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 the 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.
Members of the Group
Meritxell Carrió (mcarriol(ELIMINAR)@igtp.cat), researcher, wet lab coordinator
Elisabeth Castellanos (ecastellanos(ELIMINAR)@igtp.cat), researcher, genetic diagnostics coordinator
Núria Catasús (ncatasus(ELIMINAR)@igtp.cat), PhD student
Bernat Gel (bgel(ELIMINAR)@igtp.cat), researcher, dry lab coordinator
Helena Mazuelas (hmazuelas(ELIMINAR)@igtp.cat), PhD student
Miriam Magallón (mmagallon(ELIMINAR)@igtp.cat), PhD student
Jose Marcos Moreno (jmoreno(ELIMINAR)@igtp.cat), PhD student and at the Hereditary Cancer Group in Idibell
Alejandro Negro (anegro(ELIMINAR)@igtp.cat), lab technician
Inma Rosas (irosas(ELIMINAR)@igtp.cat), lab technician
Eduard Serra (eserra(ELIMINAR)@igtp.cat), researcher, group coordinator
The Barcelona Neurofibromatosis Group (BCN_NF Group)
The group is composed by different labs that collaborate together in the field of the Neurofibromatoses. The BCN_NF Group is composed by: the group of Dr. Conxi Lázaro (Hereditary Cancer Program, Catalan Institute of Oncology) who initiated the first NF Group at mid '90s; the group of Dr. Ignacio Blanco (Programa d'Assessorament i Genètica Clínica, HGTiP) currently the coordinator of the Phakomatoses CSUR HGTiP-ICO; the group of Dr. Cleofé Romagosa (Department of Pathology, Vall d'Hebron Hospital) pathologist specialist in sarcomas and expert in tumors of the PNS associated to NFs, and our group.
Phakomatoses CSUR HGTiP-ICO
The Phakomatoses CSUR HGTiP-ICO is a multidisciplinary clinical unit specialized in the management of adult patients with Phakomatoses (Neurofibromatosis, Tuberous Sclerosis, Von Hippel-Lindau, etc). The unit takes care of the management of complex Phakomatosis patients, and also provides advice to other clinicians on their Phakomatosis cases. Our group participates in the genetic diagnostics of these patients.
Hereditary Cancer Program at ICO
Since 2009 and under the collaborative effort "Joint Program ICO-IGTP on Hereditary Cancer" our group has been working with the Hereditary Cancer Program of the Catalan Institute of Oncology on the genetic diagnostics, the technological innovation for the genetic diagnostics and the research on hereditary cancer. We have participated in different collaborative grants and currently our group participates in the same CIBERONC group, led by Dr. Gabriel Capellà. (http://www.idibell.cat/en/content/hereditary-cancer)
Otorhinolaryngology Service HUGTiP
With the Otorhinolaryngology Service of the Campus Can Ruti, led by Dr. Francesc Roca-Ribas, we are collaborating in the creation of two main research areas, one centered in the research of Head and Neck Squamous Cell Carcinomas, and the other on the pathogenesis of vestibular Schwannomas, hearing loss and nerve regeneration. We have started different tissue collections that will provide the basis for the development of different research projects.
Generalitat de Catalunya, suport a les activitats dels grups de recerca (SGR)
1) Differentiation of NF1(+/-) and NF1 (-/-) iPS cells into cells of the Neural Crest-Schwann cell lineage: setting up conditions, characterization of the different differentiation steps and understanding epigenetic status of PNF-derived iPS cells
2) Identification of pathways triggered by Schwann cell-fibroblast interactions driving cutaneous neurofibroma growth
Tumores del sistema nervioso periférico en la Neurofibromatosis 1: susceptibilidad, origen, progresión y malignidad
Análisis genómico y bioinformático de los tumores asociados a la neurofibromatosis de tipo 1 (co-IPs: Bernat Gel and Eduard Serra)
Estudio PROCAVI2. Mejorando la evaluación del pronóstico y calidad de vida en la neurofibromatosis tipo 2 (co-IPs: Elisabeth Castellanos and Ignacio Blanco)
Generación y caracterización de células iPSC NF2(+/-) y NF2(-/-) a partir de Schwannomas vestibulares
|Asociación Chromo 22
Evaluación de la terapia génica antisentido para la NF2 en líneas celulares iPS derivadas de tumores asociadas a la Neurofibromatosis tipo 2
PI: Elisabeth Castellanos
Formas hereditarias y desarrollo de biomarcadores en cáncer colorrectal y digestivo
(IP: Dr. Gabriel Capella). Instituto de Salud Carlos III CIBERONC (CB16/12/00234)
Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades. The Undiagnosed Rare Disease Program of Catalonia (URDCat) (IP: Dra. Conxi Lázaro). (PERIS 2016-2020) (SLT002/16/00174 )
CARE, the Translational Program in Cancer Research is the first transversal program promoted by the Germans Trias i Pujol Research Institute (IGTP), and it aims to become a bridge for researchers in the field of cancer who want to bring basic and clinical research together, so that the knowledge and the tools generated in the laboratory can benefit the patient.
The Hereditary Cancer Group have published a study in Cell Reports in which they describe the generation of a model system based on induced pluripotent stem cells (iPSCs) that is able to generate human neurofibromas in mice. These tumours arise in people with the genetic disease Neurofibromatosis Type 1, a prevalent condition occurring in one in every 3,000 people. To date, a robust method for generating human neurofibromas in mice has been lacking, and the model developed opens up the possibility of testing new treatments for these tumours.
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