I am a pediatrician, specialist in Pediatric Neurology and Coordinator of the Metabolic Unit. My activity focuses mainly on metabolic diseases, improving the diagnosis, treatment and quality of life of patients and their families. We participate in research in these groups 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 have been a 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, collaborating with both 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 centre 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.