{"id":2316,"date":"2018-08-02T17:19:50","date_gmt":"2018-08-02T21:19:50","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?post_type=person&#038;p=2316"},"modified":"2020-02-25T09:50:21","modified_gmt":"2020-02-25T12:50:21","slug":"gonzalo-encina","status":"publish","type":"person","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/persona\/gonzalo-encina\/","title":{"rendered":"Gonzalo Encina"},"featured_media":2317,"template":"","people_tax":[4037,4035],"people_areas":[],"people_levels":[],"class_list":["post-2316","person","type-person","status-publish","has-post-thumbnail","hentry","people_tax-equipo","people_tax-profesor","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>Gonzalo Encina - 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\/persona\/gonzalo-encina\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gonzalo Encina - 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El an\u00e1lisis bioinform\u00e1tico e interpretaci\u00f3n cl\u00ednica de las variantes gen\u00e9ticas ayudar\u00e1n a descubrir y clasificar nuevas EPoF en Chile, e identificar genes y variantes gen\u00e9ticas asociadas a cada condici\u00f3n. Buscamos contribuir a comprender mejor los mecanismos patog\u00e9nicos, a crear herramientas que mejoren la tasa diagn\u00f3stica y disminuyan tiempos y costos de diagn\u00f3stico, y a\u00a0 generar conocimiento cient\u00edfico y cl\u00ednico sobre el perfil gen\u00e9tico de pacientes chilenos con EPoF, generando descubrimientos de impacto nacional e internacional.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Interests.<\/strong><\/p>\n<p>My scientific and professional interest is to discover new genes and genetic variants associated with rare diseases in Chilean patients with unknown diagnosis, by New Generation Sequencing (NGS) of exomes. The bioinformatic analysis and clinical interpretation of the genetic variants will help us to discover and classify new rare diseases in Chile, and identify genes and genetic variants associated with each condition. We aim to contribute to a better understanding of the underlying pathogenic mechanisms, to create tools that improve the diagnostic rate and reduce diagnosis times and costs, and to generate scientific and clinical knowledge about the genetic profile of Chilean patients with rare diseases, generating knowledge of national and international impact.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Publicaciones destacadas<\/strong><\/p>\n<ul>\n<li>Castro M, Moya-Beltr\u00e1n A, Covarrubias PC, Gonzalez M, Cardenas JP, Issotta F, Nu\u00f1ez H, Acu\u00f1a LG, Encina G, Holmes DS, Johnson DB, Quatrini. R, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Draft+genome+sequence+of+the+type+strain+of+the+sulfur-oxidizing+acidophile%2C+Acidithiobacillus+albertensis+(DSM+14366)\">Draft genome sequence of the type strain of the sulfur-oxidizing acidophile, Acidithiobacillus albertensis (DSM 14366)<\/a>, Stand Genomic., Sci. 12:77, 2017.<\/li>\n<li>Quinones LA, Lavanderos MA, Cayun JP, Garcia-Martin E, Agundez JA, Caceres DD, Roco AM, Morales JE, Herrera L, Encina G, Isaza CA, Redal MA, Larovere L, Soria NW, Eslava-Schmalbach J, Castaneda-Hernandez G, Lopez-Cortes A, Magno LA, Lopez M, Chiurillo MA, Rodeiro I, Castro de Guerra D, Teran E, Estevez-Carrizo F, Lares-Assef I, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Perception+of+the+usefulness+of+drug%2Fgene+pairs+and+barriers+for+pharmacogenomics+in+Latin+America\">Perception of the usefulness of drug\/gene pairs and barriers for pharmacogenomics in Latin America<\/a>, Curr Drug Metab., 15(2):202-8, 2014.<\/li>\n<li>Hurtado C, Encina G, Wielandt AM, Z\u00e1rate AJ, Castro M, Carrillo K, Kronberg U, L\u00f3pez-K\u00f6stner F, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=KRAS+gene+somatic+mutations+in+Chilean+patients+with+colorectal+cancer\">KRAS gene somatic mutations in Chilean patients with colorectal cancer<\/a>, Rev Med Chil., 142(11):1407-14, 2014<\/li>\n<li>Castillo K, Valenzuela V, Matus S, Nassif M, O\u00f1ate M, Fuentealba Y, Encina G, Irrazabal T, Parsons G, Court FA, Schneider BL, Armentano D, Hetz C, <a href=\"https:\/\/www.nature.com\/articles\/cddis2013421\">Measurement of autophagy flux in the nervous system in vivo<\/a>, Cell Death Dis., 14;4:e917, 2013.<\/li>\n<li>Torres M, Encina G, Soto C, Hetz C, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Abnormal+calcium+homeostasis+and+protein+folding+stress+at+the+ER%3A+A+common+factor+in+familial+and+infectious+prion+disorders\">Abnormal calcium homeostasis and protein folding stress at the ER: A common factor in familial and infectious prion disorders<\/a>, Commun Integr Biol., 4(3):258-61, 2011.<\/li>\n<li>Encina G, Ezquer F, Conget P, Israel Y, <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Insulin+is+secreted+upon+glucose+stimulation+by+both+gastrointestinal+enteroendocrine+K-cells+and+L-cells+engineered+with+the+preproinsulin+gene\">Insulin is secreted upon glucose stimulation by both gastrointestinal enteroendocrine K-cells and L-cells engineered with the preproinsulin gene<\/a>. Biol Res., 44(3):301-5, 2011.<\/li>\n<li><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n"},"identifier":"c3c2318a096f9a54c306bb9f2783440aae9414e1","has_credential":[],"given_name":"Gonzalo","family_name":"Encina","name":"Gonzalo Encina","job_title":"","telephone":"","note":"Ph.D. Ciencias Biom\u00e9dicas, Universidad de Chile.\r\nBioqu\u00edmica, Universidad de Chile.\r\nL\u00ednea de investigaci\u00f3n: Gen\u00f3mica de Enfermedades poco Frecuentes.\r\n","im":"","_self_schedule":null,"_links":{"self":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/people\/2316","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/people"}],"about":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/types\/person"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/media\/2317"}],"wp:attachment":[{"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/media?parent=2316"}],"wp:term":[{"taxonomy":"people_tax","embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/people_tax?post=2316"},{"taxonomy":"people_areas","embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/people_areas?post=2316"},{"taxonomy":"people_levels","embeddable":true,"href":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/wp-json\/wp\/v2\/people_levels?post=2316"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}