I am interested in combining patient genomic data with Drosophila genetics to understand fundamental biological processes.
The etiology of rare diseases is often unknown. Although sequencing data from these patients yield candidate genes, we often lack functional validation. Drosophila and its powerful genetic tools can efficiently validate the disease-causing genetic variants and allow us to pursue the underlying mechanisms of disease.
My project involves taking novel candidate disease causing genes from patients and determining pathogenic variants in Drosophila. Furthermore, because many of these candidates lack functional annotation, I hope to dissect their roles in basic biological mechanisms.