The focus of our research is to understand the roles of the centrosome and cilium during development, and their dysfunction in human disease. These highly conserved organelles are involved in regulation of cell-cycle progression, cell differentiation, polarity, and migration. Defects in the structure or function of centrosomes and cilia lead to a range of human disease conditions known collectively as “Ciliopathies”. These include developmental defects such as polycystic kidney disease, airway and lung disease, skeletal dysplasia, infertility, and cancer.
We use genomic, proteomic, biochemical and cell biological methods to delineate the regulation of centrosome-cilium assembly and function. We are interested in understanding the basic biology of these organelles in cells, using in vitro cell culture systems and in vivo model organisms. We are also studying the consequences of abnormal centrosome and cilium function in human disease, with particular emphasis on the development of ciliopathies affecting the kidney (polycystic kidney disease, nephronophthisis and renal cancers) and lung disease (primary cilia dyskinesia).
We also work closely with the Washington University Polycystic Kidney Disease (PKD) Clinic, which specializes in the care of patients with PKD, a common genetic disease affecting more than 12 million people worldwide. The focus of this clinic encompasses not only the kidney manifestations, but also extends to include the management of hypertensive, liver and vascular complications of the disease. More than 200 PKD patients are followed at this clinic. The clinic also provides patients with the opportunity to participate in medical trials designed to investigate novel therapies to slow or halt cyst growth and renal dysfunction. The PKD clinic is headed by Seth Goldberg, MD. Patients can be seen at either of our two locations: the Center for Advanced Medicine (CAM) at Barnes-Jewish Hospital and at Barnes-Jewish Hospital West County.
We are using cell culture and animal models of cystic kidney disease to better understand the role of centrosomes and cilia in the pathogenesis of all cystic diseases of the kidneys including autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), multicystic dysplasia and nephronophthisis. Ongoing research attempts to uncover novel genetic mutations associated with kidney cysts, discover new biomarkers of disease course, or perform clinical outcomes measures by accessing clinical and laboratory data of consented patients in a de-identified manner. Contact us if you are interested in participating.