{"id":40,"date":"2024-05-15T10:50:24","date_gmt":"2024-05-15T14:50:24","guid":{"rendered":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/?post_type=person&#038;p=40"},"modified":"2024-07-31T10:07:30","modified_gmt":"2024-07-31T14:07:30","slug":"ignacia-fuentes","status":"publish","type":"person","link":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/persona\/ignacia-fuentes\/","title":{"rendered":"Ignacia Fuentes"},"featured_media":43,"template":"","people_tax":[],"people_areas":[],"people_levels":[],"class_list":["post-40","person","type-person","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Ignacia Fuentes - Programa de Epiderm\u00f3lisis Bullosa<\/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\/programa-epidermolisis-bullosa\/persona\/ignacia-fuentes\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ignacia Fuentes - 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Universidad Cat\u00f3lica de Chile.<br \/>\nL\u00edneas de investigaci\u00f3n: Epidermolisis bulosa y gen\u00e9tica humana.<\/p>\n\t\t\t\t\t\t\t\t\t\t<p><strong>Intereses:<\/strong><\/p>\n<p>Mi principal inter\u00e9s en investigaci\u00f3n es entender los mecanismos moleculares de las enfermedades gen\u00e9ticas. Actualmente estoy trabajando en Epidermolisis Bulosa (EB), tambi\u00e9n conocida en Sudam\u00e9rica como \u201cpiel de cristal\u201d, una enfermedad monog\u00e9nica y altamente heterog\u00e9nea, tanto en su gen\u00e9tica como en su sintomatolog\u00eda. Mis objetivos son: (1) entender como el genotipo influencia el fenotipo en EB y (2) obtener un diagn\u00f3stico molecular preciso, r\u00e1pido y eficiente para los pacientes chilenos con EB. Para lograr esto ocupo una combinaci\u00f3n entre t\u00e9cnicas cl\u00e1sicas de biolog\u00eda molecular, secuenciaci\u00f3n masiva (NGS) y bioinform\u00e1tica. La investigaci\u00f3n que estoy efectuando se hace en conjunto con DEBRA-Chile, una fundaci\u00f3n compuesta por profesionales de la salud especializados en entregarles diagn\u00f3stico cl\u00ednico y tratamiento a los pacientes con EB.<\/p>\n<p><strong>Interests:<\/strong><\/p>\n<p>My main research interest is to understand the underlying molecular mechanisms of genetic diseases. Currently I am working on Epidermolysis bullosa (EB), also known as \u201cbutterfly children\u201d, a monogenic disease with high genetic and clinical heterogeneity. My goals are to (1) decipher how the genotype influences the phenotype in EB and (2) to obtain an accurate, fast and efficient molecular diagnosis for Chilean patients. To do so, I am using a combination of classic molecular biology, next generation sequencing technologies (NGS) and bioinformatic tools. The research I carry out is done in tight collaboration with DEBRA-Chile, a foundation consisting of a group of health care professionals specialized in giving clinical diagnoses and treatment to EB patients.<\/p>\n<p><strong>Reconocimientos:<\/strong><\/p>\n<ul>\n<li>2013 Jeff Schell prize otorgado al mejor estudiante de doctorado del Instituto Max Planck (MPIMP), Alemania.<\/li>\n<li>2012 Summa cum laude en la tesis de doctorado.<\/li>\n<li>2008 Beca de doctorado IMPRS (International Max Planck Research School).<\/li>\n<li>2007 Premio al mejor estudiante de la generaci\u00f3n, Bioqu\u00edmica 2007.<\/li>\n<\/ul>\n<p><strong>Afiliaciones<\/strong><\/p>\n<ul>\n<li>Miembro y Director de la Sociedad de Gen\u00e9tica de Chile (SOCHIGEN)<\/li>\n<li>Miembro de la Sociedad de Bioqu\u00edmica y Biolog\u00eda Molecular de Chile (SBBMCH)<\/li>\n<li>Miembro de la \u201cSociety of Investigative Dermatology\u201d, USA (SID)<\/li>\n<\/ul>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n"},"identifier":"2822fc387549bea8f78851dc13a196a0088543a9","has_credential":[],"given_name":"Ignacia","family_name":"Fuentes","name":"Ignacia Fuentes","job_title":"Investigadora","telephone":"","note":"Ph.D. en Biolog\u00eda Molecular, Instituto Max Planck y Universidad de Potsdam, Alemania; Bioqu\u00edmica, P. Universidad Cat\u00f3lica de Chile.\r\nL\u00edneas de investigaci\u00f3n: Epidermolisis bulosa y gen\u00e9tica humana.","im":"","_self_schedule":null,"_links":{"self":[{"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/people\/40","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/people"}],"about":[{"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/types\/person"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/media\/43"}],"wp:attachment":[{"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/media?parent=40"}],"wp:term":[{"taxonomy":"people_tax","embeddable":true,"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/people_tax?post=40"},{"taxonomy":"people_areas","embeddable":true,"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/people_areas?post=40"},{"taxonomy":"people_levels","embeddable":true,"href":"https:\/\/medicina.udd.cl\/programa-epidermolisis-bullosa\/wp-json\/wp\/v2\/people_levels?post=40"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}