Portal de investigación
Víctor Manuel Martínez González
Malalties Minoritàries
h-index
28Currículum vitae
Graduated in medicine at the Universidad del Rosario, Bogotá, Colombia (2000), earned a firstdegree in clinical genetics at the Ramon & Cajal Hospital, Madrid (2006), and obtained a Ph.D.in molecular genetics at the Autonomous University of Madrid (2008). That same year, I joined the Centre for Biomedical Research Network on Rare Diseases (CIBERER) as a researcher at the Institute of Medical and Molecular Genetics (INGEMM) at Hospital Universitario La Paz in Madrid. From 2015 to 2022, I was the Head of the Vascular Malformations Section of the INGEMM, which has allowed me to be internationally recognized for applying state-of-the-art genetic diagnostic techniques to detect germinal and somatic mutations causing pathology.
Since 2022, I have been the Director of the Genomic Medicine Center at Corporació Sanitària ParcTaulí, where I am in charge of promoting the development of genomic medicine and transferringit to daily healthcare practice. I am also the Coordinator of the transversal area of Omics Sciences at the Parc Taulí Research and Innovation Institute (I3PT) and the Coordinator in Catalonia of theNetwork of Clinical Expertise Units (XUEC) for genetically based cognitive-behavioral minoritydiseases.
I have experience in addressing clinical and molecular diagnosis and genetic counseling forthe most complex disorders of genetic cause. My research includes many rarediseases with a high clinical and translational component, focusing on somatic mosaicism,overgrowth syndromes, vascular malformations, and genomic medicine. I have demonstratedmy ability to obtain funding, lead competitive projects, develop new experimental protocols,and lead and manage human teams, including the training of researchers.
I am a co-author of the Spanish translation of the Human Phenotype Ontology(HPO) terms and a collaborator of the CIBERER Non-Diagnosed Diseases (ENoD) program. I was thecreator and Coordinator of the Spanish Working Group on Cancer in Polimalformative GeneticSyndromes (2009-2017), with multiple national first-level participants. I am Coordinatorof the Working Group for the National Experts Network on Rare diseases (WP3) in theIMPaCT-Genómica project (Infrastructure for Precision Medicine associated with Scienceand Technology, ISCIII), and researcher in the IMPaCT-Crónicas project ONTOPREC(Implementation of ONTOlogies, taxonomies and standardization of chronic diseases inPRECision Medicine). I am also a researcher and member of the experts committee of the MEDIGENOMICS Public Procurement project (CPI-Comunidad de Madrid), which aims to design, build, and develop a unique, integrated, and expert service that combines the process of genomic studies of an individual in a single platform.
Métricas
Producción Científica
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Evolución de publicaciones por Cuartiles
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Factor de Impacto y Citas Totales
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Campos de Estudio
Producción Científica
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