{"id":2240,"date":"2018-09-12T11:02:58","date_gmt":"2018-09-12T16:02:58","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2240"},"modified":"2018-09-12T11:02:58","modified_gmt":"2018-09-12T16:02:58","slug":"researcher-melissa-spencer","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/es\/lgmd2a\/2018\/09\/12\/researcher-melissa-spencer\/","title":{"rendered":"INVESTIGADORA LGMD: Melissa Spencer"},"content":{"rendered":"

LGMD \"Entrevista en el punto de mira de la investigaci\u00f3n\"<\/p>\n

Investigador de la LGMD<\/strong>: Melissa Spencer\"\"<\/a><\/p>\n

Afiliaci\u00f3n<\/strong>: UCLA Universidad de California Los \u00c1ngeles<\/p>\n

Funci\u00f3n o cargo: <\/strong>\u00a0Catedr\u00e1tico de Neurolog\u00eda, Director del Programa Neuromuscular, Codirector del Centro de Distrofia Muscular de Duchenne<\/p>\n

\u00bfQu\u00e9 educaci\u00f3n y formaci\u00f3n ha recibido para llegar a su puesto actual?<\/strong><\/p>\n

No me hab\u00eda interesado por la ciencia durante el instituto y hab\u00eda empezado la universidad como estudiante de danza. De hecho, s\u00f3lo curs\u00e9 una asignatura de ciencias en el instituto, Fisiolog\u00eda. En la universidad, tom\u00e9 una clase de fisiolog\u00eda general y me interes\u00e9 tanto por el tema que cambi\u00e9 de especialidad y me licenci\u00e9 en kinesiolog\u00eda, que es similar a la fisiolog\u00eda del ejercicio. El objetivo original era convertirme en fisioterapeuta, pero durante el m\u00e1ster me inici\u00e9 en la investigaci\u00f3n de laboratorio y ya no lo dej\u00e9.<\/p>\n

\u00bfQu\u00e9 le llev\u00f3 a dedicarse a la investigaci\u00f3n y, en particular, al estudio de la distrofia muscular?<\/strong><\/p>\n

Cuando empec\u00e9 la escuela de posgrado en 1991, hab\u00eda estado trabajando en un problema muy centrado en la ciencia b\u00e1sica, a saber, comprender el papel de las calpa\u00ednas en el m\u00fasculo esquel\u00e9tico. Durante ese tiempo, por casualidad asist\u00ed a un seminario sobre distrofia muscular de Duchenne y esa conferencia me llev\u00f3 a pensar que las calpa\u00ednas podr\u00edan estar implicadas en el proceso de la enfermedad. En este caso, la idea era que las calpa\u00ednas 1 y 2 (que son proteasas -prote\u00ednas que comen otras prote\u00ednas) eran demasiado activas y estaban masticando el m\u00fasculo. M\u00e1s tarde, cuando se identific\u00f3 la mutaci\u00f3n de la calpa\u00edna 3 como la causa subyacente de la LGMD2A, nos intrig\u00f3 porque en este caso existe una reducci\u00f3n<\/u> en la actividad de una forma particular de calpa\u00edna (calpa\u00edna 3) en contraposici\u00f3n a la hiperactividad. Empec\u00e9 a trabajar en esta forma de calpa\u00edna cuando se descubri\u00f3 por primera vez como causa de LGMD2A en 1994.<\/p>\n

\u00bfQu\u00e9 temas est\u00e1 estudiando?<\/strong><\/p>\n

Estamos intentando comprender la funci\u00f3n biol\u00f3gica normal de la calpa\u00edna 3 y c\u00f3mo las mutaciones en el gen de la calpa\u00edna 3 conducen a la LGMD2A. Se trata de un gran interrogante en este campo. Aunque hemos logrado comprender en cierta medida los diferentes procesos posteriores de la enfermedad, todav\u00eda no entendemos la funci\u00f3n biol\u00f3gica espec\u00edfica de la calpa\u00edna 3 y, por lo tanto, no podemos comprender completamente por qu\u00e9 las mutaciones causan la enfermedad. Actualmente, nos estamos centrando en dos enfoques terap\u00e9uticos. Identificamos un f\u00e1rmaco que muestra resultados positivos en el modelo de rat\u00f3n de LGMD2A y estamos desarrollando terapias g\u00e9nicas de LGMD2A. Tambi\u00e9n probamos bloqueadores de la miostatina en el modelo de rat\u00f3n como parte de nuestra financiaci\u00f3n de la Coalition to Cure Calpain 3 (C3).<\/p>\n

