Andrea Superti-Furga Explained

Honorific Prefix:Professor
Andrea Superti-Furga
Birth Place:Milano, Italy
Citizenship:Swiss and Italian
Fields:Genetics, paediatrics, medicine
Workplaces:University of Lausanne, Lausanne University Hospital (CHUV)
Education:Medicine
Alma Mater:University of Milan, University of Genoa, University of Zurich, University of Freiburg
Thesis Title:Banca di cellule umane mutanti (University of Genoa)
Thesis Year:1984
Doctoral Advisor:Paolo Durand
Academic Advisors:Victor McKusick, Andrea Prader, Andres Giedion, Richard Gitzelmann, Beat Steinmann, Sergio Fanconi
Awards:2015 Maroteaux Award, 2002 Cloëtta Prize
Spouse:Sheila Unger
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Andrea Superti-Furga (born 1959 in Milan) is a Swiss-Italian pediatrician, geneticist and molecular biologist. He is the head of the Division of Genetic Medicine at the Lausanne University Hospital (CHUV) and a professor at the Faculty of Medicine and Biology of the University of Lausanne.[1] [2]

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. During his studies he has been mentored by Paolo Durand, 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.[9] 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.[10]

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 genetic disorders, such as the Ehlers-Danlos syndrome type IV related to collagen type III,[6] the sulfate transporter (SLC26A2)-related chondrodysplasias,[11] the TBX15-related Cousin syndrome,[12] the FAM111A-related disorders Kenny-Caffey syndrome and Osteocraniostenosis,[13] the tartrate-resistant acid phosphatase(ACP5)-related spondyloenchondrodysplasia,[14] the SFRP4-related Pyle disease,[15] the HSPA9-related EVEN-PLUS syndrome,[16] [17] sialic acid deficiency related to NANS[18] and the malformation disorders related to EN1 (gene) and the EN1-regulating lncRNA element, MAENLI.[19]

According to Google Scholar, Superti-Furga has published more than 300 articles and holds an h-index of 79 (February 2022).[20]

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.[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. In 2008, he was Santa Chiara visiting chair at University of Siena's School of Medicine.[24]

He is a member of the executive board of the Swiss Academy of Medical Sciences (SAMW),[25] and member of the German National Academy of Sciences Leopoldina.[26] He is president of the committee for pediatrics of the Pfizer Prize Foundation[27] as well as member of the scientific board of the Novartis Foundation for Medical-Biological Research.[28]

