Andrea Superti-Furga

Superti-Furga was educated at the German School of Milan in Milan, where he obtained his Abitur in 1978. He studied medicine at the Universities of Milan, Genoa, and Zurich, obtained his MD degrees from Genoa in 1984 and from Zurich in 1992 Victor McKusick, Andrea Prader, Andres Giedion, Richard Gitzelmann, Beat Steinmann, and Sergio Fanconi. He worked with Francesco Ramirez on genetic diseases in both Zurich and New York. In 2002, he was appointed professor for Molecular Pediatrics at the University of Lausanne, before moving as a professor and chairman of the Department of Pediatrics to the University of Freiburg, Germany in 2005. In 2010, he was awarded the Leenaards Chair of Excellence in Pediatrics at the University of Lausanne. From 2014 to 2015, he was director of the Department of Pediatrics in Lausanne. From 2016 to 2023, he has been head of Genetic Medicine at the Lausanne University Hospital, Switzerland. Since 2023, he is senior consultant at Genetica AG in Zurich and Lausanne. == Research ==

Superti-Furga's research activities have been focused on inborn errors of metabolism, inherited disorders of connective tissue, genetic bone disorders and skeletal dysplasias, dysmorphology, neurodevelopment, and bioinformatics. He was involved in the discovery of the molecular and biochemical basis of a number of genetic disorders, such as the Ehlers-Danlos syndrome type IV related to collagen type III, the TBX15-related Cousin syndrome, the FAM111A-related disorders Kenny-Caffey syndrome and Osteocraniostenosis, the tartrate-resistant acid phosphatase(ACP5)-related spondyloenchondrodysplasia, the SFRP4-related Pyle disease, the HSPA9-related EVEN-PLUS syndrome, sialic acid deficiency related to NANS, the malformation disorders related to EN1 (gene), and the EN1-regulating lncRNA element, MAENLI, and the TIMES syndrome related to the VRAC channel subunit LRRC8C. According to Google Scholar, Superti-Furga has published more than 350 articles and holds an h-index of 89 (October 2024). == Personal life ==

Superti-Furga is married to geneticist Sheila Unger, MD. He is the brother of Giulio Superti-Furga, a molecular and system biologist, director of the Center for Molecular Medicine in Vienna. == Distinctions ==

He is the recipient of the 2015 Maroteaux Award of the International Skeletal Dysplasia Society, the 2002 Cloëtta Prize by the Max Cloëtta Foundation, and the 1995 Georg-Friedrich Götz prize of the Medical School of the University of Zurich. He has a member of the executive board of the Swiss Academy of Medical Sciences (SAMW), and he has been president of the committee for pediatrics of the Pfizer Prize Foundation. He is member of the German National Academy of Sciences Leopoldina. as well as member of the scientific board of the Novartis Foundation for Medical-Biological Research. == Selected works ==

Papers • • • • • • • • Books • == References ==