Director of the Paediatric Institute of Rare Diseases. SPAIN
Dr. Francesc Palau directs the Dept of Genetic & Molecular Medicine and Pediatric Institute of Rare Diseases (IPER) of the Sant Joan de Déu Chidlren’s Hospital where he is also director of the Sant Joan de Déu Research Institute. He is a consultant in rare diseases at the Clinical Institute of Medicine and Dermatology, Hospital Clínic of Barcelona. He is a visiting professor of Pediatrics at the Faculty of Medicine of the University of Barcelona and professor of research at the Spanish Council for Scientific Research (CSIC, on leave). His scientific and medical interest is oriented to the study of the genetic, pathophysiological and therapeutic bases of neuromuscular diseases and neurodevelopmental diseases. His research group belongs to the Center for Biomedical Network Research of Rare Diseases for which he was scientific director between 2006 and 2016. In 1982 he graduated in Medicine and Surgery from the University of Valencia. He is a specialist in Pediatrics, trained in the Children’s Hospital of the University Hospital La Fe in Valencia , where he began in the field of human and clinical genetics under the supervision of Dr. Felix Prieto. After obtaining a PhD in 1989 from the University of Valencia, he took postdoctoral studies at St. Mary's Hospital Medical School, University of London. In 1991 he returned to the La Fe Hospital where he practiced until 2000 at the Genetics Unit. He has been a researcher at the CSIC Institute of Biomedicine of Valencia (2000-12) and at the Príncipe Felipe Research Center (2013-15). His scientific contributions include participation in the collaborative group that discovers the gene responsible for Friedreich's ataxia in 1996 and the cloning and characterization Charcot-Marie-Tooth neuropathy genes, GDAP1 in 2002 and MORC2 in 2016. He has published his works in journals of international prestige such as Science, Nature Genetics, American Journal of Human Genetics, Human Molecular Genetics, Annals of Neurology, Brain, Neurology, Pediatric Research, Journal of Chemical Biology, , PLoS Genetics, PLoS One or Scientific Reports. He is scientific coordinator of the Strategy on Rare Diseases of the National Health System that is part of the Quality Plan of the National Health System of the Spanish Ministry of Health, Social Services and Equality. In 2004 he received the Queen Sofía Prize for the Prevention of Deficiencies and in 2012 he was recognized by the Spanish Federation of Rare Diseases with the research prize.