Selected works

Papers

Books

External links

Notes and References

  1. Web site: Au chevet des Romands – Toute une galaxie veille sur les jeunes malades. 2021-08-20. 24 heures. 2 May 2021 . fr.
  2. Web site: Nomination du Prof. Andrea Superti-Furga. 2021-08-20. news.unil.ch.
  3. 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. 0018-022X. 2844705.
  4. 10.1002/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M . Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for ?Lumping? . 1998 . Superti-Furga . Andrea . Tenconi . Romano . Clementi . Maurizio . Eich . Georg . Steinmann . Beat . Boltshauser . Eugen . Giedion . Andres . American Journal of Medical Genetics . 78 . 2 . 150–154 . 9674906 .
  5. 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. 10.1007/BF01958431. 0340-6199. 1915502. 2686393.
  6. Superti-Furga. A.. Gugler. E.. Gitzelmann. R.. Steinmann. B.. 5 May 1988. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. The Journal of Biological Chemistry. 263. 13. 6226–6232. 10.1016/S0021-9258(18)68776-9. 0021-9258. 2834369. free.
  7. 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. 10.1055/s-2007-973699. 0174-304X. 9309708. 260240860 .
  8. Lee. B. Vitale. E. Superti-Furga. A. Steinmann. B. Ramirez. F. March 1991. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.. Journal of Biological Chemistry. en. 266. 8. 5256–5259. 10.1016/S0021-9258(19)67780-X. 1672129. free.
  9. Web site: Prof. Andrea Superti Furga, Switzerland RE-ACT Congress. 2021-08-20. www.react-congress.org.
  10. Web site: News (view all): IOB. 2021-08-31. iob.ch.
  11. 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. 10.1038/ng0196-100. 1061-4036. 8528239. 31143438.
  12. Lausch. Ekkehart. Hermanns. Pia. Farin. Henner F.. Alanay. Yasemin. Unger. Sheila. Nikkel. Sarah. Steinwender. Christoph. Scherer. Gerd. Spranger. Jürgen. Zabel. Bernhard. Kispert. Andreas. November 2008. TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. American Journal of Human Genetics. 83. 5. 649–655. 10.1016/j.ajhg.2008.10.011. 1537-6605. 2668032. 19068278.
  13. 23684011. 2013. Unger. S.. Górna. M. W.. Le Béchec. A.. Do Vale-Pereira. S.. Bedeschi. M. F.. Geiberger. S.. Grigelioniene. G.. Horemuzova. E.. Lalatta. F.. Lausch. E.. Magnani. C.. Nampoothiri. S.. Nishimura. G.. Petrella. D.. Rojas-Ringeling. F.. Utsunomiya. A.. Zabel. B.. Pradervand. S.. Harshman. K.. Campos-Xavier. B.. Bonafé. L.. Superti-Furga. G.. Stevenson. B.. Superti-Furga. A.. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. American Journal of Human Genetics. 92. 6. 990–995. 10.1016/j.ajhg.2013.04.020. 3675238.
  14. Lausch. Ekkehart. Janecke. Andreas. Bros. Matthias. Trojandt. Stefanie. Alanay. Yasemin. De Laet. Corinne. Hübner. Christian A.. Meinecke. Peter. Nishimura. Gen. Matsuo. Mari. Hirano. Yoshiko. January 2011. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nature Genetics. en. 43. 2. 132–137. 10.1038/ng.749. 21217752. 205357235. 1546-1718.
  15. 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. en. 374. 26. 2553–2562. 10.1056/NEJMoa1509342. 0028-4793. 5070790. 27355534.
  16. Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A . Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia . Sci Rep . 5 . 17154 . November 2015 . 26598328 . 4657157 . 10.1038/srep17154 . 2015NatSR...517154R .
  17. Web site: MIM 616854: Even Plus Syndrome . OMIM .
  18. van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A . NANS-mediated synthesis of sialic acid is required for brain and skeletal development . Nat Genet . 48 . 7 . 777–84 . July 2016 . 27213289 . 10.1038/ng.3578 . 24953080 .
  19. Allou. Lila. Balzano. Sara. Magg. Andreas. Quinodoz. Mathieu. Royer-Bertrand. Beryl. Schöpflin. Robert. Chan. Wing-Lee. Speck-Martins. Carlos E.. Carvalho. Daniel Rocha. Farage. Luciano. Lourenço. Charles Marques. April 2021. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature. en. 592. 7852. 93–98. 10.1038/s41586-021-03208-9. 33568816. 2021Natur.592...93A. 21.11116/0000-0008-1272-3. 231882012. 1476-4687. free.
  20. Web site: Andrea Superti-Furga. 2021-08-20. scholar.google.it.
  21. Web site: Management – CeMM. 2021-08-31. cemm.at.
  22. Web site: List of Members. 2021-08-20. Nationale Akademie der Wissenschaften Leopoldina. en.
  23. Web site: Cloëtta Prize Max Cloëtta Stiftung. 2021-08-20. en-US.
  24. Web site: seminars. 2021-08-31. www3.unisi.it.
  25. Web site: Executive Board. 2021-08-20. Executive Board. en-GB.
  26. Web site: List of Members. 2021-09-01. Nationale Akademie der Wissenschaften Leopoldina. en.
  27. Web site: Die Stiftung Pfizer Forschungspreis pfizerforschungspreis.ch. 2021-09-01. www.pfizerforschungspreis.ch. de.
  28. Web site: Board. 2021-09-01. www.stiftungmedbiol.novartis.com.

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