Dr Ana Angulo-Urarte receives a research grant from the CLOVES syndrome community to study genetic determinants of PROS
Her project will focus on the physiological and molecular aspects of PIK3CA-related overgrowth spectrum (PROS) to study the impact that different PIK3CA mutation may have in the type, severity and progression of CLOVES and PIK3CA Related Conditions, and identify potential therapeutic targets.
The 2021 research grant program of the CLOVES syndrome community has been awarded to Dr. Ana Angulo-Urarte, a postdoctoral researcher in the Endothelial Pathobiology and Microenvironment Group led by Dr. Mariona Graupera at the Josep Carreras Leukaemia Research Institute.
The project, entitled "Identifying the molecular impact of PIK3CA variants in PROS towards stratification of patients and personalized medicine", will be funded with $25,000 and will increase our understanding of the onset and progression of PIK3CA-Related Conditions.
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in the PIK3CA gene. In PROS conditions, overgrowths are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue, depending on the specific disease.