Andrea Superti-Furga
Professor Andrea Superti-Furga | |
---|---|
paediatrics, medicine | |
Institutions | University of Lausanne, Lausanne University Hospital (CHUV) |
Thesis | Banca di cellule umane mutanti (University of Genoa) (1984) |
Doctoral advisor | Paolo Durand |
Other academic advisors | Victor McKusick, Andrea Prader, Andres Giedion, Richard Gitzelmann, Beat Steinmann, Sergio Fanconi |
Website | www |
Andrea Superti-Furga (born 1959 in Milan) is a
Career
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, and obtained his MD degrees from Genoa in 1984 and from Zurich in 1992.[3] During his studies he has been mentored by Paolo Durand,[4] Victor McKusick, Andrea Prader,[5] Andres Giedion,[6] Richard Gitzelmann,[7] Beat Steinmann,[8] and Sergio Fanconi.[9] He worked with Francesco Ramirez on genetic diseases in both Zurich and New York.[10] 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.[3] From 2014 to 2015, he was director of the Department of Pediatrics in Lausanne. Since 2016, he has been professor and head of the Division of Genetic Medicine at the Lausanne University Hospital, Switzerland.[11]
Research
Superti-Furga's research activities have been focused on
According to Google Scholar, Superti-Furga has published more than 300 articles and holds an h-index of 79 (February 2022).[21]
Personal life
Superti-Furga is married to Sheila Unger, geneticist at the Lausanne University Hospital. He is the brother of Giulio Superti-Furga, a molecular and system biologist, director of the Center for Molecular Medicine in Vienna.[22]
Distinctions
He is the recipient of the 2015 Maroteaux Award of the International Skeletal Dysplasia Society,[23] the 2002 Cloëtta Prize by the Max Cloëtta Foundation,[24] and the 1995 Georg-Friedrich Götz prize of the Medical School of the University of Zurich.[23] In 2008, he was Santa Chiara visiting chair at University of Siena's School of Medicine.[25]
He is a member of the executive board of the Swiss Academy of Medical Sciences (SAMW),
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. S2CID 31143438.
- Pepin, Melanie; Schwarze, Ulrike; Superti-Furga, Andrea; Byers, Peter H. (9 March 2000). "Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type". New England Journal of Medicine. 342 (10): 673–680. PMID 10706896.
- Lausch, Ekkehart; Hermanns, Pia; Farin, Henner F.; Alanay, Yasemin; Unger, Sheila; Nikkel, Sarah; Steinwender, Christoph; Scherer, Gerd; Spranger, Jürgen; Zabel, Bernhard; Kispert, Andreas; Superti-Furga, Andrea (November 2008). "TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome". The American Journal of Human Genetics. 83 (5): 649–655. PMID 19068278.
- Lausch, Ekkehart; Janecke, Andreas; Bros, Matthias; Trojandt, Stefanie; Alanay, Yasemin; De Laet, Corinne; Hübner, Christian A; Meinecke, Peter; Nishimura, Gen; Matsuo, Mari; Hirano, Yoshiko (9 January 2011). "Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity". Nature Genetics. 43 (2): 132–137. S2CID 205357235.
- Vissers, Lisenka E.L.M.; Lausch, Ekkehart; Unger, Sheila; Campos-Xavier, Ana Belinda; Gilissen, Christian; Rossi, Antonio; Del Rosario, Marisol; Venselaar, Hanka; Knoll, Ute; Nampoothiri, Sheela; Nair, Mohandas (May 2011). "Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP". The American Journal of Human Genetics. 88 (5): 608–615. PMID 21549340.
- Unger, Sheila; Górna, Maria W.; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia (June 2013). "FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development". The American Journal of Human Genetics. 92 (6): 990–995. PMID 23684011.
- van Karnebeek, Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine (23 May 2016). "NANS-mediated synthesis of sialic acid is required for brain and skeletal development" (PDF). Nature Genetics. 48 (7): 777–784. S2CID 24953080.
- Simsek Kiper, Pelin O.; Saito, Hiroaki; Gori, Francesca; Unger, Sheila; Hesse, Eric; Yamana, Kei; Kiviranta, Riku; Solban, Nicolas; Liu, Jeff; Brommage, Robert; Boduroglu, Koray (30 June 2016). "Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle's Disease". New England Journal of Medicine. 374 (26): 2553–2562. PMID 27355534.
Books
- Spranger, Jürgen W.; Brill, Paula W.; Hall, Christine; Superti-Furga, Andrea; Unger, Sheila (12 November 2018). Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. Oxford University Press. ISBN 978-0-19-062665-5.
References
- ^ "Au chevet des Romands – Toute une galaxie veille sur les jeunes malades". 24 heures (in French). 2 May 2021. Retrieved 20 August 2021.
- ^ "Nomination du Prof. Andrea Superti-Furga". news.unil.ch. Retrieved 20 August 2021.
- ^ a b "Prof. Andrea Superti Furga, Switzerland | RE-ACT Congress". www.react-congress.org. Retrieved 20 August 2021.
- PMID 6434860
- PMID 2844705.
- PMID 9674906.
- S2CID 2686393.
- ^ PMID 2834369.
- S2CID 260240860.
- PMID 1672129.
- ^ "News (view all): IOB". iob.ch. Retrieved 31 August 2021.
- S2CID 31143438.
- PMID 19068278.
- PMID 23684011.
- S2CID 205357235.
- PMID 27355534.
- PMID 26598328.
- ^ "MIM 616854: Even Plus Syndrome". OMIM.
- S2CID 24953080.
- S2CID 231882012.
- ^ "Andrea Superti-Furga". scholar.google.it. Retrieved 20 August 2021.
- ^ "Management – CeMM". cemm.at. Retrieved 31 August 2021.
- ^ a b "List of Members". Nationale Akademie der Wissenschaften Leopoldina. Retrieved 20 August 2021.
- ^ "Cloëtta Prize | Max Cloëtta Stiftung". Retrieved 20 August 2021.
- ^ "seminars". www3.unisi.it. Retrieved 31 August 2021.
- ^ "Executive Board". Executive Board. Retrieved 20 August 2021.
- ^ "List of Members". Nationale Akademie der Wissenschaften Leopoldina. Retrieved 1 September 2021.
- ^ "Die Stiftung Pfizer Forschungspreis | pfizerforschungspreis.ch". www.pfizerforschungspreis.ch (in German). Retrieved 1 September 2021.
- ^ "Board". www.stiftungmedbiol.novartis.com. Retrieved 1 September 2021.
External links
- Andrea Superti-Furga publications indexed by Google Scholar
- Website of Lausanne University Hospital's Division of Genetic Medicine