Beyond the phenotype – A targeted sequencing study to identify the spectrum of genetic mutations in pyogenic granulomas

Overview:

Pyogenic granulomas are benign growths of blood vessels which can grow quickly and bleed. It can be difficult to stop the bleeding, which can make them an urgent problem. Their primary treatment is surgical, which carries the risks of infection, scarring, and recurrence. Therefore, understanding the changes that occur in the DNA of these growths may lead to better medicines to treat them and avoid the potential side effects of surgery. In this study, we propose examining the DNA of 60 previously removed pyogenic granulomas to investigate for the presence of spontaneous mutations in 177 different genes which may have caused the formation of these benign growths. These 60 samples will be representative of diversity in age, sex, and location on the body to provide the best profile of DNA mutations to inform the future development of targeted medicines.

Status:

This project was funded by a 2020 PeDRA Research Grant.