Belen Perez Dueñas Sóc Facultatiu Especialista en Neurologia Pediàtrica a l'Hospital Universitari Vall d'Hebron i Investigadora Principal en Trastorns del Moviment Pediàtrics a l'Institut de Recerca Vall d'Hebron – VHIR. El meu treball té com a objectiu millorar la qualitat assistencial i promoure la recerca de les malalties neurològiques que afecten la infància. Institutions of which they are part Head of group Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca Doctor Paediatric Neurosurgery Children's Hospital and Woman's Hospital Belen Perez Dueñas Institutions of which they are part Head of group Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases Vall Hebron Institut de Recerca Doctor Paediatric Neurosurgery Children's Hospital and Woman's Hospital Sóc Facultatiu Especialista en Neurologia Pediàtrica a l'Hospital Universitari Vall d'Hebron i Investigadora Principal en Trastorns del Moviment Pediàtrics a l'Institut de Recerca Vall d'Hebron – VHIR. El meu treball té com a objectiu millorar la qualitat assistencial i promoure la recerca de les malalties neurològiques que afecten la infància.
M'he format com a pediatra i especialista en Neurologia Infantil a l'Hospital Sant Joan de Déu de Barcelona, i des de l'any 2017 treballo com a Facultatiu Especialista en Neurologia Pediàtrica a l'Hospital Universitari Vall d'Hebron.La meva carrera com a investigadora es basa en l'estudi de malalties genètiques i neurometabòliques que causen distonia i altres trastorns del moviment en la infància. Sóc Doctora en Medicina per la Universitat de Barcelona, investigadora del CIBER de Malalties Rares, del Grup de Recerca en Neurociències i Metabolisme Pediatric de l'AGAUR i investigadora principal en el Grup de Neurologia Pediàtrica de l'Institut de Recerca Vall d'Hebron. He dirigit diverses tesis doctorals, i projectes finançats per l'Institut de Salut Carlos III, La Marató de TV3 i entitats privades i associacions de pacients. Estic acreditada en Recerca per l'Agència de Qualitat Universitària des de l'any 2014. He publicat més de 100 articles científics, gairebé la meitat en revistes de Primer Quartil, i moltes com a autor sènior.He fet carrera docent com a professor mèdic associat al Departament de Pediatria, Universitat de Barcelona durant el període 2011-2017. També he format part de comitès d'organització de congressos internacionals i com a directora de Jornades de Formació sobre malalties neurometabòliques i trastorns del moviment. Sóc membre del comitè d'acreditació de la Societat Espanyola de Neurologia pediàtrica, i coordino el grup de Trastorns del Moviment Pediàtriques d'aquesta societat.
Research lines Precision Genetic Diagnosis Application of new genetic diagnostic tools such as Whole Genome Sequencing, RNAseq, or Optical Genome Mapping to optimize the diagnosis of patients with various motor disorders, including neuromuscular diseases, dystonias, and other movement disorders. IP: David Gómez Andrés, Anna Marcé Grau, Belen Perez Dueñas Molecular Basis of Dystonia: The SGCE Paradigm In collaboration with the Molecular Physiology of Synapses group at the Sant Pau Research Institute, led by Dr. Àlex Bayés, a mouse model of myoclonic dystonia caused by defects in the SGCE gene has been created. Using this animal model and human samples, we study the brain expression pattern of SGCE and its role in synapses and the proper establishment of neuronal connections. The goal is to understand the pathophysiological mechanism underlying dystonia and its potential relationship with other genes that trigger this movement disorder. IP: Belen Perez Dueñas, Anna Marcé Grau Deep Brain Stimulation for the Treatment of Dystonia Deep brain stimulation (DBS) is a highly effective symptomatic treatment for various forms of childhood-onset dystonia. However, there is significant variability in its short- and long-term clinical efficacy. Factors