Torok, et al., Published In International Journal Of Molecular Sciences

Congratulations to Kathryn S. Torok, MD, for her recent publication in the International Journal of Molecular Sciences titled, “Single-Cell Transcriptome Analysis Identifies Subclusters with Inflammatory Fibroblast Responses in Localized Scleroderma.” Torok is an Associate Professor of Pediatrics and Clinical and Translational Science in the Division of Rheumatology and the Director of the Pediatric Scleroderma Clinic at UPMC Children’s. Other authors from the Department of Pediatrics Giffen Werner, Anwesha Sayal, Emily Mirizio, BS, and Theresa Hutchins, BS, among others from collaborative institutions. 

Localized scleroderma (LS) is an autoimmune disease that generally causes abnormal deposits of collagen in the skin and underlying tissue, often leading to disfigurement and disability. While much of its pathophysiology is based on the very similar systemic sclerosis (SSc) condition, LS itself remains critically understudied. 

In order to resolve this critical gap in knowledge, Torok and her team employed the use of single-cell RNA sequencing technology, which provides a novel way to assess information at the individual cellular-level, overcoming the inherent similarities shared by LS and SSc. Looking at 28 pediatric and adult patients (14 with LS and 14 healthy controls), the researchers focused on fibroblast populations (the primary drivers of fibrosis in SSc) and were successful in identifying 12 fibroblast subcultures in LS which presented with an inflammatory gene expression. 

From there, further genetic clusters were identified as unique to LS, demonstrating an area of further research distinguishing LS from SSc. This research also indicates the success of the use of single-cell RNA sequencing in further determining potential disease-propagating fibroblasts and associated gene signatures in LS. 

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