{"id":1977,"date":"2009-05-31T00:00:00","date_gmt":"2009-05-31T07:00:00","guid":{"rendered":"https:\/\/vermont.salk.edu\/news-release\/genetic-re-disposition-combined-stem-cell-gene-therapy-approach-cures-human-genetic-disease-in-vitro\/"},"modified":"2018-01-26T14:34:04","modified_gmt":"2018-01-26T22:34:04","slug":"genetic-re-disposition-combined-stem-cell-gene-therapy-approach-cures-human-genetic-disease-in-vitro","status":"publish","type":"disclosure","link":"https:\/\/www.salk.edu\/es\/news-release\/genetic-re-disposition-combined-stem-cell-gene-therapy-approach-cures-human-genetic-disease-in-vitro\/","title":{"rendered":"Redisposici\u00f3n Gen\u00e9tica: Un enfoque combinado de terapia con c\u00e9lulas madre y genes cura una enfermedad gen\u00e9tica humana in vitro"},"content":{"rendered":"<p>La Jolla, CA\u2014Un estudio liderado por investigadores del Instituto Salk de Estudios Biol\u00f3gicos ha impulsado significativamente el campo de la medicina regenerativa, demostrando en principio que una enfermedad gen\u00e9tica humana puede curarse utilizando una combinaci\u00f3n de terapia g\u00e9nica y tecnolog\u00eda de c\u00e9lulas madre pluripotentes inducidas (iPSC). El estudio, publicado en la edici\u00f3n en l\u00ednea anticipada del 31 de mayo de 2009 de Nature, es un hito importante en el camino del laboratorio a la cl\u00ednica.\n<\/p>\n<p>\n\u201cYa han pasado diez a\u00f1os desde que las c\u00e9lulas madre humanas se cultivaron por primera vez en una placa de Petri\u201d, afirma el director del estudio. <a href=\"\/es\/faculty\/belmonte.html\/\">Juan-Carlos Izpis\u00faa Belmonte<\/a>, Ph.D., profesor en el Laboratorio de Expresi\u00f3n G\u00e9nica y director del Centro de Medicina Regenerativa de Barcelona (CMRB), Espa\u00f1a. \u201cLa esperanza en este campo siempre ha sido que seamos capaces de corregir una enfermedad gen\u00e9ticamente y luego generar c\u00e9lulas iPS que se diferencien en el tipo de tejido donde la enfermedad se manifiesta y llevarla a la cl\u00ednica\u201d.\u201d\n <\/p>\n<div class=\"imageCaption\"><img decoding=\"async\" src=\"https:\/\/www.salk.edu\/wp-content\/uploads\/2015\/03\/caption_20090531.jpg\" width=\"300\"\/><\/p>\n<p>Fibroblastos gen\u00e9ticamente corregidos de pacientes con anemia de Fanconi (mostrados en verde en la parte superior) se reprograman para generar c\u00e9lulas madre pluripotentes inducidas, que, a su vez, pueden diferenciarse en progenitores hematopoy\u00e9ticos libres de la enfermedad, capaces de producir c\u00e9lulas sangu\u00edneas in vitro (abajo: colonias eritroides).\n <\/p>\n<p>\nImagen: Cortes\u00eda del Dr. Juan-Carlos Belmonte, Salk Institute for Biological Studies.<\/p>\n<\/div>\n<p>\nSi bien varios estudios han demostrado la eficacia del enfoque en ratones, su viabilidad en humanos no se hab\u00eda establecido. El estudio de Salk ofrece la primera prueba de que esta tecnolog\u00eda puede funcionar en c\u00e9lulas humanas.\n <\/p>\n<p>\nEl equipo de Belmonte, en colaboraci\u00f3n con su colega del Instituto Salk, el Dr. Inder Verma, profesor del Laboratorio de Gen\u00e9tica, y con colegas del CMRB y del CIEMAT de Madrid (Espa\u00f1a), decidi\u00f3 centrarse en la anemia de Fanconi (AF), un trastorno gen\u00e9tico responsable de una serie de anomal\u00edas hematol\u00f3gicas que merman la capacidad del organismo para combatir las infecciones, transportar ox\u00edgeno y coagular la sangre. Causada por mutaciones en uno de los 13 genes de la anemia de Fanconi (AF), la enfermedad suele provocar insuficiencia de la m\u00e9dula \u00f3sea, leucemia y otros tipos de c\u00e1ncer. Incluso despu\u00e9s de recibir trasplantes de m\u00e9dula \u00f3sea para corregir los problemas hematol\u00f3gicos, los pacientes siguen teniendo un alto riesgo de desarrollar c\u00e1ncer y otras afecciones de salud graves.\n <\/p>\n<p>\nDespu\u00e9s de tomar c\u00e9lulas del cabello o de la piel de pacientes con anemia de Fanconi, los investigadores corrigieron el gen defectuoso en las c\u00e9lulas de los pacientes utilizando t\u00e9cnicas de terapia g\u00e9nica pioneras en el laboratorio de Verma. Luego, reprogramaron con \u00e9xito las c\u00e9lulas reparadas en c\u00e9lulas madre pluripotentes inducidas (iPS) utilizando una combinaci\u00f3n de factores de transcripci\u00f3n, OCT4, SOX2, KLF4 y cMYC. Las c\u00e9lulas FA-iPS resultantes eran indistinguibles de las c\u00e9lulas madre embrionarias humanas y de las c\u00e9lulas iPS generadas a partir de donantes sanos.