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Research Overview

Friedhelm Hildebrandt’s research focuses on the identification and functional characterization of recessive single-gene causes of kidney diseases in children. His group has identified more than 30 novel kidney disease genes.

His lab studies the function of newly identified disease genes in disease models of mice and zebrafish. He has developed efficient methods for gene identification using whole exome resequencing and other highly-parallel sequencing techniques.

Since 2000, Friedhelm Hildebrandt has performed ‘experimental’ mutation analysis in single-gene renal diseases worldwide for more than 5,000 pediatric patients.

Research Background

Friedhelm Hildebrandt received his MD from Marburg University Medical School and completed internships and residency at Marburg University Medical School and Heidelberg University, both in Germany, and Middlesex Hospital Medical School in London. 

He also completed postdoctoral research at Yale University. He is an investigator of the Howard Hughes Medical Institute (HHMI), a member of the American Association of Physicians (AAP), a member of the German Academy of Sciences (Leopoldina) and received the E. Mead Johnson Award in Pediatric Research (APS/SPR).

Selected Publications

  1. *Zhou W, *Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, and 20 other authors, Smogorzewska A and Hildebrandt F. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. (*both authors contributed equally). Nat Genet 44:910-915, 2012 (editorial p. 836-38)
  2. Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, and 40 authors and Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 150:533-48, 2012
  3. Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 123:3243-53, 2012.

Publications