":"2012-11-14T13:33:27","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-humana\/?p=589"},"modified":"2013-10-21T15:51:43","modified_gmt":"2013-10-21T18:51:43","slug":"cientifica-udd-expone-avances-de-investigacion-en-sindrome-velocardiofacial","status":"publish","type":"post","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/noticias\/2012\/11\/14\/cientifica-udd-expone-avances-de-investigacion-en-sindrome-velocardiofacial\/","title":{"rendered":"Cient\u00edfica UDD expone avances de investigaci\u00f3n en s\u00edndrome velocardiofacial"},"content":{"rendered":"<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/files\/2013\/07\/Karena-Espinoza-para-cv.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-906 alignright\" alt=\"Karena-Espinoza-para-cv\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/files\/2013\/07\/Karena-Espinoza-para-cv-252x300.jpg\" width=\"202\" height=\"240\" \/><\/a>El trabajo <strong>\u201cModificadores gen\u00e9ticos de las anomal\u00edas del paladar en el s\u00edndrome de microdeleci\u00f3n 22q11\u201d<\/strong>, desarrollado por investigadores del Centro de Gen\u00e9tica Humana de la Facultad de Medicina Cl\u00ednica Alemana Universidad del Desarrollo, caus\u00f3 gran impacto e inter\u00e9s en el Congreso Latinoamericano de Gen\u00e9tica realizado en Rosario, Argentina.<\/p>\n<p>Lo anterior se debe a que este proyecto de investigaci\u00f3n, financiado por Fondecyt, se est\u00e1 realizando a trav\u00e9s de un <strong>estudio de asociaci\u00f3n de genoma completo (GWAS)<\/strong>, t\u00e9cnica escasamente aplicada en el contexto latinoamericano, por su complejidad, rigurosidad y alto costo.<\/p>\n<p>Al encuentro asisti\u00f3 la <strong>Tecn\u00f3logo M\u00e9dico Karena Espinoza<\/strong>, quien explic\u00f3 que el trabajo sobre el s\u00edndrome velocardiofacial \u2013que est\u00e1 en su fase de resultados finales- se centra en una de las alteraciones gen\u00e9ticas comunes que afecta a una de cada 4000 personas.<\/p>\n<p>\u201cLa mayor\u00eda de los afectados tienen la misma deleci\u00f3n*. Pero entre un 70% y 80% tiene alteraciones en el paladar, y el resto no. Esto sugiere que hay factores que modifican el efecto de la deleci\u00f3n\u201d, dijo Espinoza y explic\u00f3 que \u201c<strong>un estudio de asociaci\u00f3n de genoma completo (GWAS) permite evaluar los polimorfismos o variantes gen\u00e9ticas en el genoma humano. La identificaci\u00f3n de esto, hace posible entender c\u00f3mo los genes contribuyen a la enfermedad\u201d.<\/strong><\/p>\n<p>La investigaci\u00f3n del Centro de Gen\u00e9tica considera un universo de 205 pacientes enrolados (ingresados al protocolo) procedentes de todo el territorio nacional.<\/p>\n<p>El Congreso Latinoamericano de Gen\u00e9tica tuvo alrededor de 500 participantes, de los cuales 100 presentaron en la modalidad de p\u00f3ster, entre ellos Karena Espinoza, quien act\u00faa como apoyo t\u00e9cnico en la investigaci\u00f3n, liderada por la <strong>doctora Gabriela Repetto<\/strong>.<\/p>\n<p><em>*Deleci\u00f3n: Mutaci\u00f3n gen\u00e9tica que consiste en la p\u00e9rdida de uno o m\u00e1s nucle\u00f3tidos de la secuencia del ADN. <\/em><em>(Fuente: Diccionario RAE)<\/em><\/p>\n<p><em> <a href=\"http:\/\/medicina.udd.cl\/centro-genetica-humana\/files\/2012\/11\/Abstract-Sindrome-Velocardiofacial-Karena-Espinoza.pdf\">Abstract Sindrome Velocardiofacial Karena Espinoza<\/a><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Proyecto Fondecyt se realiza con t\u00e9cnica de avanzada en Latinoam\u00e9rica, denominada GWAS.<\/p>\n","protected":false},"author":1,"featured_media":906,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-589","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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