{"id":2006,"date":"2017-07-24T14:29:10","date_gmt":"2017-07-24T18:29:10","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?page_id=2006"},"modified":"2017-08-28T16:59:16","modified_gmt":"2017-08-28T19:59:16","slug":"epidermolisis-bulosa","status":"publish","type":"page","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/","title":{"rendered":"Epidermolisis bulosa"},"content":{"rendered":"<h5><\/h5>\n<p><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra.jpg\" rel=\"attachment wp-att-2096\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-2096 aligncenter\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg\" alt=\"logo debra\" width=\"200\" height=\"144\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg 300w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-768x551.jpg 768w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-1024x735.jpg 1024w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-286x205.jpg 286w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-87x62.jpg 87w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-960x689.jpg 960w\" sizes=\"auto, (max-width: 200px) 100vw, 200px\" \/><\/a><\/p>\n<h5><strong>DESCRIPCI\u00d3N<\/strong><\/h5>\n<p style=\"text-align: justify;\">Epidermolisis bullosa o EB es una enfermedad hereditaria poco frecuente. Su baja incidencia (estimada en 1 en 50.000 reci\u00e9n nacidos vivos), en conjunto con su alta heterogeneidad gen\u00e9tica y cl\u00ednica, hace muy dif\u00edcil estudiarla.<\/p>\n<p style=\"text-align: justify;\">En este proyecto nos enfocamos a estudiar variados aspectos de la enfermedad: desde la gen\u00e9tica\/gen\u00f3mica a la funci\u00f3n biol\u00f3gica de las mutaciones, llegando hasta posibles terapias. Algunos de los temas actualmente en desarrollo son:<\/p>\n<ul>\n<li style=\"text-align: justify;\">Estudio de la variabilidad gen\u00e9tica en pacientes con EB y su impacto en las manifestaciones cl\u00ednicas.<\/li>\n<li style=\"text-align: justify;\">Desarrollo de una base de datos \u201cuser friendly\u201d para facilitar el diagn\u00f3stico y pron\u00f3stico de pacientes.<\/li>\n<li style=\"text-align: justify;\">Implementaci\u00f3n de un diagn\u00f3stico molecular EB espec\u00edfico para nuestra poblaci\u00f3n, desde Chile a Sudam\u00e9rica.<\/li>\n<\/ul>\n<p>Adem\u00e1s de lo anterior, participamos en proyectos conjuntos con centros internacionales expertos en EB. Con ellos estamos colaborando en estudios relacionados con terapia g\u00e9nica, c\u00e1ncer, inflamaci\u00f3n y EB, entre otros.<\/p>\n<h5><strong>Equipo<\/strong><\/h5>\n<p>[persona id=\u00bb1254&#8243; align=\u00bbalignleft\u00bb]\u00a0[persona id=\u00bb1932&#8243; align=\u00bbalignleft\u00bb]<\/p>\n<h5><strong>COLABORADORES<\/strong><\/h5>\n<ul>\n<li>Debra Chile (<a href=\"http:\/\/debrachile.cl\">debrachile.cl<\/a>)<\/li>\n<li>Facultad de Odontolog\u00eda Universidad de Chile, Dra. Susanne Kr\u00e4mer<\/li>\n<li>Facultad de Ciencias Biol\u00f3gicas, PUC, Dra. Margarita Calvo<\/li>\n<li>Hospital de Ni\u00f1os de Cincinnati, USA<\/li>\n<li>EB-Haus, Austria<\/li>\n<li>Instituto Imagine, Francia, Dr. Alain Hovnanian<\/li>\n<li>Universidad de Thomas Jefferson, USA, Dr. Andrew South<\/li>\n<\/ul>\n<h5><strong>FINANCIAMIENTO<\/strong><\/h5>\n<ul>\n<li>FONDECYT de Iniciaci\u00f3n 2014 N\u00ba11140440. Determining the genetic basis of Epidermolysis bullosa symptoms through Genotype-Phenotype associations using Next Generation Sequencing. [2014-2017]<\/li>\n<\/ul>\n<h5><strong>PUBLICACIONES<\/strong><\/h5>\n<ol>\n<li>Von Bischoffshausen S, Ivulic D, \u00c1lvarez P, Schuffeneger V, Idiaquez J, Fuentes C, Morand\u00e9 P, Fuentes I, Palisson F, Benett D, &amp; Calvo M. (2017)\u00a0<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5405236\/\">Recessive Dystrophic Epidermolysis Bullosa results in painful small fibre neuropathy<\/a>, Brian 140 (5) 1238-1251<\/li>\n<li>Fuentes I., Campos M., Repetto G., Morand\u00e9 P., Yubero J, Gonzalez S., Klausegger A., Schnitzhofer P., Pohla-Gubo G., Bauer J. and Palisson F. (2017).\u00a0<a href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjd.14920\/abstract\" data-saferedirecturl=\"https:\/\/www.google.com\/url?hl=es&amp;q=http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjd.14920\/abstract&amp;source=gmail&amp;ust=1500988837275000&amp;usg=AFQjCNGAGeO4ps86nM7Fm-RMvfpbqDye6g\">Molecular epidemiology of Junctional Epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance<\/a>. Br J Dermatol. 176 (4): 1090-1092.<\/li>\n<li>Fuentes I., Stegemann S., Golczyk H., Karcher D. and Bock R. (2014)\u00a0<a href=\"http:\/\/www.nature.com\/nature\/journal\/v511\/n7508\/abs\/nature13291.html\" data-saferedirecturl=\"https:\/\/www.google.com\/url?hl=es&amp;q=http:\/\/www.nature.com\/nature\/journal\/v511\/n7508\/abs\/nature13291.html&amp;source=gmail&amp;ust=1500988837275000&amp;usg=AFQjCNHclX4MvBaPOpmlvls4U5Y-dqtllg\">Horizontal gene transfer of nuclear genomes in plant grafts. Horizontal genome transfer as an asexual path to the formation of new species<\/a>. Nature 51:232-235.