Scleroderma is a rare autoimmune disease which, on the surface, causes hard, thickened areas of skin; but what makes it the most deadly of all fibrotic diseases is the severe damage it does below. As a result of the immune system attacking the connective tissue under the skin and around internal organs, scleroderma can also fatally damage vital organs such as the heart, lungs, and kidneys. Given this, a significant part of the challenge in treating the disease is that it’s difficult to know which patients have the progressive disease until after extensive complications and tissue damage have already occurred—but the work of Dr. Lisa Willis, Assistant Professor, Faculty of Science – Biological Sciences at the University of Alberta and GlycoNet Investigator, aims to address this challenge and greatly change the lives of scleroderma patients worldwide.

Dr. Willis’ team, in collaboration with University of Alberta Clinician Scientist Dr. Mohammed Osman, discovered that the skin of people with scleroderma makes a glycan that is not normally found in healthy individuals. Every cell in the human body is covered with a layer of glycans (aka carbohydrates or sugars) that are crucial for human health. The cells of the immune system rely on these sugars to identify healthy cells as well as those that have stopped functioning properly (like those involved in autoimmune disease). Based on this discovery, and with GlycoNet’s support, Dr. Willis is now leading the development a simple but life-changing test to identify individuals with scleroderma who are at high risk of disease progression.

Dr. Willis commented, “We have shown that the glycans made by these skin cells can also be found in the bloodstream, where we can then measure them using a simple blood test. Identification of patients at high risk of progressing would provide a better window for treatment with novel therapies that could prevent tissue damage, thereby decreasing mortality and increasing quality of life,” she says.

This prognostic assay is simple, inexpensive, and makes use of existing technology already available in clinical labs—and may also generate more wide-ranging interest in the clinical community for its potential ability to be adapted to other applications such as the diagnosis of metastatic cancer.

But the impact of this work goes beyond just the skin in other critical ways. It must be noted that women develop most types of scleroderma more often than men (researchers suspect that hormonal differences between women and men might play a part in the disease). And for women in particular, it is currently not possible to predict who will progress to the most severe form, so one of the key areas that Dr. Willis’ lab is exploring is how these sugars differ in males and females—and thus how they uniquely affect the health of each. Such exploration is offering new insights into personalized medicine and eventually, potential new avenues to develop more effective therapeutics for the disease.

“An area of incredible scientific potential and social impact, glycomics is really poised to be the next frontier of global innovation and the next driver of Canada’s bioeconomy,” said Dr. Elizabeth Nanak, GlycoNet Chief Executive Officer. “Thanks to researchers like Drs. Willis and Osman along with those at the 36 institutions that GlycoNet brings together across the country, we are building a real competitive advantage for Canada in glycomics.”

Dr. Willis concluded, “Without the support of GlycoNet, this work would really not have happened. As a relatively new researcher, GlycoNet has given me a unique opportunity to advance and expand my research in a very meaningful way.”