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).