Genomics of Calcinosis

Lorinda Chung, MD, MS

Stanford University School of Medicine

About Dr. Chung

In collaboration with
Pravit Gourh, MD
National Institute of Arthritis and Musculoskeletal and Skin Diseases

Project Overview

Calcinosis is the deposition of insoluble calcium in the skin and subcutaneous tissues. It is a manifestation of several autoimmune connective tissue diseases, most frequently occurring in systemic sclerosis (SSc) and juvenile dermatomyositis (JDM), followed by adult dermatomyositis (DM). Calcinosis causes significant morbidity to patients, yet an understanding of drivers of calcinosis remains elusive.

Drs. Chung and Gourh hypothesize that rare, protein-coding genetic variants are driving severe calcinosis in both SSc and DM patients. They have thus assembled a representative cohort of SSc and DM patients with severe calcinosis, and they are performing genomic analyses on samples from these patients in order to identify calcinosis-associated gene variants. This will lead to a better understanding of the pathogenesis of calcinosis and possibly to the identification of therapies for this difficult complication.

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