Friedhelm Hildebrandt, M.D.
Title William E. Harmon Professor of Pediatrics Nephrology Institution Boston Children's Hospital Address Children's Hospital Chief, Div of Nephrology - Hunn 319 300 Longwood Ave Boston MA 02115
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Overview
Friedhelm Hildebrandt, M.D is currently a Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology of Boston Children's Hospital. Dr. Hildebrandt is also an Investigator of the Howard Hughes Medical Institute (HHMI).
Dr. Hildebrandt's research work is concerned with the identification and functional characterization of recessive single-gene causes of kidney diseases in children. His group has identified over 30 novel kidney disease genes and delineated the related pathogenesis. His lab studies the function of newly identified disease genes in disease models of mice and zebrafish as well in cell-based systems. His work was involved in the early development of efficient methods for gene identification by combining homozygosity mapping with total human exome resequencing. Recently, his lab discovered that DNA damage repair plays a role in the pathogenesis of ciliopathies (Chaki et al. Cell150:533-48, 2012; Zhou et al., Nat Genet 44:910-15; editorial p. 836-8). The research work of his lab has been supported solely by peer-reviewed research grants, mostly from the NIH, the HHMI, the Doris Duke Charitable Foundation, the March of Dimes, the Thrasher Research Foundation, and formerly the German Research Foundation. He has published over 240 original articles, many of them in high-ranking journals.
Research
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RC2DK122397
(HILDEBRANDT, FRIEDHELM ;POLLAK, MARTIN R. ;SAMPSON, MATTHEW GORDON;SANNA-CHERCHI, SIMONE)
Aug 15, 2020 - May 31, 2025
Integrating large scale genomics and functional studies to accelerate FSGS/NS discovery
Role: Co-Principal Investigator
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R01DK088767
(HILDEBRANDT, FRIEDHELM)
Jul 5, 2010 - Feb 28, 2021
New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)
Role: Principal Investigator
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RC1DK086542
(HILDEBRANDT, FRIEDHELM)
Sep 30, 2009 - Jul 31, 2012
Exon capture and large-scale sequencing for disease-cause identification, early d
Role: Principal Investigator
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R01DK076683
(HILDEBRANDT, FRIEDHELM)
Dec 1, 2006 - Jun 30, 2022
Discover and functionally characterize full-penetrance causes of nephrosis / FSGS
Role: Principal Investigator
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R01DK069274
(HILDEBRANDT, FRIEDHELM)
Mar 1, 2005 - Dec 31, 2009
Function of NPHP6 a novel gene for Senior-Loken syndrome
Role: Principal Investigator
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R01HD045345
(HILDEBRANDT, FRIEDHELM)
Jan 1, 2005 - Dec 31, 2009
Identifying new genes for branchio-oto-renal syndrome
Role: Principal Investigator
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R01DK068306
(HILDEBRANDT, FRIEDHELM)
Jun 1, 2004 - Dec 31, 2023
Novel genetics, pathobiology and therapy of nephronophthisis-related ciliopathies
Role: Principal Investigator
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R01DK064614
(HILDEBRANDT, FRIEDHELM)
Jun 1, 2004 - May 31, 2008
Functional characterization of the gene NPHP4
Role: Principal Investigator
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P50DK039255
(WIGGINS, ROGER CHARLES)
Sep 1, 1987 - Jul 31, 2009
Biology of the Glomerular Podocyte
Role: Co-Principal Investigator
Bibliographic
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