Contreras-Galindo receives grant for research rare diseases treatment

Apr. 18—The Hormel Institute, University of Minnesota’s, Rafael Contreras-Galindo, PhD, has been awarded the Marta Marx Fund for the Eradication of Scleroderma Award from the National Scleroderma Foundation.

Scleroderma is a group of rare diseases with fewer than 200,000 cases per year and is a serious condition that can be fatal. Primarily scleroderma is associated with the hardening and tightening of the skin, but problems arise when blood vessels and internal organs get involved in some cases.

“Identifying the cause of scleroderma is the main goal of this study,” Contreras-Galindo said, as the cause is currently unknown. Researchers suspect the immune system is overreacting and causing inflammation and damage that triggers connective tissue cells to make too much collagen in the body, resulting in scleroderma. But much work is needed to fully understand this process and discover how to prevent and treat the disease.

Contreras-Galindo will be tackling this work by looking at the immune system response triggers, specifically why centromere dysfunction occurs. The centromere is part of a chromosome that helps a cell divide up its DNA during division. When a centromere splits incorrectly during cell division, it activates an immune signal pathway that acts as a sensor and triggers an immune response. The immune system overreacts, causing inflammation and injury to blood vessels. In the case of scleroderma cells, they continue to grow, causing scar tissue to form and/or a buildup of collagen in the skin.

“A potential treatment strategy is using therapies to weaken this immune signal pathway, specifically the cGAS-STING pathway,” Contreras-Galindo said. “This could slow down the production of scleroderma cells, leading to less scar tissue being produced.”

This two-year, $200,00 grant will support Dr. Contreras-Galindo’s research titled Centromeres, Chromosome Instability and cGAS-STING Activation in Scleroderma Fibrosis.

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