{"id":1254,"date":"2014-05-30T16:36:47","date_gmt":"2014-05-30T20:36:47","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?post_type=person&#038;p=1254"},"modified":"2020-02-18T12:11:22","modified_gmt":"2020-02-18T15:11:22","slug":"ignacia-fuentes","status":"publish","type":"person","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/persona\/ignacia-fuentes\/","title":{"rendered":"Ignacia  Fuentes"},"featured_media":1255,"template":"","people_tax":[4037],"people_areas":[],"people_levels":[],"class_list":["post-1254","person","type-person","status-publish","has-post-thumbnail","hentry","people_tax-equipo","people_list-integrantes"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Ignacia Fuentes - Centro de Gen\u00e9tica y Gen\u00f3mica | UDD<\/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\/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>&nbsp;<\/p>\n<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>&nbsp;<\/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>&nbsp;<\/p>\n<p><strong>Publicaciones seleccionadas:<\/strong><\/p>\n<ul>\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) Recessive Dystrophic Epidermolysis Bullosa results in<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5405236\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5405236\/<\/a> painful small fibre neuropathy, 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). <a href=\"http:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjd.14920\/abstract\">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) <a href=\"http:\/\/www.nature.com\/nature\/journal\/v511\/n7508\/abs\/nature13291.html\">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) <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Experimental+reconstruction+of+the+functional+transfer+of+intron-containing+plastid+genes+to+the+nucleus\">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) <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\">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<li><\/li>\n<\/ul>\n<p><strong>Investigador Principal:<\/strong><\/p>\n<ul>\n<li>2018: \u00abInvestigating the role of skin microbiome, host immunity and infection in epidermolysis bullosa wound healing\u00bb. Financiamiento Fondecyt Regular.<\/li>\n<li>2014: \u201cDetermining the genetic basis of Epidermolysis bullosa symptoms through Genotype-Phenotype associations using next generation sequencing\u201d. Financiamiento: Fondecyt de Iniciaci\u00f3n.<\/li>\n<li>2014: \u201cCaracterizaci\u00f3n gen\u00e9tica de pacientes chilenos con Epidermolisis Bulosa de la Uni\u00f3n: b\u00fasqueda de mutaciones frecuentes y desarrollo de un test r\u00e1pido de diagn\u00f3stico.\u201d Financiamiento: Fondos Concursables Internos UDD 2014<\/li>\n<li>2014: \u201cDesarrollo de una novedosa plataforma tecnol\u00f3gica para diagnosticar enfermedades gen\u00e9ticas: uso de Epidermolisis Bulosa como prueba de concepto.\u201d Financiamiento: Fondos Concursables PMI-UDD<\/li>\n<li>2014: \u201cImplementaci\u00f3n del m\u00e9todo de inmunofluorescencia para EB: Posicionando a Chile como foco regional en diagn\u00f3stico de EB.\u201d Financiamiento: Fondos Concursables PMI-UDD<\/li>\n<\/ul>\n<p>&nbsp;<\/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>&nbsp;<\/p>\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<p>&nbsp;<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n"},"identifier":"b4eadb1f8d8bcce2c491dfd20d2ef98635b1b734","has_credential":[],"given_name":"Ignacia ","family_name":"Fuentes","name":"Ignacia  Fuentes","job_title":"","telephone":"","note":"Ph.D. en Biolog\u00eda Molecular, Instituto Max Planck y Universidad de Potsdam, Alemania; Bioqu\u00edmica, P. 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