Francesc Palau

Francesc Palau directs the Department of Genetic Medicine and the Pediatric Institute for Rare Diseases (IPER) of the Sant Joan de Déu Children’s Hospital (HSJD) of Barcelona. He is visiting professor of Pediatrics at the University of Barcelona. In 1982 he earned MBChB graduate and MD degrees from the University of Valencia. He is a specialist in pediatrics formed at La Fe University Hospital in Valencia, where he was trained in human genetics. He obtained a PhD degree in 1989 at the University of Valencia and performed postdoctoral studies at St. Mary's Hospital Medical School in London. In 1991 he returned to the La Fe Hospital where he served until 2000 as a clinical geneticist. He has been research professor at the Institute of Biomedicine of Valencia, CSIC, and scientific director of the Center for Biomedical Network Research on Rare Diseases (CIBERER). Its scientific and medical interest is oriented towards the study of genetics, pathophysiological and therapeutics of neuromuscular and neurodevelopmental diseases. Among his scientific contributions it highlights the participation in the discovery of Friedreich ataxia and Charcot-Marie-Tooth disease genes by either positional cloning or whole exome studies. At HSJD he is currently implementing a comprehensive program addressed to ameliorate health care of children with rare and undiagnosed diseases based on patient-centered multidisciplinary clinics, clinical and functional genomics, and translational research.