The focus of the Research Laboratory is to identify and characterize the molecular bases and disease mechanisms responsible for heritable disorders of bone, blood vessels, and skin. The major genetic disorders studied in the lab include all forms of osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS); Loeys-Dietz syndrome, familial aneurysm syndromes and other similar disorders.
The Research Lab is housed alongside the Collagen Diagnostic Laboratory, a certified clinical laboratory that provides testing and consultation for patients and their families with suspected connective tissue disorders and the associated clinicians. The findings from the Research Laboratory are used in the diagnostic laboratory to develop new tests for recently identified disorders and so to improve patient care. The willingness of families to be involved in research studies in known disorders and to contribute the diagnostic samples for research into the basis of still unknown conditions form strong links between the lab and the families and reinforces the critical importance of this relationship in medical research.
Department of Pathology
Room D519 Health Sciences Building
1959 N. E. Pacific St.
University of Washington
Seattle, WA 98195-7470