PXE Center of Excellence & Clinical Care

The PXE International Center of Excellence in Research and Clinical Care was established in 2016 in collaboration between Jefferson Dermatology and PXE International, a lay organization advocating on behalf of patients with pseudoxanthoma elasticum (PXE), a rare heritable disorder that can cause rash-like skin findings, cardiovascular complications and loss of visual acuity leading to blindness.

The PXE International Center of Excellence in Research and Clinical Care was established in 2016 in collaboration between the Department of Dermatology and Cutaneous Biology at Thomas Jefferson University and PXE International, a lay organization advocating on behalf of patients with pseudoxanthoma elasticum (PXE). The initial funding and a large part of the subsequent funding come from PXE International. This rare heritable disorder can cause rash-like skin findings, cardiovascular complications and loss of visual acuity leading to blindness.

The Center was established with the goal of finding effective therapies for PXE and developing personalized medicine based on specific mutations of the disease. Jefferson is the ideal environment for the Center as we have the key players and core facilities necessary to make progress in PXE research. Clinicians, researchers, biochemists, pathologists, and molecular geneticists will all work together to make advances in understanding this currently intractable disease. We are proud to be home to the first Center of its kind here in the United States.  The Jefferson Center works in close collaboration with the PXE Center in the fourth Military Medical University, Xi'an, China, which was established in 2013.

Jouni Uitto MD, PhD, is the Chair of the Department of Dermatology and Cutaneous Biology at Jefferson, and the Vice President of Basic Research and Therapy Development for PXE International. With support of DNA samples collected by PXE International, he and his colleagues were the first to identify mutations in this disorder. In close collaboration with global researchers and PXE International, he developed the first transgenic animal models of PXE. Dr. Uitto and his research collaborators work closely with Sharon Terry, initial Founder and President of PXE International, with global perspective and collaboration with numerous international PXE organizations in the world. This research is currently facilitated by access to over 7,000 PXE patients and a biobank of over 10,000 genetic samples through PXE International.