Award: Rheum for Kids: Pediatric Joint and Skin Disease Research Grant
Biography: Laura obtained her MD in Dermatology in 2016 from the University of Paris Cité, France, followed by her PhD in 2020 from the University of Paris, Saclay, France. She joined the Bottini lab in Aug. 2024 and her project focuses on the molecular mechanisms of specific forms of juvenile systemic sclerosis. Laura enjoys doing sports, especially running and loves the TV series Friends. One of her favorite quotes is by François Jacob: ‘There is no true discovery without a touch of madness’ (La Statue Intérieure).
Research Summary: 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.
