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.

PROS conditions show a large variability in the clinical outcome and the PIK3CA gene can be mutated at different sites as well. Finding a link between both could lead to a better assessment of the disease and, potentially, to find new therapeutic targets.

According to Dr. Angulo-Urarte, “It has been found that all PROS patients present, to some extent, the vasculature compartment affected. Therefore, we will select patient endothelial-derived cells, the ones lining the internal surface of blood vessels, from vascular lesions as a model of study”. In these cells, she will look for common and specific molecular and cellular features triggered by different mutations in PIK3CA and check if there is any way to restore them.

The CLOVES Syndrome Community is part of the Chan Zuckerberg Initiative’s “Rare As One Network”, a group of 30 patient-led organizations that are driving progress in the fight against rare diseases.  Its aim is to accelerate research and find treatment options for people with CLOVES and PIK3CA-Related Conditions.