Our skeleton shapes our body, safeguards internal organs and facilitates blood formation. My research focuses on better understanding skeletal development and how it is impacted by signaling from a protein known as PDGFR, or platelet-derived growth factor receptor. Using research models, primary cell culture and bioinformatics, we aim to unravel the ways abnormal PDGFR signaling contributes to dysregulated skeletal growth and bone marrow maintenance.

Recent sequencing has revealed PDGFR beta mutations associated with a disease called Kosaki Overgrowth Syndrome. We can observe similar skeletal overgrowth in models by introducing a PDGFR mutation. Using single-cell RNA sequencing and stem cell culture, we have identified a potential means to reduce these symptoms.

The skeletal system also serves as a dynamic niche for intricate cell-cell interactions involving diverse cell populations including immune cells and cells that form and break down blood and bone tissue. Intriguingly, the mutation we study also affects bone marrow production. I am investigating how PDGFR signaling in skeletal cells changes the microenvironment to regulate the bone marrow niche.

This research sheds light on the complex interactions between PDGFR signaling and the skeletal microenvironment, providing insights into potential therapeutic interventions for conditions associated with abnormal skeletal growth and bone marrow function.