Stephen Stone Lab

Work in our lab focuses on the role of insulin resistance in human metabolic diseases. To accomplish this, we focus our efforts on patients with severe insulin resistance syndromes. Our central hypothesis is that these patients are n=1 experiments of nature. Understanding the unique genetics and molecular biology of these diseases will help inform our understanding of the basic biology of insulin signaling.

We have developed transgenic models of severe insulin resistance syndromes using CRISPR/Cas9 gene editing technology. This included transgenic mouse models useful for detailed metabolic testing. We have also generated induced pluripotent stem cells (iPSCs) from patients with severe insulin resistance syndromes. These cells have been differentiated to relevant cell types including adipocytes and β-cells. These model systems help us understand the molecular pathologies driving severe insulin resistance. They also serve as a useful model for screening and testing therapeutic options. Visit our research page for more information!

As a NORD Center of Excellence, the Stephen Stone lab is part of WashU Medicine’s commitment to progressing care of rare diseases, encourage collaboration as well as sharing of best practices and expertise.