Research Summary

We are interested in the genetic causes of phenotypic variation in disease. In humans, even the simplest, single gene genetic disorders are subject to differences in onset, progression, and long-term prognosis. A great deal of this “phenotypic heterogeneity,” or variability, is due to differences in genetic background between patients. If we can better understand these “modifiers” and their role in disease, we can more effectively identify high risk patients and design individualized treatment plans based on their genetic background. We may even be able to develop new therapeutics that target these modifiers.

In my lab, we use the fruit fly Drosophila melanogaster as model system in which to identify and characterize modifiers of cellular stress, apoptosis, and metabolic dysfunction. These processes themselves modify a great many diverse human diseases ranging from neurodegeneration to diabetes to developmental disorders. We take advantage of the many genetic tools available in the Drosophila community, including the Drosophila Genetic Reference Panel (or DGRP), in our research. By crossing our models of human disease or disease pathways into this collection of ~200 fully sequenced inbred fly strains, we can identify candidate modifier genes to validate not only in the original model, but in other relevant contexts.