Susan A. Slaugenhaupt, PhD
My research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Our work is focused on gene discovery and therapeutic development, specifically targeting RNA splicing. My work in the Mass General Research Institute is focused on supporting investigators and promoting research at the hospital. In 2013, I was named the Elizabeth Riley and Dan E. Smith, Jr. MGH Research Scholar.
Questions being addressed in the lab
- Can we develop a therapy that targets mRNA splicing as a therapy for familial Dysautonomia? Can these new small molecule splice modulators be used for a wide-range of diseases caused by aberrant mRNA splicing?
- Can we use gene therapy to target retinal degeneration and neuroinflammation in mucolipidosis type IV (in collaboration with the laboratory of Yulia Grishchuk)?
- What genes underlie the common cardiac disorder mitral valve prolapse, and what do they tell us about valve development?
Highlighted Publications from the lab
Mutations in DCHS1 cause mitral valve prolapse