Distinct genetic profiles can discern different groups of patients with scleroderma, a vexing autoimmune disease in which the body turns against itself, Dartmouth Medical School researchers report. Their discovery of distinguishing molecular subtypes within the disease offers new insight into the complexity of a poorly understood and hard to treat illness and opens a window for better diagnosis and targeted therapies.
Scleroderma is a chronic connective tissue disorder that can cause skin hardening and internal organ dysfunction and affects four times as many women as men. It captures a range of related conditions, from mild, localized to the skin, to systemic and life threatening.
Patient complications are variable and hard to predict, explains Dr. Michael Whitfield, assistant professor of genetics at DMS, who headed the research team. "We show that we can divide the patients even more finely than what is currently done clinically, and found a clear association between disease severity and gene expression. "
"We show for the first time that we can classify patients with a systemic autoimmune disease into different groups by gene expression patterns alone," says Whitfield "Now that we have discovered new subsets at the molecular level, we can begin to map the genetic pathways to see if we can we use these signatures to predict who will progress to different clinical endpoints." The researchers hope to begin to understand which patients should be treated aggressively, for example, and which drugs benefit which patients.