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For patients living with pseudoxanthoma elasticum (PXE), a rare genetic disease that affects the skin, eyes and blood vessels, the diagnosis has long come with uncertainty and, for more than a century, unanswered questions.
Though recognized by medicine since the late 19th century, the biological cause of PXE remained unknown, leaving families without clarity and researchers without direction. That changed in 1999, when Dr. Olivier Le Saux helped identify the gene primarily responsible for the disorder, transforming PXE from a medical mystery into a field of active scientific inquiry and marking a pivotal moment in rare-disease research.
PXE at a Glance: A Rare Disease with Real‑World Consequences
According to Le Saux, PXE causes abnormal calcification of elastic fibers in the skin, eyes and blood vessels, affecting quality of life and increasing the risk of cardiovascular complications. Though rare – impacting an estimated 1 in 25,000 to 50,000 people worldwide with only 10,000 patients in the U.S. – it had long been understudied, with only a handful of research centers worldwide focused on the disease.
The discovery unfolded during an intense and unusual scientific race. Multiple laboratories across the Continent and the globe were closing in on the same answer.
“We were sprinting to the finish line, shoulder to shoulder” recalled Le Saux, Endowed Professor of Genetics and the Chair of the Department of Cell and Molecular Biology at the John A. Burns School of Medicine. “We were competing furiously but still working together at the same time.”
1999: The Genetic Key That Opened a Field
When Le Saux “intentionally leaked” that he had identified the most probable genes that cause PXE with the other scientists, the three teams published their findings within weeks of one another. For patients, it was the first real step toward understanding the disease.
“At the time, there was almost no shared knowledge about PXE,” recalled Sharon Terry, whose two children were diagnosed with the disease in the 1990s. In a TED talk, she discussed that her children’s diagnosis inspired her to establish PXE International, a research and patient advocacy organization in 1995. “Without a genetic explanation, families were left navigating fear and uncertainty on their own.”
Hawai‘i as a Home for PXE Research and Care
That moment shaped Le Saux’s career and his belief in sustained, collaborative science. Today, Hawaiʻi is home to one of only two PXE research centers in the United States, and Le Saux continues to advance the field through experimental therapies to help refine ongoing clinical trials in Europe and the US.
That same long-term perspective guides how he views the Stephen Nomura Endowed Professorship in the Department of Cell and Molecular Biology. The professorship reflects an investment not in individual experiments, but in the people who carry the science forward.
“This kind of support gives us flexibility,” Le Saux said. “It allows us to train graduate students in the Cell and Molecular Biology graduate program at JABSOM to become the next generation of scientists by presenting at conferences, publishing their work and engaging with the broader research community.”
Investing in People, Not Just Projects
The $500,000 endowment is already being used to directly support CMB graduate students, and also funding an international collaboration with a graduate researcher from France working on a novel gene therapy experiment for PXE. This student will briefly visit Dr. Le Saux’s laboratory to learn and perform specific techniques.
At a time when federal research funding is increasingly competitive, the endowment is invaluable. It allows faculty to sustain momentum without diverting scarce institutional resources and gives graduate students opportunities that can shape their careers.
Now, Le Saux is pursuing his next scientific mission: the characterization of previously unknown molecular events in PXE so that a more targeted cure could be developed. It is work driven by persistence, partnership and patience – the same principles that define both his science and the philanthropic support that helps ensure it continues.
For Le Saux, PXE is not a story with a finish line, but one defined by continuity: ideas carried forward, students becoming scientists and discovery unfolding over time. The Stephen Nomura Endowed Professorship sustains that momentum by investing not in a single breakthrough, but in the people who advance the work.