\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 LGMD o MD en general?<\/strong><\/p>\n

Hemos emprendido ambas v\u00edas de estudio: el examen de la ciencia b\u00e1sica que subyace a la enfermedad y otros tipos de estudios que podr\u00edan traducirse antes en tratamientos. Gran parte de lo que hemos hecho se ha centrado en los procesos b\u00e1sicos, ya que creo firmemente que podremos dise\u00f1ar mejores terapias si entendemos por qu\u00e9 se produce la enfermedad en primer lugar. Por hacer una analog\u00eda, imagine que tiene una gotera en el tejado. Puede intentar cubrirla con una lona o utilizar cubos para proteger el suelo, pero, en \u00faltima instancia, si puede reparar la gotera, la casa sufrir\u00e1 menos da\u00f1os.<\/p>\n

\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

Me gustar\u00eda que comprendieran que la investigaci\u00f3n es lenta y laboriosa, pero que con una inversi\u00f3n de fondos para apoyar la investigaci\u00f3n, encontraremos tratamientos. Tambi\u00e9n me gustar\u00eda que los pacientes supieran que contamos con un equipo de cient\u00edficos incre\u00edble y muy trabajador (especialmente los doctores Irina Kramerova, Natalia Ermolova, Chino Kumagai-Cresse y Jian Liu), que trabajan muy duro para encontrar un tratamiento para la LGMD2A.<\/p>\n

Tambi\u00e9n me gustar\u00eda que apreciaran la importancia de organizaciones como el C3, ya que las LGMD son enfermedades raras y la mejor manera de que las peque\u00f1as fundaciones apoyen los avances en este campo es financiando la investigaci\u00f3n. El C3, Jordan Boslego, Michele Wrubel y la Dra. Jenn Levy est\u00e1n haciendo un gran trabajo de apoyo a la comunidad, incluido el registro, que ser\u00e1 fundamental cuando estemos listos para empezar los ensayos cl\u00ednicos.<\/p>\n

\u00bfQu\u00e9 le inspira a seguir trabajando en este campo? <\/strong><\/p>\n

Los pacientes y la esperanza.<\/p>\n

\u00bfC\u00f3mo pueden los pacientes animarle y ayudarle en su trabajo?<\/strong><\/p>\n

Inscr\u00edbase en el registro de pacientes adecuado (aqu\u00ed encontrar\u00e1 una lista de registros de LGMD: https:\/\/www.lgmd-info.org\/international-lgmd-patient-registries\/<\/a>) y participar en proyectos de investigaci\u00f3n cuando est\u00e9n disponibles. Los proyectos de investigaci\u00f3n, cuando se recluten, se anunciar\u00e1n a trav\u00e9s de los registros de pacientes y en www.clinicaltrials.gov<\/a>.<\/p>\n

 <\/p>\n

* Por favor, dale al LIKE, COMENTA y COMPARTE este post para ayudar a concienciar sobre la LGMD.<\/p>\n

* Si desea m\u00e1s informaci\u00f3n sobre la distrofia muscular de cinturas o leer m\u00e1s \"Entrevistas en primer plano\", visite nuestro sitio web en https:\/\/www.lgmd-info.org\/<\/a><\/p>\n

#CureLGMD<\/a>
\n#LgmdDay2018<\/a><\/p>","protected":false},"excerpt":{"rendered":"

LGMD \u201cSpotlight Interview on Research\u201d LGMD Researcher:\u00a0 \u00a0Melissa Spencer Affiliation:\u00a0 […]<\/p>","protected":false},"author":1,"featured_media":2239,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,14,92],"tags":[],"class_list":["post-2240","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-lgmd2a","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER:\u00a0 \u00a0Melissa Spencer - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lgmd-info.org\/es\/lgmd2a\/2018\/09\/12\/researcher-melissa-spencer\/\" \/>\n<meta property=\"og:locale\" content=\"es_MX\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD RESEARCHER:\u00a0 \u00a0Melissa Spencer - 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