Our group studies genetic diseases that confer a high predisposition to develop cancer. We study the genetics of these cancer syndromes, the molecular basis of the associated clinical manifestations and in particular, the molecular pathogenesis of the associated tumors. Among the different cancer syndromes, our group is focused in the Neurofibromatoses (NFs) and related diseases like the RASopathies. The activity of the group is centered in the genomics of NF-associated tumors and the generation of new models to understand their molecular pathogenesis. The group also performs the genetic diagnostics of Neurofibromatoses and RASopathies and participates of the CSUR of Phakomatoses Hospital Universitari Germans Trias i Pujol- Institut Català d'Oncologia (HGTiP-ICO). Finally, the group is also committed to the development of new tools for the genetic diagnostics of hereditary cancer jointly with the Hereditary Cancer Program at ICO.
The research performed by the group can be grouped in four areas that in all cases use wet and dry lab capabilities:
Cancer genomics and integrative biology
We perform genomic analyses at different levels (genomics, transcriptomics, epigenomics) and use different types of materials (primary tumors, primary cell lines, selected cell types, in vitro and in vivo models, iPSCs, etc) to investigate on tumor formation, development and dissemination, upon the integration of all this information by using bioinformatics.
Stem cell and iPSC-based models for cancer and regeneration
We investigate the identity and behavior of the cell type that originates benign tumors of the peripheral nervous system (PNS) associated to the NFs. We do that by generating iPSCs directly from NF-associated benign tumor cells and developing tumoroid models, from iPSCs or directly from tumors. We want to use iPSCs also to understand the formation of cells of the PNS and use them with regeneration purposes.
Molecular pathogenesis of the Neurofibromatoses and related diseases
We investigate the molecular basis of the Neurofibromatoses and RASopathies and their associated clinical traits. We do that by investigating on the clinical presentations of patients visited at the Phakomatoses CSUR HGTiP-ICO or other clinical settings, or by using models that facilitate experimental approaches.
Innovation for genetic diagnostics
Together with the Hereditary Cancer Program at ICO we are constantly trying to improve the genetic diagnostics of hereditary cancer. We try to develop cost-effective strategies that efficiently allow the identification and interpretation of disease-causing mutations using genomic and bioinformatic techniques.
Dr. Conxi Lázaro
Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL
Dr. Ignacio Blanco
Unitat de Consell Genètic, Institut Català d'Oncologia
Dr. Nancy Ratner and The NF1 Microarray Consortium
Divisions of Experimental Hematology and Biomedical Informatics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, OH, USA
Dr. Hildegard Kehrer-Sawatzki
Institute of Human Genetics, University of Ulm, Germany
Dr. Eric Legius
Center of Human Genetics, Catholic University of Leuven, Belgium
Department of Biostatistics, Section on Statistical Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
(+34) 93 554 30 67