Mireia del Toro Riera I am a pediatrician, specialist in Pediatric Neurology and Coordinator of the Metabolic Unit. My activity focuses mainly on metabolic diseases, working to improve the diagnosis, treatment and quality of life of patients and their families. We participate in research in these group of diseases through different projects and clinical trials of advanced therapies. Since 2020 I coordinate the hospital's Rare Diseases program and its Commission. I also coordinate or participate in different external committees in the same field. Institutions of which they are part Pediatric Neurology Vall Hebron Institut de Recerca Doctor Paediatric Neurology Children's Hospital and Woman's Hospital Medical Coordinator Rare diseases Cross-departmental services LinkedIn Twitter Orcid Email Mireia del Toro Riera LinkedIn Twitter Orcid Email Institutions of which they are part Pediatric Neurology Vall Hebron Institut de Recerca Doctor Paediatric Neurology Children's Hospital and Woman's Hospital Medical Coordinator Rare diseases Cross-departmental services I am a pediatrician, specialist in Pediatric Neurology and Coordinator of the Metabolic Unit. My activity focuses mainly on metabolic diseases, working to improve the diagnosis, treatment and quality of life of patients and their families. We participate in research in these group of diseases through different projects and clinical trials of advanced therapies. Since 2020 I coordinate the hospital's Rare Diseases program and its Commission. I also coordinate or participate in different external committees in the same field.
I studied Medicine at the Autonomous University of Barcelona and did my Pediatrics residency at Vall d'Hebron University Hospital (1990-1994). It followed a specialization in Pediatric Neurology at the same hospital where I am consultant doctor since 1999. In 2004 I began my specific dedication to metabolic diseases coordinating the unit that in 2012 was consolidated as a Spanish reference unit (CSUR) and later in Europe (ERN) and Catalonia (XUEC) and participates in the Neonatal Screening program of Catalonia. I currently coordinate the group of lysosomal diseases both in Metab-ERN and in AECOM (Spanish Association of Metabolic Diseases). I participate in various research projects both collaborating with basic research groups and with registries and clinical trials of advanced therapies in metabolic diseases within the VHIR Pediatric Neurology research group. Since 2020 I coordinate the hospital's rare diseases program and its commission. Our center is the public hospital that cares for the largest number of patients with these diseases in Catalonia and it is a challenge to work together to improve the experience and quality of life of patients and their environment as well as to maintain the level of expertise they deserve. In the same area I coordinate the PADEICS of rare diseases and participate in the Advisory Commission of the Department of Health.
Projects Neurologia infantil IP: Alfons Macaya Ruíz Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Ainara Salazar Villacorta, 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 Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea IP: Alfons Macaya Ruíz Collaborators: Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián Funding agency: Instituto de Salud Carlos III Funding: 196020 Reference: PI20/01803 Duration: 01/01/2021 - 31/12/2023 Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores. IP: Belen Perez Dueñas Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Anna Marcé Grau, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián Funding agency: Instituto de Salud Carlos III Funding: 196020 Reference: PI18/01319 Duration: 01/01/2019 - 31/12/2022 Diagnostic and prognostic biomarkers in pediatric multiple sclerosis and related demyelinating disorders IP: Mar Tintore Subirana Collaborators: Cristina Auger Acosta, Alex Rovira Cañellas, Mireia del Toro Riera, Angela Vidal Jordana, Luciana Midaglia Fernandez, Georgina Arrambide García Funding agency: Fundació La Marató de TV3 Funding: 100000 Reference: 20141831 Duration: 22/05/2015 - 22/11/2018 Pagination Current page 1 Page 2 Page 3 Next page › Last page »
