DNA Microarray and Traditional Scleroderma Biomarkers: Does Microarray Provide Additional Prognostic Information?

Monique Hinchcliff, MD, MS
Northwestern University
Feinberg School of Medicine

Project Summary:

Dr. Hinchcliff: My lab uses gene expression measurement in skin and the esophagus, the two tissues most commonly affected by systemic sclerosis (SSc), to understand the different subtypes of disease, and to discover the cause(s) of the disease and how best to treat the disease. The ‘one size fits all’ treatment approach will likely not benefit patients. Understanding the different molecular subsets of scleroderma and the distinct underlying molecular pathways offers the best hope for successful treatment.

Research Update:

This year we published our skin biopsy gene expression results that identified a 415-gene signature that is specific for SSc and identified a scleroderma skin severity score (4S) that is predictive of skin disease progression. This is the first predictive skin disease biomarker to be discovered, and validation studies are underway to confirm our exciting results. We discovered that the epidermal growth factor pathway may be an important treatment target in SSc. In the coming year, we will conduct studies in animal models of scleroderma to test the efficacy of treatments that specifically target the epidermal growth factor pathway.

How This Work Will Impact Patients:

There are several FDA-approved drugs that target the epidermal growth factor pathway that are currently being used to treat cancer patients and potentially could be repurposed for the treatment of patients with SSc. We hypothesize that these drugs will be safe for use in patients with SSc and that they will be effective in treating the skin and internal organ complications of scleroderma.

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