Research Interests
I am interested in developing in vitro methodologies to investigate the effects of rare genetic variants on phenotypic diversity in inherited disorders. Specifically, I am working on developing a high-throughput assay to evaluate the effects of thousands of missense variants simultaneously in GAA, associated with Pompe disease.
External Relationships
- Sanofi Genzyme
- Soft Bones, Inc
- University of North Carolina Greensboro
This faculty member (or a member of their immediate family) has reported outside activities with the companies, institutions, or organizations listed above. This information is available to institutional leadership and, when appropriate, management plans are in place to address potential conflicts of interest.