Grant: Doctoral Research Award: Canada Graduate Scholarships

DICER1 syndrome is a rare genetic condition linked with frequent mutations (changes) in the DICER1 gene and an increased risk for developing tumours in various organs such as the kidneys, lungs, ovaries, thyroid; by age 60, the risk of having a malignancy diagnosis is as high as 30%. Because the syndrome is so rare, it is poorly understood. To better study the initiation process of the syndrome, and in hoping to innovate new treatment approaches, our lab has successfully developed a novel transgenic mouse model that recapitulates the cell type from which the mutation arises, and the exact mutation found in patients. Excitingly, in our mouse model, we observed all three distinct kidney cancers seen in DICER1 syndrome. Subsequently, we plan to resolve the changes that occur as a result of DICER1 mutation at the single-cell levels using cutting-edge sequencing technologies. This will enable us to picture the trajectory of how these kidney cancers emerge and grow in their early stages. Our mouse model therefore offers us the unique ability to screen for treatment options and to improve clinical outcome for patients affected by what now recognized as a rare and untreatable tumour cluster.