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Proyectos

2016-2020 A connectomic neuroimaging study of the 22q11 deletion syndrome: a window into schizophrenia and its genetic causes. Fondecyt Regular 116. Investigador responsable N Crossley (PUC), Co investigadora G Repetto

2016-2019 Understanding host response to ANDV infection, immunological and transcriptomics approach. Fondecyt Regular 2016. Investigador respondable: Cecilia Vial.

2015-2016 “Desarrollo de líneas celulares de cáncer de vejiga relacionado a exposición a arsénico”. (IR: Mario Fernández). PMI. CoInvestigadora: A Ziegler

2015-2017 «Fortalecimiento y desarrollo de la investigación en biomedicina mediante la adquisición de un claster computacional». Fondequip. Luis León.

2015-2016 Proyecto Interno UDD “Structural analysis of missense mutations in the SHP2 protein using molecular dynamics”. IR: LL

2015 “Hands-on training in targeted proteomics techniques and data analysis at the leading German Cancer Research Center “REDES 140051. IR: A Ziegler

2014-2017 Determining the genetic basis of Epidermolysis bullosa symptoms through Genotype-Phenotype associations using Next Generation Sequencing.                                               Fondecyt de Iniciación 11140440 IR: Ignacia Fuentes

2014-2017 “The Role of Cyclin D1 Activity In The Regulation Of Autophagy And Senescence In Mammary And Gastric Epithelial Cells”. (IR: Nelson Brown). Fondecyt  1140389.

2014-2017 FONDECYT, Lecannelier A (PI), Funding Source: Fondecyt (March 2014 – March 2017), EXPLORANDO LA SENSIBILIDAD AL ESTRES EN INFANTES: UN ESTUDIO GENETICO, PSICOBIOLOGICO Y VINCULAR The goal of this project is to analyze the stress response in infants from the mother factors (care, introspection and sensitivity to stress) and child´s factors (genetics and patterns of attachment). Role: Co-investigator

2014-2015    Chromosome 22q11.2 microdeletion syndrome: a window into understanding developmental diseases of the heart and brain.  Canada-Latin America and the Caribbean Research Exchange Grants (LACREG) IR: G Repetto

2014-2015 Proyecto PMI “Desarrollo de un panel de mutaciones para el diagnóstico molecular de fibrosis quística específico para la población chilena” IR: LL CoI: GL

2014-2015 Proyecto PMI “Identificación de microRNAs como potenciales biomarcadores en el diagnóstico precoz de cardiomiopatía diabética asociada a la obesidad” CoI:LL

2014-2015 Proyecto PMI «Desarrollo de una novedosa plataforma tecnológica para diagnosticar enfermedades genéticas: uso de Epidermolisis Bulosa como prueba de concepto.» IR: Ignacia Fuentes

2014-2015 Proyecto PMI «Implementación del método de inmunofluorescencia para EB: Posicionando a Chile como foco regional en diagnóstico de EB» IR: Ignacia Fuentes

2014-2015 Proyecto Interno UDD «Caracterización genética de pacientes chilenos con Epidermolisis Bulosa de la Unión: búsqueda de mutaciones frecuentes y desarrollo de un test rápido de diagnóstico » IR: Ignacia Fuentes

2013-2017 Genetic modifiers of the cardiovascular phenotype of 22q11 microdeletion syndrome: Next generation sequencing of candidate regions identified by genome-wide association analysis. Fondecyt 1130392. IR G Repetto/ CoI UDD G Lay-Son, C Vial

2013-2017 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. NIH grant 1U01MH101723-01 (EEUU). Co Investigadora en Chile G Repetto

2013-2015 “Anomalías congénitas y trastornos del desarrollo: Evaluación de costo-efectividad de las nuevas herramientas diagnósticas”. Financiamiento: FONIS – 2013 – SA13I20321. IR: G Lay-Son; IA: C Vial; Col: G Repetto

2012-2015 Genetic variants related to presence of bladder urothelial carcinoma in a high-risk, arsenic-exposed population in northern Chile (Antofagasta): a genome-wide association study”. IR: Mario Fernández. Fondecyt Regular 1120987. CoInvestigadora: A Ziegler

2012-2013 PROYECTO INTERNO UDD Financiamiento: UDD – 2012 – 23400070, “ANÁLISIS MUTACIONAL DEL GEN CFTR EN PACIENTES CHILENOS CON FIBROSIS QUÍSTICA”. IR: G Lay-Son

2011-2014 FONDECYT 11110397 Vial, C (PI), Funding Source: FONDECYT HOST GENETIC FACTORS AND SEVERITY OF ANDES HANTAVIRUS INFECTION: A GENOME WIDE ASSOCIATION STUDYThe goal of this project is to genotipified patients with hantavirus cardiopulmonary syndrome that has a mild or severe clinical course, to search for association of SNPs or CNVs with the disease severity. Role: Principal Investigator

2011-2012 PROYECTO INTERNO UDD Funding Source: Universidad del Desarrollo (March 2011-February 2012) OSTEOCLAST PARTICIPATION ON PHENOTYPIC DIFFERENCES OF OSTEOGENESIS IMPERFECTA PATIENTS. The main goal of this project is to study if the phenotypic differences of OI patients can be explained by differences on the osteoclastogenesis process. Role: PI

2010-2015 NIH U19 AI045452 Mertz, G (PI) Funding Source: NIH/NIAID (UNM/Chile ICIDR),  ANDES VIRUS TRANSMISSION AND PATHOGENESIS IN CHILE. The goals of this project are the study of index cases with HCPS and their household contacts for person to person transmission evaluation; study of viral variants from human index, secondary cases and rodents; and to develop anti-Andes virus vaccine evaluation capacity.  Role: Co-Investigator