Exploring the pathogenesis of juvenile systemic sclerosis
Cedars-Sinai Medical Center
Overview:
The underlying mechanisms driving systemic sclerosis (SSc) remain poorly understood, and no curative treatment currently exists. While SSc predominantly affects women between the ages of 40 and 50, it can also impact children. Our research focuses on rare and severe forms of juvenile SSc, where a genetic cause is likely. We believe that uncovering the mechanisms behind these cases can not only improve disease management in affected children but also provide insights into adult SSc.
In this study, we analyzed three patients with extremely severe juvenile SSc. Genetic investigations revealed a mutation in a gene encoding a molecule whose structure and function are largely unknown. We hypothesize that this molecule plays a critical role in the pathogenesis of this specific and severe juvenile SSc subtype. This project aims to conduct foundational experiments to confirm the involvement of this molecule in disease mechanisms. Ultimately, we aspire to understand how targeting this molecule could help prevent or reverse the disease. The knowledge generated from this research could not only benefit children suffering from severe juvenile SSc but also contribute to the identification of novel therapeutic targets for adult SSc.
Status:
This was funded through a 2025 Rheum for Kids: Pediatric Skin and Joint Grant run in partnership with the Arthritis National Research Foundation (ANRF) and PeDRA.