Francesc Palau Martínez

Biography

 Dr. Francesc Palau is Head of Genetic and Molecular Medicine and director of the Pediatric Institute for Rare Diseases (IPER) of the Hospital Sant Joan de Déu in Barcelona, where he also directs the Institute of Pediatric Research (IRP). His scientific work focuses on the study of genetic and pathophysiological bases of neuromuscular and neurodevelopmental diseases and translational research in rare diseases. The research group of Dr. Palau is part of the Center for Biomedical Network Research on Rare Diseases (CIBERER), which has been scientific director between October 2006 and February 2016. He is also research professor at the Institute of Biomedicine of Valencia (CSIC), currently leave in absence. In June 1982 he was graduated in Medicine and Surgery (MBChB) from the University of Valencia, where he obtained the doctorate in medicine (MD) in December 1982 and doctor of philosophy (PhD) in 1989. Dr. Palau was trained in pediatrics and human and clinical genetics at the University Hospital La Fe in Valencia (1985-88). In 1989 and 1990 he worked as visiting scientist and postdoc fellow at the Department of Biochemistry & Molecular Genetics of St. Mary's Hospital Medical School, University of London. From 1991-2000 he worked as a physician in the Genetics Unit of La Fe Hospital, accounting for the program on neurogenetics. Highlights of his scientific contributions in human genetics and disease are the participation in the discovery and cloning of genes related to Friedreich ataxia (FXN) and Charcot-Marie-Tooth neuropathy (GDAP1 and MORC2). He has published the contributions of his group in peer-review journals such as Science, Nature Genetics, American Journal of Human Genetics, Human Molecular Genetics, PLoS Genetics, Journal of Biological Chemistry, FASEB Journal, Annals of Neurology, Brain, Neurology, Pediatric Research y Disease Models & Mechanisms. Among the awards the Boehringer Mannheim Prize in Human Genetics 1992, the Ordesa Prize for Research in Pediatrics of the Spanish Pediatrics Association in 1993 and 1997, the Prize of Neurogenetics-Decade of the Brain 1997 of the Spanish Society of Neurology, the Reina Sofía Award on Prevention of Disabilities in 2004 and the 2012 Research Award of the Spanish Federation for Rare Diseases. Dr. Palau is or has been a member of international committees such as PLoS One academic editor, the Scientific Committee of the Fondation de Maladies Rares in France since 2012, the Scientific Program of Human Genetics 2012-15 European Society Committee and the European Union Committee of Experts of Rare Diseases (EUCERD) 2010-13. He is currently coordinator of the Strategy for Rare Diseases of the National Health System and coordinator Orphanet-Spain.

Research Interest

 His scientific work focuses on the study of genetic and pathophysiological bases of neuromuscular and neurodevelopmental diseases and translational research in rare diseases. The research group of Dr. Palau is part of the Center for Biomedical Network Research on Rare Diseases (CIBERER), which has been scientific director between October 2006 and February 2016. He is also research professor at the Institute of Biomedicine of Valencia (CSIC), currently leave in absence.