Rachel Giles, PhD
Nephrology and Hypertension
My inspiration grows from understanding how a gene works.
Dr. Giles graduated in Immunology/Medicine from UC Berkeley/UC San Francisco in California, and completed her PhD at the University of Leiden in the Netherlands, with Prof. Dr. Martijn Breuning and Prof. Dr. Gert-Jan van Ommen. She performed a quick post-doc at Harvard before going to join Hans Clevers’ lab in Utrecht as a post-doc.
In 2003 she joined Emile Voest’s lab in Medical Oncology at the University Medical Center Utrecht, where she has been promoted from Assistant Professor to Associate Professor of Internal Medicine. In 2009, she was appointed as guest professor at Genentech in California, and she and her lab moved there for one year of research. In 2010, Dr. Giles joined the Nephrology Staff in Internal Medicine, where she has been since.
Dr. Rachel Giles’ lab focusses on inherited cystic renal diseases, including nephronophthisis and familial renal cell carcinoma syndromes. We specialize in functional testing of variant disease-associated alleles, using in vitro, ex vivo (renal explant or organoid), and in vivo (zebrafish) models. In addition to her research, Dr. Giles chairs national (Dutch VHL Organization) and international (www.ikcc.nl) kidney patient groups, and serves on the EAU Clinical Guideline Panel for Renal Cell Carcinoma.
My lab has focused on understanding how the cilium regulates renal epithelial regulation for the last 10 years; studying ciliary regulation of the cell cycle and cell signaling using in vitro renal cell culture and proteomics, ex vivo whole kidney culture, and in vivo zebrafish models of renal cell carcinoma and renal ciliopathies we had acquired of kidney cells to more common kidney diseases.
Recently, we have invested in an integrated systems biology approach to understand the cilium in proliferative states such as kidney cancer, tissue regeneration and nephronophthisis/polycystic kidney diseases. A number of recent exciting findings from our lab partly published in high impact journals has pointed to the role of the DNA damage response being activated at replication forks in renal cells before the cilium becomes dysfunctional and cyst growth begins. We are strong in modeling inherited renal disease in 3D cellular models, iPSC cells from patients, and zebrafish.
Pubmed search: Giles RH
- Nielsen SM, Rhodes L, Blanco IG, Chung WK, Eng C, Maher ER, Richard S, Giles RH. Von Hippel-Lindau Disease: Genetic Counseling in a Multiple Neoplasia Syndrome. J Clinical Oncology Jun 20;34(18):2172-81.
- Slaats G, Saldivar J, Bacal J, Zeman M, Kile A, Hynes A, Srivastava S, Den Ouden K, Zagers M, Foletto V, Verhaar M, Miles C, Sayer J, Cimprich K, Giles RH. DNA replication stress underlies CEP290-associated Joubert syndrome renal phenotypes. Journal of Clinical Investigation 2015 Sep;125(9):3657-66.
- Giles RH, Maskens D, the International Kidney Cancer Coalition. The Amsterdam Charter for Global Kidney Cancer Care. European Urology (2015), Feb;67(2):354-5.
- Giles RH, Ajzenberg H, Jackson PK. Three-dimensional spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders. Nature Protocols (2014), Dec;9(12):2725-31.
- Slaats GG, Ghosh AK, Falke LL, Le Corre S, Shaltiel IA, Van de Hoek G, Klasson TD, Stokman MF, Logister I, Verhaar MC, Goldschmeding R, Nguyen T, Drummond I, Hildebrandt F, Giles RH. Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. PLoS Genetics (2014) Oct 23;10(10):e1004594
Dr. Rachel H. Giles
Regenerative Medicine Center, UMC Utrecht
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