Harvard Catalyst Profiles

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.