{"id":188,"date":"2016-10-05T12:23:08","date_gmt":"2016-10-05T12:23:08","guid":{"rendered":"http:\/\/medicina.udd.cl\/doctorado\/?post_type=person&#038;p=188"},"modified":"2025-09-02T13:05:00","modified_gmt":"2025-09-02T17:05:00","slug":"gabriela-repetto","status":"publish","type":"person","link":"https:\/\/medicina.udd.cl\/doctorado\/persona\/gabriela-repetto\/","title":{"rendered":"Gabriela Repetto, MD"},"featured_media":2931,"template":"","people_tax":[],"people_areas":[],"people_levels":[],"class_list":["post-188","person","type-person","status-publish","has-post-thumbnail","hentry","people_list-nucleo-academico"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gabriela Repetto- Centro de Gen\u00e9tica y Gen\u00f3mica<\/title>\n<meta name=\"description\" content=\"La doctora Gabriela Repetto es la directora del Centro de Gen\u00e9tica y Gen\u00f3mica de la Facultad de Medicina CAS-UDD\" 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data-src=\"https:\/\/medicina.udd.cl\/doctorado\/files\/2025\/09\/gabriela-repetto-rb_-468x500.png\" data-srcset=\"https:\/\/medicina.udd.cl\/doctorado\/files\/2025\/09\/gabriela-repetto-rb_-468x500.png 468w, https:\/\/medicina.udd.cl\/doctorado\/files\/2025\/09\/gabriela-repetto-rb_-280x300.png 280w\" \/>\t\t\t<\/div>\n\t\t\t\t\t\t<div class=\"person-modal__data\">\n\t\t\t\t<h1 class=\"person-modal__name\">Gabriela Repetto, MD<\/h1>\n\t\t\t\t\t\t\t<span class=\"person-modal__description\">Directora del Programa de Enfermedades poco frecuentes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t<\/header>\n\t<div class=\"modal-container\">\n\t\t\t<div class=\"person-modal__content text\">\n\t\t\t\t\t\t\t\t\t\t<ul>\n<li>M\u00e9dico Cirujano, P. U. Cat\u00f3lica de Chile. Pediatra, University of Wisconsin-Madison (EEUU). Genetista y subespecialista en enfermedades Metab\u00f3licas, Children\u2019s Hospital Boston (EEUU), certificada por American Board of Medical Genetics.<\/li>\n<li>L\u00edneas de investigaci\u00f3n: Enfermedades Poco Frecuentes, Gen\u00f3mica en Medicina.<\/li>\n<\/ul>\n<p><strong>Intereses:<\/strong><\/p>\n<p>Dirijo el Centro de Gen\u00e9tica y Gen\u00f3mica de la Facultad de Medicina, que realiza actividades de docencia, investigaci\u00f3n, atenci\u00f3n cl\u00ednica (en Cl\u00ednica Alemana y Hospital Padre Hurtado) y extensi\u00f3n. Trabajo en la integraci\u00f3n de la gen\u00e9tica y gen\u00f3mica a la docencia de la Medicina, como un eje transversal a lo largo de pre y post grado. Investigo sobre enfermedades poco frecuentes, que son en su mayor\u00eda de causa gen\u00e9tica y causan discapacidad y muerte precoz, sobre todo en ni\u00f1os.\u00a0 Participo en el desarrollo e implementaci\u00f3n de ex\u00e1menes gen\u00e9ticos relevantes para la poblaci\u00f3n chilena, y en la educaci\u00f3n de los profesionales de la salud y la comunidad sobre su uso e interpretaci\u00f3n. Soy miembro del comit\u00e9 directivo de Global Genomic Medicine Collaborative (https:\/\/g2mc.org\/) que fomenta la implementaci\u00f3n de iniciativas de Medicina Gen\u00f3mica<\/p>\n<p><strong>Interests:<\/strong><\/p>\n<p>I direct the Center of Genetics and Genomics at the School of Medicine, which carries out teaching, research and clinical care (at Cl\u00ednica Alemana and Hospital Padre Hurtado) and community outreach. I work in the integration of genetics and genomics in medical curriculum, as a transversal thread along pre and post graduate education. My research focus is on rare disorders, that are mostly of genetic origin and causa disability and early deaths, specially in children. I participate in the development and implementation of genetic testing relevant for the Chilean population, and education of health professionals and the community about their use and interpretation. I am a member of the steering committee of the Global Genomic Medicine Collaborative (https:\/\/g2mc.org\/), that promotes the implementation of Genomic Medicine initiatives<\/p>\n<p><strong>Docencia:<\/strong><\/p>\n<ul>\n<li>Coordinadora Curso de Gen\u00e9tica Humana (2\u00b0 a\u00f1o Medicina)<\/li>\n<li>Participante en cursos de Farmacolog\u00eda, Pediatr\u00eda, Internados de Pediatr\u00eda y Ginecoobstetricia<\/li>\n<\/ul>\n<p><strong>Publicaciones seleccionadas:<\/strong><\/p>\n<ul>\n<li>Guo T, Repetto GM, McDonald-McGinn D Chung J\u2026.Morrow BE, on behalf of the International 22q11.2 Consortium\/Brain and Behavior Consortium.