Genetic Analysis of Scleroderma Patients

We seek to discover disease-associated rare and common variants in SSc; and associate variant burden with specific disease endophenotypes such as pulmonary hypertension, lung disease, kidney disease, calcinosis and others. To identify rare and very rare disease associated variants, whole exome sequencing will be applied. These will be complemented with a whole genome genotyping array (GSA-chip) to further analyze noncoding variants.