Distinguished Investigator and Chair of the Scientific Advisory Committee of the Únicas SJD Center at the Sant Joan de Déu Children's Hospital in Barcelona, where he served as Head of the Genetic Medicine Service and Director of the Pediatric Institute for Rare Diseases. He is a researcher in the Neurogenetics and Molecular Medicine Group at the Sant Joan de Déu Research Institute and at CIBERER. He holds a degree in Medicine and Surgery and a PhD in Medicine/Human Genetics from the University of Valencia. He is a specialist in Pediatrics and an expert in medical genetics. He is a Research Professor at the Spanish National Research Council (CSIC) and Associate Professor of Pediatrics at the University of Barcelona. He has received, among others, the 2004 Queen Sofia Award for Research on Deficiencies. He is the scientific coordinator of the Rare Diseases Strategy of the National Health System and of Orphanet-Spain, and is editor-in-chief of the Orphanet Journal of Rare Diseases.