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[1] and is board certified in paediatrics and in genetics. During his studies he has been mentored by Paolo Durand,[2]Victor McKusick, Andrea Prader,[3]Andres Giedion,[4] Richard Gitzelmann,[5] Beat Steinmann,[6] and Sergio Fanconi.[7] He worked with Francesco Ramirez on genetic diseases in both Zurich and New York.[8] 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.[1] 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.[9] Since 2023, he is senior consultant at Genetica AG in Zurich and Lausanne.
According to Google Scholar, Superti-Furga has published more than 350 articles and holds an h-index of 89 (October 2024).[20]
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.[21]
Distinctions
He is the recipient of the 2015 Maroteaux Award of the International Skeletal Dysplasia Society,[22] the 2002 Cloëtta Prize by the Max Cloëtta Foundation,[23] and the 1995 Georg-Friedrich Götz prize of the Medical School of the University of Zurich.[22] In 2008, he was Santa Chiara visiting chair at University of Siena's School of Medicine.[24]
He has a member of the executive board of the Swiss Academy of Medical Sciences (SAMW),[25] and he has been president of the committee for pediatrics of the Pfizer Prize Foundation.[26] He is member of the German National Academy of Sciences Leopoldina.[27] as well as member of the scientific board of the Novartis Foundation for Medical-Biological Research.[28]
Selected works
Papers
Superti-Furga, Andrea; Hästbacka, Johanna; Wilcox, William R.; Cohn, Daniel H.; van der Harten, Hans J.; Rossi, Antonio; Blau, Nenad; Rimoin, David L.; Steinmann, Beat; Lander, Eric S.; Gitzelmann, Richard (January 1996). "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene". Nature Genetics. 12 (1): 100–102. doi:10.1038/ng0196-100. ISSN1061-4036. PMID8528239. S2CID31143438.
↑ Di Rocco, M.; Superti-Furga, A.; Durand, P.; Cerone, R.; Romano, C.; Bachmann, C.; Baumgartner, R. (1984), Addison, G. M.; Chalmers, R. A.; Divry, P.; Harkness, R. A. (eds.), "Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency", Organic Acidurias: Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984), vol.7, no.Suppl 2, Dordrecht: Springer Netherlands, pp.119–120, doi:10.1007/978-94-009-5612-4_34, ISBN978-94-009-5612-4, PMID6434860
↑ Hunziker, U. A.; Superti-Furga, A.; Zachmann, M.; Del Pozo, E.; Shmerling, D.; Prader, A. (August 1988). "Effects of the long-acting somatostatin analogue SMS 201–995 in an infant with intractable diarrhea". Helvetica Paediatrica Acta. 43 (1–2): 103–109. ISSN0018-022X. PMID2844705.
↑ Superti-Furga, Andrea; Tenconi, Romano; Clementi, Maurizio; Eich, Georg; Steinmann, Beat; Boltshauser, Eugen; Giedion, Andres (1998). "Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for ?Lumping?". American Journal of Medical Genetics. 78 (2): 150–154. doi:10.1002/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M. PMID9674906.
↑ Superti-Furga, A.; Steinmann, B.; Duc, G.; Gitzelmann, R. (May 1991). "Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation". European Journal of Pediatrics. 150 (7): 493–497. doi:10.1007/BF01958431. ISSN0340-6199. PMID1915502. S2CID2686393.
↑ Schmitt, B.; Bauersfeld, U.; Fanconi, S.; Wohlrab, G.; Huisman, T. A.; Bandtlow, C.; Baumann, P.; Superti-Furga, A.; Martin, E.; Arbenz, U.; Molinari, L. (August 1997). "The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study". Neuropediatrics. 28 (4): 191–197. doi:10.1055/s-2007-973699. ISSN0174-304X. PMID9309708. S2CID260240860.
↑ Superti-Furga, A.; Hästbacka, J.; Wilcox, W. R.; Cohn, D. H.; van der Harten, H. J.; Rossi, A.; Blau, N.; Rimoin, D. L.; Steinmann, B.; Lander, E. S.; Gitzelmann, R. (January 1996). "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene". Nature Genetics. 12 (1): 100–102. doi:10.1038/ng0196-100. ISSN1061-4036. PMID8528239. S2CID31143438.
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