Fundamental and Translational Research on Ciliopathies:
The focus of our research program is to define the role of the cytoskeleton in regulating cell physiology, tissue formation, and organ development in humans. Specifically, we aim to understand the biology of microtubule-based organelles called centrosomes and cilia, their roles during normal mammalian organ development in health, and their dysfunction in human disease. Mutations/variants that disrupt the functions of these organelles lead to a wide range of genetic and acquired diseases collectively termed “ciliopathies”. These are multi-organ pathologies that affect the brain, kidneys, lungs, eyes, and reproductive systems, among others.
We use molecular, biochemical and cell biological methods to delineate the regulation of centrosome-cilium assembly and function. We study these processes across scales from organellar, cellular, tissue, organ, and ultimately the entire organism. We do this using a combination of new transgenic mouse models, state-of-the-art kidney and lung organoid culture models, stem cells and primary patient-derived cells, and advanced Superresoulution microscopy imaging techniques.
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.
