Intereses:
- Soy académica del Centro de Genética y Genómica de la Facultad de Medicina, que realiza actividades de docencia, investigación, atención clínica (en Clínica Alemana y Hospital Padre Hurtado) y extensión. Trabajo en la integración de la genética y genómica 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 mayoría de causa genética y causan discapacidad y muerte precoz, sobre todo en niños. Participo en el desarrollo e implementación de exámenes genéticos relevantes para la población chilena, y en la educación de los profesionales de la salud y la comunidad sobre su uso e interpretación. Soy miembro del comité directivo de Global Genomic Medicine Collaborative (https://g2mc.org/) que fomenta la implementación de iniciativas de Medicina Genómica.
Interests:
- I am a Faculty member at Center of Genetics and Genomics at the School of Medicine, which carries out teaching, research and clinical care (at Clínica 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.
Docencia:
- Coordinadora Curso de Genética Humana (2° año Medicina).
- Participante en cursos de Farmacología, Pediatría, Internados de Pediatría y Ginecoobstetricia.
Publicaciones seleccionadas:
- Guo T, Repetto GM, McDonald-McGinn D Chung J….Morrow BE, on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium. 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
- 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
- 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
- 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.
- Shamseldin H; Al-Shammari M; Alsheddi T; Salih M; Alkhaldi H; Kentab A; Repetto GM; Hashem M; Alkuraya F. Genomic Analysis of Mitochondrial Diseases in a Consanguineous Population Reveals Novel Disease Genes. J Med Genet. 2012 Apr;49(4):234-41
- 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
- Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, 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; 98(1):192-5.
- 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.
Listado completo de publicaciones en https://scholar.google.cl/citations?user=DGr9pFsAAAAJ&hl=en
Reconocimientos:
- 100 Mujeres Líderes 2011. (Otorgado por El Mercurio y Mujeres Empresarias).
- Profesor de Excelencia 2010 y 2012 Carrera de Medicina, Universidad del Desarrollo.
Afiliaciones:
- American Society of Human Genetics.
- American College of Medical Genetics.
- Global Alliance for Genomes and Health.
- Global Genomic Medicine Collaborative.
- Sociedad de Genética de Chile.