BMC is proud to present the new Editor-in-Chief for Orphanet Journal of Rare DIseases, Professor Francesc Palau.
Professor Palau is Head of the Department of Genetic and Molecular Medicine and Director of the Pediatric Institute of Rare Diseases (IPER) of the Sant Joan de Déu Children’s Hospital in Barcelona, where he also directs the research Institute. Professor Palau’s research group is part of the Center for Biomedical Network Research on Rare Diseases (CIBERER), for which he served as scientific director from October 2006 to February 2016. He is a research professor at the Spanish Council for Scientific Research (CSIC) and visiting professor of pediatrics in the University of Barcelona’s Faculty of Medicine and Health Sciences.
In June 1982, he graduated in Medicine and Surgery from the University of Valencia, where he later obtained an MD degree in December of that year and a PhD in 1989. He trained in pediatrics and human and clinical genetics at the University Hospital La Fe of Valencia, as resident fellow from 1985 to 1988. In 1989 and 1990, he worked as a postdoctoral visiting scientist in the Department of Biochemistry and Molecular Genetics at the University of London’s St. Mary's Hospital Medical School. From 1991 to 2000, he worked as a medical geneticist and adjunct physician in the Genetics Unit of La Fe Hospital, launching the institution’s neurogenetics program. In September 2000, he joined the CSIC at the Institute of Biomedicine of Valencia as an investigator, where he has been a research professor since 2008 (currently on leave of absence).
His scientific work focuses on the study of the genetic and pathophysiological bases of neuromuscular and neurodevelopmental diseases, and on translational research of rare diseases. Among Professor Palau’s contributions in human genetics and molecular medicine are his participation in the positional cloning and isolation of the gene responsible for Friedreich ataxia (FXN), the discovery of Charcot-Marie-Tooth disease genes GDAP1 and MORC2, and his work focusing on the role of the mitochondria in the pathophysiology of axonal neuropathies.
Among his recognitions are the Queen Sofia Award for the Prevention of Deficiencies (2004) and the 2012 Research Prize of the Spanish Alliance of Rare Diseases. Professor Palau has been a member of prestigious international committees such as the Scientific Committee of the Fondation de Maladies Rares in France (since 2012), the Scientific Program Committee of the European Society of Human Genetics (2012-2015), and the European Union Committee of Experts of Rare Diseases (EUCERD, 2010-2013). He is currently coordinator of the Strategy on Rare Diseases of the National Health System and the coordinator of Orphanet-Spain. He has served on many editorial boards as an editorial board member and Associate Editor.
BMC is excited to continue its partnership with INSERM to publish Orphanet Journal of Rare Diseases with Professor Palau, and looks forward to continuing a successful relationship!