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Massimo Attanasio, MD
Contact Information
UT Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas 75390
Biography
Identification of genes that are responsible for human diseases is a powerful tool for the progress of medical research. Using genetic techniques it is possible to identify mutations that alter the function of a protein and result in human pathologies. Such discoveries bring invaluable insights in the molecular defects and the mechanisms underlying the diseases and might open the way to future diagnostic methods and therapies.
The research in my laboratory aims to identify genes that when mutated result in the development of kidney diseases by studying families in which the disease is genetically transmitted, with a particular focus on autosomal recessive forms of polycystic kidney disease and familiar forms of renal stones disease, hypercalciuria and nephrocalcinosis.
Using gene mapping techniques I recently identified a gene that when mutated causes nephronophthisis, a rare autosomal recessive pathology that affects children and young adults, is characterized by the development of cysts in the kidneys and results in progressive deterioration of the renal function and renal insufficiency.
In my laboratory we also apply molecular and cellular biology techniques to define the function of the protein products of the mutated genes and their role in the pathologic process, with the final intent of clarifying the mechanisms that from the genetic mutation lead to the development of the disease.
Education
| Medical School | University of Naples, Medicine (1990) |
Research Interests
Publications
Attanasio M, Uhlenhaut NH, Sousa VH, O’toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nurnberg G, Becker C, Chudley AE, Nurnberg P, Hildebrandt F, Treier M. , Nat Genet. , 2007; (39):1018-1024
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O’toole JF et al. , Nat Genet. , 2006; (38):1397-405
15. Sayer JA, Otto EA, O’toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. , Nat Genet. , 2006; (38:674-81)
Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. , Hum Mol Genet. , 2010; (15;19:1985-97)
Zhou W, Dai J, Attanasio M, Hildebrandt F. , Am J Physiol Renal Physiol. , 2010; (299:F55-62)
O’Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Karppa M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, et. al , J Clin Invest. , 2010; (120:791-802)
Attanasio M. , Pediatr Nephrol. , June 2010; ([Epub ahead of print].)
Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Utsch B, Wolf MT, Becker C, Nurnberg G, Nurnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. , J Med Genet. , June 2009; (46):663-670
Honors/Awards
(2010)