contributing to this dystonia-related variability may be radiological, genetic, or surgical and can be effectively analyzed in the preoperative process. Analyzing these factors will allow for personalized DBS adaptation and optimization of its clinical benefits. IP: Belen Perez Dueñas Digital Biomarker Study in Neuropediatric Diseases Digital tools provide a unique opportunity to continuously and objectively monitor pediatric patients with neurological disorders. This project aims to identify and validate digital biomarkers using wearable sensors, video analysis, movement pattern analysis, and artificial intelligence applied to clinical data. The ultimate goal is to improve diagnosis, monitoring, and personalized treatment for children with complex neurological diseases. IP: David Gómez Andrés, Belen Perez Dueñas Projects PReDICT: Pediatric Stroke Rare Disorders: Integrative Diagnosis and Treatment using Multi-Omics and Deep Learning IP: Belen Perez Dueñas Collaborators: Marta Codina Solà, Maria Mar Hernandez Guillamon, Anna Rosell Novel, David Gómez Andrés Funding agency: Instituto de Salud Carlos III Funding: 185165.07 Reference: PMPER24/00021 Duration: 01/01/2025 - 31/12/2026 Predictores de eficacia clínica, genética y radiológica en niños y adolescentes con distonía tratados mediante estimulación cerebral profunda IP: Belen Perez Dueñas Collaborators: Anna Marcé Grau, Manel Alberich Jordà, Ana Laura Cazurro Gutierrez, Lucy Dougherty de Miguel Funding agency: Instituto de Salud Carlos III Funding: 140000 Reference: PI24/01083 Duration: 01/01/2025 - 31/12/2027 TACTIC: Explorando soluciones a los retos de salud mediante ciencia disruptiva, terapias avanzadas y medicina de sistemas IP: Begoña Benito Villabriga Collaborators: Carmen Escudero Iriarte, Laia Ventura i Expósito, Susana Otero Romero, Ignacio Ferreira González, José Antonio Barrabés Riu, Carlos Nos Llopis, Pablo Velasco Puyó, Jose Fernando Rodríguez Palomares, María Rosario Pérez- Torres Lobato, Sunny Malhotra Sareen, Belen Perez Dueñas, Jaume Sastre Garriga, Joan López Hellin, Antonia Sambola Ayala, Jordi Rio Izquierdo, Nuria Rivas Gandara, Jordi Perez Rodon, Aroa Soriano Fernández, Manuel Comabella Lopez, Antonio Rodríguez Sinovas, Gisela Teixido Tura, Antonia Pijuan Domenech, Roser Ferrer Costa, Joaquin Seras Franzoso, Carmen Tur Gomez, Maria Cristina Díaz de Heredia Rubio, Laia Yañez Bisbe, Julia German Cortes, Maria Jose Pérez García, Miguel Segura Ginard, Diego Baranda Martínez-Abasca, Cristina Auger Acosta, Neus Bellera Gotarda, Herena Eixarch Ahufinger, M Mar Mañu Pereira, Deborah Pareto Onghena, Lorena Valero Arrese, Aitor Uribarri Gonzalez, Jordi Bañeras Rius, Alex Rovira Cañellas, Mar Tintore Subirana, Bruno García del Blanco, Maria Teresa Salcedo Allende, Marisol Ruiz Meana, Ana Belén Méndez Fernández, Xavier Montalban Gairín, Simon Schwartz Navarro, Anna Llort Sales, Carmen Espejo Ruiz, Raquel Hladun Alvaro, Angels Alcina Mila, Sandra Mancilla Zamora, Zamira Vanessa Diaz Riascos, Ana Zabalza de Torres, Marc Miquel Moltó Abad, Javier Inserte Igual, Luciana Midaglia Fernandez, Elizabeth Pando Rau, Gabriela Guillén Burrieza, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Alvaro Cobo Calvo, Alvaro Calabuig Goena, Joaquin Castillo Justribo, Lydia Dux-Santoy Hurtado, Lucas Moreno Martín-Retortillo, Andres Miguez Gonzalez, Josep Roma Castanyer, Laura Dos Subirá, Nicolás Miguel Fissolo, Maria Nazarena Pizzi, Tian Tian, Fernanda Raquel Da Silva Andrade, Diana Fernandes de Rafael, Andrea Guala Funding agency: Instituto de Salud Carlos III Funding: 2494527.53 Reference: FORT23/00034 Duration: 01/01/2024 - 31/12/2027 Neurologia infantil IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Neurologia infantil, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 01171 Duration: 01/01/2022 - 30/06/2025 Pagination Current page 1 Page 2 Page 3 Next page › Last page »
