Francesc Palau | Distinguished Investigator
SJD Barcelona Children's Hospital

I am a trained physician with an MD degree from 1982 and a PhD in human genetics from the University of Valencia, completed in 1989. From 1985 to 1988, I underwent pediatric training at the Children's Hospital of the La Fe University Hospital in Valencia, Spain, where I also specialized in clinical and human genetics. Since July 2024, I have been serving as a Distinguished Investigator at the Sant Joan de Déu Barcelona Children's Hospital and Research Institute. From 2015 to 2024, I served as head of the Department of Genetic and Molecular Medicine and director of the Pediatric Institute of Rare Diseases (IPER). I also directed the Sant Joan de Déu Research Institute until 2022 and worked as a consultant in rare diseases at the Hospital Clínic of Barcelona from 2017 to 2022. Additionally, I am a research professor at the Spanish Council for Scientific Research (CSIC, currently on leave) and an adjunct professor of pediatrics at the University of Barcelona. My scientific and medical interests center around studying the genetic, pathophysiological, and therapeutic aspects of neuromuscular diseases and neurodevelopmental disorders. A significant focus of our research in cell pathophysiology is the role of membrane contact sites (MCSs) in the pathogenic mechanisms underlying axonopathy in neurogenetic diseases. My research group is part of the Center for Network Biomedical Research in Rare Diseases (CIBERER), where I served as the scientific director from 2006 to 2016. Currently, I am the scientific coordinator for the Strategy on Rare Diseases within the Spanish National Health System, coordinator of Orphanet-Spain, and the Editor-in-Chief of the Orphanet Journal of Rare Diseases. The IPER/Genetic Medicine Department has joined the ERN ITHACA network, focusing on Rare Malformation Syndromes, Intellectual, and Other Neurodevelopmental Disorders. In recognition of my work, I received the ‘Reina Sofía Prize’ for the Prevention of Deficiencies in 2004, the Research Award from the Spanish Alliance of Rare Diseases (FEDER) in 2012, and the AELMHU Award for Best Professional Career in the field of Rare Diseases in 2022.