Available: 07/10/17, Expires: 12/31/20
Friedhelm Hildebrandt, M.D. is the Warren E. Grupe Professor of Pediatrics at Harvard Medical School, the Chief of the Division of Nephrology of Boston Children's Hospital, and an alumnus investigator of the Howard Hughes Medical Institute (HHMI). His research work is concerned with the identification and functional characterization of recessive single-gene causes of chronic kidney disease (CKD) in children and young adults, including nephrotic syndrome, cystic renal ciliopathies, congenital anomalies of the kidney, and nephrolithiasis. His group has identified over 80 novel monogenic causative genes for CKD of the 220 genes known to date, and delineated the related pathogeneses.
Dr. Hildebrandt’s lab studies the function of newly identified disease genes in animal models of mice, zebrafish, C. elegans, and Drosophila, 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 whole exome resequencing. It contributed to discovery of renal cystic ciliopathies as a new disease entity and delineated a role of DNA damage repair signaling in the pathogenesis of ciliopathies (Chaki et al. Cell 150:533-48, 2012; Zhou et al. Nat Genet 44:910-15; editorial p. 836-8). His group identified 35 of the 50 monogenic genes known to cause steroid-resistant nephrotic syndrome, if mutated, and has delineated new pathomechanisms of nephrotic syndrome (Braun et al. Nat Genet 48:457, 2016). Dr. Hildebrandt collaborates with >35 (pediatric) nephrologists worldwide, having recruited over 8,000 patient families. His lab has recently shown that in over 20% of cases with early-onset chronic kidney disease (<25 yrs) a causative single-gene mutation may be identified using whole exome sequencing.
The research work of his lab has been supported mostly by peer-reviewed research grants, from the NIH, the HHMI, the Doris Duke Charitable Foundation, the March of Dimes, the NephCure Foundation, the Thrasher Research Foundation, and the German Research Foundation. He has published over 280 original articles in high-ranking journals. Dr. Hildebrandt received the Homer W. Smith Award by the American Society of Nephrology (ASN), the Lillian Jean Kaplan Award for PKD Research by the ISN, the Mead Johnson Award by the Pediatric Academic Societies, and the Franz Volhard Award. He is a member of the National Academy of Medicine (NAS/IOM), the American Association of Physicians (AAP), and the German National Academy of Sciences.
Friedhelm Hildebrandt, MD
William E. Harmon Professor of Pediatrics
Harvard Medical School
Chief, Division of Nephrology
Boston Children's Hospital
300 Longwood Avenue
Boston, Massachusetts 02115