Harnessing Natural Variation to Understand Rare Disease
This research stream will focus on looking at the effects of genetic variation on rare disease. Rare diseases are often understudied due to low numbers of patients and lack of funding. Due to genetic variation, rare disease patients can often present differently in the clinic making it difficult to diagnose and treat them. The stream will use Drosophila melanogaster to study the effects of genetic variation on a rare disease model. This will help identify unknown genes involved in the pathophysiology of rare diseases to better understand why the patients show specific symptoms. This research could also identify novel therapeutic targets to help treat patients with rare disease. Students who work in this stream will develop skills working with Drosophila melanogaster as a model organism, learn how to run a genetic screen, and run statistical analyses to identify the impact of a specific gene on a disease phenotype.