Identification of Novel Pathogenic Genes in Juvenile Systemic Sclerosis

Kathryn Torok, MD
University Pittsburgh
School of Medicine

Anne Stevens, MD, PhD
University of Washington
School of Medicine

Project Summary:

Causative gene defects usually lead to onset of disease earlier in life; therefore, we hypothesize that a whole exome study of very early-onset systemic sclerosis (SSc) may lead to identification of causative genes that cannot be identified in adult-onset populations, as well as a better understanding of the molecular mechanisms of all kinds of scleroderma – localized, systemic, juvenile and adult.

In collaboration with Dr. Dan Kastner’s lab at the NHGRI, we are initiating a project to identify novel candidate genes in juvenile SSc. Whole exome sequencing will be performed with genomic DNA from 30 children with systemic sclerosis and their parents (30 triads). Patients will be recruited at our respective centers--two of the largest pediatric rheumatology centers in the world (Children’s Hospital of Pittsburgh, University of Pittsburgh and Seattle Children’s Hospital), both of which have long histories of scleroderma research and clinical care.

The study will be the first whole exome sequencing study to focus on juvenile SSc, and may lead to a new understanding of the disease and, hopefully, pediatric-specific treatment targets.

Return to Funded Projects