{"id":1850,"date":"2014-05-14T15:08:57","date_gmt":"2014-05-14T19:08:57","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?p=1223"},"modified":"2014-05-14T15:08:57","modified_gmt":"2014-05-14T19:08:57","slug":"investigadores-del-centro-de-genetica-y-genomica-imparten-conferencias","status":"publish","type":"post","link":"https:\/\/medicina.udd.cl\/icim\/2014\/05\/14\/investigadores-del-centro-de-genetica-y-genomica-imparten-conferencias\/","title":{"rendered":"Investigadores del Centro de Gen\u00e9tica y Gen\u00f3mica imparten conferencias"},"content":{"rendered":"<p>En el marco de las actividades de extensi\u00f3n de los investigadores del <strong>Centro de Gen\u00e9tica y Gen\u00f3mica<\/strong> de la <strong>Facultad de Medicina CAS-UDD<\/strong>, los doctores<strong> Gabriela Repetto y Guillermo Lay-Son<\/strong> fueron invitados a dar conferencias relacionadas con sus estudios y l\u00edneas de investigaci\u00f3n.<\/p>\n<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2013\/07\/Guillermo-Layson-para-cv.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-904 alignright\" alt=\"Guillermo-Layson-para-cv\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2013\/07\/Guillermo-Layson-para-cv-264x300.jpg\" width=\"185\" height=\"210\" \/><\/a>El doctor Lay-Son particip\u00f3 en la reuni\u00f3n cl\u00ednica del <strong>Servicio de Pediatr\u00eda<\/strong> del <a href=\"http:\/\/www.calvomackenna.cl\/\"><strong>Hospital Calvo Mackenna<\/strong><\/a> realizada el pasado 7 de mayo, en la cual expuso sobre las aplicaciones de microarrays cromos\u00f3micos.<\/p>\n<p>Esta nueva estrategia, tambi\u00e9n conocida como cariotipo molecular, ha sido recomendada por el American College of Medical Genetics como el examen de laboratorio de primera l\u00ednea para la evaluaci\u00f3n de pacientes con anomal\u00edas cong\u00e9nitas y\/o discapacidad cognitiva.<\/p>\n<p>El Centro de Gen\u00e9tica y Gen\u00f3mica realiza este test desde hace dos a\u00f1os y ya se han analizado muestras de m\u00e1s de 50 pacientes.<\/p>\n<p>El doctor Lay-Son, en conjunto con otros investigadores, se encuentra en la actualidad realizando un estudio de an\u00e1lisis de costo-efectividad \u00a0en el marco de un proyecto Fonis.<\/p>\n<p>Por su parte, la doctora Repetto dict\u00f3 dos conferencias orientadas a entregar los resultados de una d\u00e9cada de investigaci\u00f3n en s\u00edndrome de microdeleci\u00f3n de cromosoma 22q11.2.<\/p>\n<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2013\/07\/Gabriela-Repetto-para-cv.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-892 alignleft\" alt=\"Gabriela-Repetto-para-cv\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2013\/07\/Gabriela-Repetto-para-cv-276x300.jpg\" width=\"193\" height=\"210\" \/><\/a>Una de ellas se realiz\u00f3 el 9 de mayo y cont\u00f3 con la asistencia de investigadores y estudiantes de postgrado del <strong>Programa de Gen\u00e9tica Humana del ICBM<\/strong> de la <a href=\"http:\/\/www.uchile.cl\/\"><strong>Universidad de Chile<\/strong><\/a>. En tanto, el 12 de mayo expuso ante los genetistas cl\u00ednicos de la <strong>Rama de Gen\u00e9tica<\/strong> de la <a href=\"http:\/\/www.sochipe.cl\/ver2\/\"><strong>Sociedad Chilena de Pediatr\u00eda<\/strong><\/a>.<\/p>\n<p>Se estima que la deleci\u00f3n tiene una frecuencia de 1 cada 4000 personas, y es una causa de cardiopat\u00edas cong\u00e9nitas, anomal\u00edas del paladar y sicosis. Los pacientes muestran amplia variabilidad cl\u00ednica, y los miembros del Centro de Gen\u00e9tica y Gen\u00f3mica, en colaboraci\u00f3n con investigadores internacionales, est\u00e1n en b\u00fasqueda de factores que expliquen dicha variabilidad.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Los doctores Gabriela Repetto y Guillermo Lay-Son expusieron sus estudios sobre s\u00edndrome de deleci\u00f3n 22q11 y aplicaciones de microarrays cromos\u00f3micos, respectivamente.<\/p>\n","protected":false},"author":42,"featured_media":1190,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[4],"tags":[],"class_list":["post-1850","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 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Investigadores del 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