{"id":2716,"date":"2019-04-24T20:13:12","date_gmt":"2019-04-25T01:13:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2716"},"modified":"2021-02-19T18:31:17","modified_gmt":"2021-02-19T18:31:17","slug":"lgmd-researcher-hartzell","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/","title":{"rendered":"INVESTIGADOR LGMD: H. Criss Hartzell"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:calc( 1400px + 0px );margin-left: calc(-0px \/ 2 );margin-right: calc(-0px \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:0px;--awb-margin-bottom-large:0px;--awb-spacing-left-large:0px;--awb-width-medium:100%;--awb-spacing-right-medium:0px;--awb-spacing-left-medium:0px;--awb-width-small:100%;--awb-spacing-right-small:0px;--awb-spacing-left-small:0px;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><figure class=\"wp-block-image\"><img decoding=\"async\" class=\"lazyload wp-image-2717\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27960%27%20height%3D%27720%27%20viewBox%3D%270%200%20960%20720%27%3E%3Crect%20width%3D%27960%27%20height%3D%27720%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2019\/04\/Hartzell-Criss.png\" alt=\"\" \/><\/figure>\n<p><strong>\"LA LGMD EN EL PUNTO DE MIRA DE LA INVESTIGACI\u00d3N\"<\/strong><\/p>\n<p><strong>INVESTIGADOR DE LGMD:\u00a0 <\/strong>\u00a0H. Criss Hartzell<\/p>\n<p><strong>Afiliaci\u00f3n:\u00a0 <\/strong>Facultad de Medicina de la Universidad Emory<\/p>\n<p><strong>Funci\u00f3n o cargo:\u00a0 <\/strong>Profesor<\/p>\n<p><strong>\u00bfQu\u00e9 educaci\u00f3n y formaci\u00f3n ha recibido para llegar a su puesto actual?<\/strong><\/p>\n<p>Licenciada en Qu\u00edmica y Biolog\u00eda por la Universidad Lawrence<\/p>\n<p>Doctorado en Biolog\u00eda por la Universidad Johns Hopkins.<\/p>\n<p>Investigaci\u00f3n postdoctoral en el Departamento de Neurobiolog\u00eda de la Facultad de Medicina de Harvard<\/p>\n<p><strong>\u00bfQu\u00e9 le llev\u00f3 a dedicarse a la investigaci\u00f3n y, en particular, al estudio de la distrofia muscular?<\/strong><\/p>\n<p>Desde que tengo uso de raz\u00f3n siempre me ha interesado la ciencia. En la universidad le\u00ed un art\u00edculo de Scientific American sobre la teor\u00eda del puente cruzado de la contracci\u00f3n muscular y me fascin\u00f3 la idea de que el m\u00fasculo era b\u00e1sicamente una m\u00e1quina molecular. En mi doctorado estudi\u00e9 los receptores de acetilcolina en la uni\u00f3n neuromuscular y descubr\u00ed que el n\u00famero de receptores de acetilcolina en la uni\u00f3n neuromuscular se reduc\u00eda en la miastenia grave. Fui becario de la asociaci\u00f3n de distrofia muscular como postdoctorado en Harvard.<\/p>\n<p><strong>\u00bfQu\u00e9 temas est\u00e1 estudiando?<\/strong><\/p>\n<p>\u00a0Estamos estudiando la prote\u00edna ANO5. Las mutaciones de ANO5 son las 4<sup>th<\/sup> causa\" m\u00e1s com\u00fan de la LGMD, pero no se sabe casi nada sobre qu\u00e9 hace la ANO5 o c\u00f3mo funciona. Creemos que interviene en la reparaci\u00f3n de la membrana muscular. Estudiamos este problema a nivel celular y molecular.<\/p>\n<p><strong>\u00bfC\u00f3mo ayudar\u00e1 su trabajo a los pacientes? \u00bfTiene un car\u00e1cter m\u00e1s cient\u00edfico o podr\u00eda convertirse en un tratamiento para la LGMD?<\/strong><strong>s o MD<\/strong><strong>s en general?<\/strong><\/p>\n<p>Creemos que comprender la biolog\u00eda molecular y celular b\u00e1sica de la ANO5 es un requisito previo para desarrollar terapias para esta forma de LGMD (2L). Tambi\u00e9n creemos que los conocimientos que obtengamos sobre c\u00f3mo se produce la reparaci\u00f3n de la membrana muscular proporcionar\u00e1n nuevas pistas para las terapias de otras LGMD.<\/p>\n<p><strong>\u00bfQu\u00e9 le gustar\u00eda que los pacientes y otras personas interesadas en la LGMD supieran sobre la investigaci\u00f3n (sus propios proyectos y sobre el campo en general)?<\/strong><\/p>\n<p>La investigaci\u00f3n b\u00e1sica es frustrantemente lenta porque partimos de una pizarra en blanco y necesitamos desarrollar nuevas herramientas. pero la gente de mi laboratorio es muy dedicada, trabaja 12 horas diarias y rara vez deja de pensar y preocuparse por c\u00f3mo resolver las preguntas a las que queremos dar respuesta. agradecemos el apoyo de los contribuyentes y donantes que financian nuestra investigaci\u00f3n.<\/p>\n<p><strong>\u00bfQu\u00e9 le inspira a seguir trabajando en este campo? <\/strong><\/p>\n<p>Tengo una personalidad obsesiva\/compulsiva y no puedo descansar hasta entender c\u00f3mo funcionan las cosas. Me inspiran las personas que padecen estas dolencias, que apoyan a sus compa\u00f1eros y trabajan para unificar a la comunidad LGMD.<\/p>\n<p><strong>\u00bfC\u00f3mo pueden los pacientes animarle y ayudarle en su trabajo?<\/strong><\/p>\n<p>\u00a0Uno de los principales obst\u00e1culos a los que nos enfrentamos en nuestra investigaci\u00f3n es el acceso a tejidos humanos. Aunque podemos aprender mucho utilizando modelos de rat\u00f3n y cultivos celulares, la comprensi\u00f3n de la enfermedad humana requiere el uso de tejido humano. Los pacientes que est\u00e1n dispuestos a proporcionar biopsias e informaci\u00f3n personal sobre la progresi\u00f3n de la enfermedad a\u00f1aden un enorme valor a nuestro programa de investigaci\u00f3n.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":4258,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,49,92],"tags":[],"class_list":["post-2716","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-lgmd2l","category-researcher"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>LGMD RESEARCHER: H. 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