About PXE International
PXE International was founded in 1995 to promote research and support individuals affected by pseudoxanthoma elasticum (PXE). We work on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals.
PXE International is the prime force in conducting basic and clinical research and providing financial support for applied translational research, product development, and treatment development for Pseudoxanthoma Elasticum (PXE). We steward the intellectual property to equitably advance products and services around the world for the individuals and families living with PXE.
To discover more about the origins of PXE International, watch Sharon Terry's TED talk, or read her articles: Learning Genetics and Life as a Numerator.
What PXE International Does
- Initiates, funds, and conducts research
- Provides support for individuals and families affected by pseudoxanthoma elasticum
- Provides resources for healthcare professionals
PXE International is a 501(c)(3) not-for-profit organization established in 1995. Our research began and continues its funding mostly through private donations. These small donations have grown into grants from foundations, companies, and the government. Our mission depends on the generosity of our supporters.
Make a tax-deductible donation at any time.
PXE History
Patrick and Sharon Terry founded PXE International in 1995 to accelerate research that would lead to treatments. They initiated, funded, and conducted research, provided support to families, and worked with physicians.
Initial Plan
Pat was a fire sprinkler designer and Sharon a former college chaplain when they learned in 1994 that their children (Elizabeth and Ian) had PXE. Despite no formal scientific background, they quickly assembled a research plan.
Figure 1 – PXE Research Plan
Principles of the Plan
- Fast-track all phases of research to avoid bottlenecks
- Position PXE International as a firewall between patients and researchers
- Centrally coordinate research to maximize speed
- Participate in national genetics initiatives to access resources
- Create systemic changes that benefit all rare diseases
Groundwork
The Terrys established PXE International as a 501(c)(3). They enlisted Dr. Lionel Bercovitch as medical director, supported by a dedicated board and staff.
Early Milestones:
- Conducted gap analysis and funded early-stage research
- Planned collaborative strategies to avoid research overlap
- Built a large patient registry (Figure 2)
- Founded the PXE International Registry and BioBank
Discovery of the Gene Associated with PXE
The PXE Blood and Tissue Bank helped discover the PXE gene. Sharon Terry co-authored two Nature Genetics articles. She is a co-inventor on the gene patent, which was licensed to GeneDx for diagnostic use.
Mutation Analysis
Using dHPLC and international lab partnerships, PXE International helped catalog over 400 mutations. This data laid the groundwork for a diagnostic kit from GeneDx.
Diagnostic Kit
Under the federal CETT program, PXE International launched the first PXE genetic test. It offers affordability, access, and guidance for families and clinicians.
Shi Y, Terry SF, Terry PF, Bercovitch LG, Gerard GF.
Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.
J Mol Diagn. 2007 Feb;9(1):105–12.
Cellular and Molecular Studies
PXE funds advanced cellular and molecular studies involving:
- Confocal microscopy and protein analysis
- Recombinant protein expression and purification
- Antibody design and functional assays
These efforts support treatment and diagnostic development.
PXE Research Meetings
PXE International hosted its 4th international research meeting in 2012. It was the first meeting fully funded by the foundation. Earlier meetings occurred in 1997, 2004, and 2010.
These meetings bring together clinicians, researchers, and lay leaders.
Clinical Trials
PXE International plans clinical trials at the NIH to test PXE-related vision loss treatments. A study by Dr. Mark Lebwohl at Mt. Sinai explored magnesium oxide as a possible treatment.
Conclusion
PXE International is a powerful advocate for individuals affected by PXE and a model for rare disease organizations. Millions have been invested in basic research, but more is needed to translate this into therapies.
We work tirelessly, day and night, to ensure no one with PXE faces blindness alone — and to build a new model of collaboration among researchers, clinicians, and families.