<\/li>\n<li>Fuentes I., Karcher D. and Bock R. (2012)\u00a0<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Experimental+reconstruction+of+the+functional+transfer+of+intron-containing+plastid+genes+to+the+nucleus\" data-saferedirecturl=\"https:\/\/www.google.com\/url?hl=es&amp;q=http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term%3DExperimental%2Breconstruction%2Bof%2Bthe%2Bfunctional%2Btransfer%2Bof%2Bintron-containing%2Bplastid%2Bgenes%2Bto%2Bthe%2Bnucleus&amp;source=gmail&amp;ust=1500988837275000&amp;usg=AFQjCNEj895w-KCOBtiml7VacTt-oJ3UXA\">Experimental reconstruction of the functional transfer of intron-containing plastid genes to the nucleus<\/a>. Current Biology 22(9): 763-771.<\/li>\n<li>Roschzttardtz H., Fuentes I., V\u00e1squez M., Corval\u00e1n C., Le\u00f3n G., G\u00f3mez I., Araya A., Holuigue L., Vicente-Carbajosa J. and Jordana X. (2009)\u00a0<a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=A+nuclear+gene+encoding+the+iron-sulfur+subunit+of+mitochondrial+complex+II+is+regulated+by+B3+domain+transcription+factors+during+seed+development+in+Arabidopsis\" data-saferedirecturl=\"https:\/\/www.google.com\/url?hl=es&amp;q=http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term%3DA%2Bnuclear%2Bgene%2Bencoding%2Bthe%2Biron-sulfur%2Bsubunit%2Bof%2Bmitochondrial%2Bcomplex%2BII%2Bis%2Bregulated%2Bby%2BB3%2Bdomain%2Btranscription%2Bfactors%2Bduring%2Bseed%2Bdevelopment%2Bin%2BArabidopsis&amp;source=gmail&amp;ust=1500988837275000&amp;usg=AFQjCNECA2_tdhqGIQ31Z1Tsx2VRz48AXA\">A nuclear gene encoding the iron-sulfur subunit of mitochondrial complex II is regulated by B3 domain transcription factors during seed development in Arabidopsis<\/a>. Plant Physiology 150(1): 84-95.<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>DESCRIPCI\u00d3N Epidermolisis bullosa o EB es una enfermedad hereditaria poco frecuente. Su baja incidencia (estimada en 1 en 50.000 reci\u00e9n nacidos vivos), en conjunto con su alta heterogeneidad gen\u00e9tica y cl\u00ednica, hace muy dif\u00edcil estudiarla. En este proyecto nos enfocamos a estudiar variados aspectos de la enfermedad: desde la gen\u00e9tica\/gen\u00f3mica a la funci\u00f3n biol\u00f3gica de [&hellip;]<\/p>\n","protected":false},"author":42,"featured_media":0,"parent":27,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-wide-content.php","meta":{"footnotes":""},"class_list":["post-2006","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Epidermolisis bulosa - Centro de Gen\u00e9tica y Gen\u00f3mica<\/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:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Epidermolisis bulosa - Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"og:description\" content=\"DESCRIPCI\u00d3N Epidermolisis bullosa o EB es una enfermedad hereditaria poco frecuente. 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En este proyecto nos enfocamos a estudiar variados aspectos de la enfermedad: desde la gen\u00e9tica\/gen\u00f3mica a la funci\u00f3n biol\u00f3gica de [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/\" \/>\n<meta property=\"og:site_name\" content=\"Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"article:modified_time\" content=\"2017-08-28T19:59:16+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg\" \/>\n<meta name=\"twitter:label1\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/\",\"name\":\"Epidermolisis bulosa - Centro de Gen\u00e9tica y Gen\u00f3mica\",\"isPartOf\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/#primaryimage\"},\"thumbnailUrl\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg\",\"datePublished\":\"2017-07-24T18:29:10+00:00\",\"dateModified\":\"2017-08-28T19:59:16+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/#primaryimage\",\"url\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg\",\"contentUrl\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/logo-debra-300x215.jpg\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Inicio\",\"item\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Investigaci\u00f3n\",\"item\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Epidermolisis bulosa\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\",\"name\":\"Centro de Gen\u00e9tica y Gen\u00f3mica\",\"description\":\"\",\"inLanguage\":\"es\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Epidermolisis bulosa - Centro de Gen\u00e9tica y Gen\u00f3mica","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/epidermolisis-bulosa\/","og_locale":"es_ES","og_type":"article","og_title":"Epidermolisis bulosa - Centro de Gen\u00e9tica y Gen\u00f3mica","og_description":"DESCRIPCI\u00d3N Epidermolisis bullosa o EB es una enfermedad hereditaria poco frecuente. 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