Shawna Pyott

Department: Pathology
Year Entered: 2006
Prior Degrees: BS, University of Washington, 1996

I joined the molecular medicine program because I am interested in the process that bridges the gap between clinical care and basic research. Having worked in both the clinical and research environments after my undergraduate studies, I gained an appreciation for the excitement of being involved in the search for answers about a specific disease and the satisfaction of being involved in patient care. It was clear; however, that there was an informational gap between basic scientific research and how it applied to the clinic. These experiences brought me back to graduate school with a clearer picture as to how I wanted to continue my career.

I am working with the Byers lab to try and understand the molecular pathogenesis of osteogenesis imperfecta (OI), commonly known as “brittle bone disease”, and to refine the recurrence risk for families with multiple affected children. OI is a clinically and genetically heterogeneous disorder with both dominant and recessive modes of inheritance characterized by decreased bone mass, increased bone fragility, and a broad spectrum of severity that ranges from death in the neonatal period to a subtle increase in fracture frequency. OI most often results from dominant mutations in COL1A1 and COL1A2, the two genes that encode the chains of type I collagen, the most abundant protein in bone. Recently, mutations in CRTAP and LEPRE1, encoding for the CRTAP and P3H1 proteins, respectively, were shown to result in recessively inherited and severe forms of OI. Understanding how mutations in the type I collagen genes and genes encoding for enzymatic modifying proteins result in similar clinical outcomes of OI is the big focus of my project. If we can determine the common mechanistic pathway that leads to disease, then therapeutic strategies can be designed which would allow patients with severe forms of OI to have a better quality of life.

My current career interests include involvement in both clinical care and basic research. Because the molecular medicine program is designed to help us expand our thinking and apply clinical applications to our research, I am confident this program will be a great asset in helping me become a better scientist and to achieve my goals.