\u00a0 Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circ Cardiovasc Genet. 2017;10:e. DOI:10.1161\/CIRCGENETICS.116.001690<\/li>\n<li>Leon LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in Chilean patients with 22q11.2DS. Scientific Reports (2017) ;7: 1795 DOI:10.1038\/s41598-017-01896-w<\/li>\n<li>Eyheramendy S, Martinez FI, Manevy F, Vial C, Repetto GM. Genetic structure characterization of Chileans reflects historical immigration patterns. Nature Communications 6, Article number: 6472 doi:10.1038\/ncomms7472<\/li>\n<li>Cruces P, Diaz F, Puga A, Erranz B, Donoso A, Carvajal C, Wilhelm J, Repetto GM. Angiotensin-converting enzyme insertion\/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS. Intensive Care Med. 2012 Jan;38(1):113-9.<\/li>\n<li>Shamseldin H; Al-Shammari M; Alsheddi T; Salih M; Alkhaldi H; Kentab A; Repetto GM; Hashem M;\u00a0 Alkuraya F.\u00a0 Genomic Analysis of Mitochondrial Diseases in a Consanguineous Population Reveals Novel Disease Genes. J Med Genet. 2012 Apr;49(4):234-41<\/li>\n<li>Lay-Son G, Puga A, Astudillo P, Repetto GM; Collaborative Group of the Chilean National Cystic Fibrosis Program. Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations. J Cyst Fibros. 2011 Jan;10(1): 66-70<\/li>\n<li>Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM,\u00a0 Weese-Mayer DE. Later-onset Congenital Central Hypoventilation Syndrome Due to a Heterozygous 24-Polyalanine Repeat Expansion Mutation in the PHOX2B Gene. Acta Paediatrica 2009;\u00a0 98(1):192-5.<\/li>\n<li>Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004; 363(9412):852-9.<\/li>\n<\/ul>\n<p>Listado completo de publicaciones en https:\/\/scholar.google.cl\/citations?user=DGr9pFsAAAAJ&amp;hl=en<\/p>\n<p><strong>Reconocimientos:<\/strong><\/p>\n<ul>\n<li>100 Mujeres L\u00edderes 2011. (Otorgado por El Mercurio y Mujeres Empresarias)<\/li>\n<li>Profesor de Excelencia 2010 y 2012 Carrera de Medicina, Universidad del Desarrollo<\/li>\n<\/ul>\n<p><strong>Afiliaciones:<\/strong><\/p>\n<ul>\n<li>American Society of Human Genetics<\/li>\n<li>American College of Medical Genetics<\/li>\n<li>Global Alliance for Genomes and Health<\/li>\n<li>Global Genomic Medicine Collaborative<\/li>\n<li>Sociedad de Gen\u00e9tica de Chile<\/li>\n<\/ul>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n"},"identifier":"c63e9cf6c577a833588ead633de96685f38e73dd","has_credential":[],"given_name":"Gabriela","family_name":"Repetto, MD","name":"Gabriela Repetto, MD","job_title":"Directora del Programa de Enfermedades poco frecuentes","telephone":"","note":"","im":"","_self_schedule":null,"_links":{"self":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people\/188","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people"}],"about":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/types\/person"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/media\/2931"}],"wp:attachment":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/media?parent=188"}],"wp:term":[{"taxonomy":"people_tax","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_tax?post=188"},{"taxonomy":"people_areas","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_areas?post=188"},{"taxonomy":"people_levels","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_levels?post=188"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}