\n <\/p>\n<p>\nDado que la insuficiencia de la m\u00e9dula \u00f3sea, como consecuencia de la disminuci\u00f3n progresiva del n\u00famero de c\u00e9lulas madre hematopoy\u00e9ticas funcionales, es la caracter\u00edstica m\u00e1s destacada de la anemia de Fanconi, los investigadores analizaron a continuaci\u00f3n si las c\u00e9lulas iPS espec\u00edficas de cada paciente pod\u00edan utilizarse como fuente de c\u00e9lulas madre hematopoy\u00e9ticas aptas para el trasplante. Descubrieron que las c\u00e9lulas iPS de pacientes con anemia de Fanconi se diferenciaban f\u00e1cilmente en c\u00e9lulas progenitoras hematopoy\u00e9ticas preparadas para convertirse en c\u00e9lulas sangu\u00edneas sanas.\n <\/p>\n<p>\n\u201cNo hemos curado\u201d\n <\/p>\n<p>\nAunque a\u00fan existen obst\u00e1culos para que esa teor\u00eda se convierta en pr\u00e1ctica \u2014en particular, evitar que las c\u00e9lulas reprogramadas induzcan tumores\u2014, en los pr\u00f3ximos meses Belmonte y Verma explorar\u00e1n formas de superar ese y otros impedimentos. En abril de 2009, recibieron $6.6 millones del Instituto de Medicina Regenerativa de California (CIRM) para llevar a cabo investigaciones dirigidas a traducir la ciencia b\u00e1sica en curas cl\u00ednicas.\n <\/p>\n<p>\n\u201cSi podemos demostrar que un enfoque combinado de iPS y terapia g\u00e9nica funciona en humanos, entonces no hay l\u00edmite para lo que podemos hacer\u201d, dice Verma.\n <\/p>\n<p>\nPara informaci\u00f3n sobre la comercializaci\u00f3n de esta tecnolog\u00eda, comun\u00edquese con la Oficina de Desarrollo Tecnol\u00f3gico de Salk al (858) 453-4100, Ext. 1278.\n <\/p>\n<p>\nLos investigadores que tambi\u00e9n contribuyeron al trabajo incluyen al primer autor \u00c1ngel Raya, as\u00ed como a Ignasi Rodr\u00edguez-Piz\u00e0, Rita Vassena, Mar\u00eda Jos\u00e9 Barrero, Antonella Consiglio, Eduard Sleep, Federico Gonz\u00e1lez, Gustavo Tiscornia, Elena Garreta, Trond Aasen y Anna Veiga del Centro de Medicina Regenerativa en Barcelona, Espa\u00f1a; Guillermo Guenechea, Susana Navarro, Paula R\u00edo y Juan Bueren de la Divisi\u00f3n de Hematopoyesis y Terapia G\u00e9nica, Centro de Investigaciones Energ\u00e9ticas, Medioambientales y Tecnol\u00f3gicas en Madrid, Espa\u00f1a; y Maria Castell\u00e0 y Jordi Surrall\u00e9s del Departamento de Gen\u00e9tica y Microbiolog\u00eda, Universitat Aut\u00f2noma de Barcelona.\n<\/p>\n<p>\n<strong>Acerca del Instituto Salk de Estudios Biol\u00f3gicos:<\/strong><br \/>\nEl Instituto Salk de Estudios Biol\u00f3gicos es una de las instituciones de investigaci\u00f3n b\u00e1sica m\u00e1s destacadas del mundo, donde un cuerpo docente de prestigio internacional investiga cuestiones fundamentales de las ciencias de la vida en un entorno \u00fanico, colaborativo y creativo. Centrados tanto en el descubrimiento como en la formaci\u00f3n de las futuras generaciones de investigadores, los cient\u00edficos del Salk realizan contribuciones revolucionarias a nuestra comprensi\u00f3n del c\u00e1ncer, el envejecimiento, el Alzheimer, la diabetes y las enfermedades cardiovasculares mediante el estudio de la neurociencia, la gen\u00e9tica, la biolog\u00eda celular y vegetal, y otras disciplinas relacionadas.\n<\/p>\n<p>\nLos logros del cuerpo docente han sido reconocidos con numerosos galardones, entre los que se incluyen premios Nobel y la pertenencia a la Academia Nacional de Ciencias. Fundado en 1960 por el Dr. Jonas Salk, pionero en la vacuna contra la poliomielitis, el Instituto es una organizaci\u00f3n independiente sin fines de lucro y un hito arquitect\u00f3nico.<\/p>","protected":false},"featured_media":0,"template":"","faculty":[115,85],"disease-research":[],"class_list":["post-1977","disclosure","type-disclosure","status-publish","hentry","faculty-inder-verma","faculty-juan-carlos-izpisua-belmonte"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic Re-disposition: Combined stem cell-gene therapy approach cures human genetic disease in vitro - Salk Institute for Biological Studies<\/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.salk.edu\/es\/news-release\/genetic-re-disposition-combined-stem-cell-gene-therapy-approach-cures-human-genetic-disease-in-vitro\/\" \/>\n<meta property=\"og:locale\" content=\"es_MX\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic Re-disposition: Combined stem cell-gene therapy approach cures human genetic disease in vitro - Salk Institute for Biological Studies\" \/>\n<meta property=\"og:description\" content=\"La Jolla, CA\u2014A study led by researchers at the Salk Institute for Biological Studies, has catapulted the field of regenerative medicine significantly forward, proving in principle that a human genetic disease can be cured using a combination of gene therapy and induced pluripotent stem (iPS) cell technology. 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