Return to list Friedhelm Hildebrandt
Warren E. Groupe Professor of Pediatrics, Harvard Medical School
Chief of Nephrology, Boston Children’s Hospital
Boston Children's Hospital
300 Longwood Avenue
Boston, MA 02115
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 20 novel kidney disease genes and delineated the related pathogenesis. This work implicated the primary cilium and centrosomes in nephronophthisis, thereby contributing to the identification of “ciliopathies” as a new class of human disease. Gene identification also extends to nephrotic syndrome and congenital malformations of the kidney and urinary tract. His lab studies the function of newly identified disease genes in disease models of mice and zebrafish as well as 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).
- Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathies - R01 DK068306