Professor of Medicine
Harvard Medical School and Boston Children's Hospital
Friedhelm Hildebrandt, MD is an Investigator of the Howard Hughes Medical Institute and the William E. Harmon Professor of Pediatrics at Harvard Medical School. He is the chief of nephrology at Boston Children’s Hospital. Dr. Hildebrandt’s work is concerned with the identification and functional characterization of full-penetrance single-gene causes of kidney diseases in children. His group has identified over 50 novel kidney disease genes. The 3 major fileds of study include congenital anomalies of the kidney and urinary tract (CAKUT), nephrotic syndrome, and retinal-renal ciliopathies. This work implicated the primary cilium and centrosomes in nephronophthisis, thereby contributing to the identification of “ciliopathies” as a new class of human disease. His lab studies the function of newly identified disease genes in disease models of mice and zebrafish. We developed efficient methods for gene identification using whole exome resequencing and other highly-parallel sequencing techniques, showing that DNA damage repair plays a role in the pathogenesis of ciliopathies (Chaki et al. Cell 150:355-48, 2012; Zhou et al., Nat Genet 44:910-15, 2012).
PUBLICATIONS
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Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31. PMID: 25557784 [PubMed – in process]
Slaats GG, Ghosh AK, Falke LL, Le Corre S, Shaltiel IA, van de Hoek G, Klasson TD, Stokman MF, Logister I, Verhaar MC, Goldschmeding R, Nguyen TQ, Drummond IA, Hildebrandt F, Giles RH. Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. PLoS Genet. 2014 Oct 23;10(10):e1004594. doi: 10.1371/journal.pgen.1004594. eCollection 2014 Oct. PMID: 25340510 [PubMed – in process]
Insolera R, Shao W, Airik R, Hildebrandt F, Shi SH. SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex. Neuron. 2014 Aug 20;83(4):805-22. doi: 10.1016/j.neuron.2014.06.029. Epub 2014 Jul 31. PMID: 25088364
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. PMID: 24882706
Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F. Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. J Am Soc Nephrol. 2014 Nov;25(11):2573-83. doi: 10.1681/ASN.2013050565. Epub 2014 Apr 10. PMID: 24722439