About Our Research
The Genetics of Development and Disease Section seeks to understand sphingolipid metabolism in health and disease. Sphingolipid metabolism has essential roles during organism development and homeostasis. When the pathway is disturbed by genetic mutations, severe human diseases result that often include catastrophic neurodegeneration. Our work is aimed at identifying how the altered sphingolipid pathway causes disease and developing treatments.
Our lab currently studies:
- How the levels of sphingolipids are controlled in cells.
- How sphingolipids cause human disease when their metabolic pathway is disrupted.
- How to treat diseases caused by defects in sphingolipid metabolism.
The goal of this research is to gain fundamental knowledge about important biological processes that will help us understand the basis of human diseases.
This research will lead to the development of new therapies for human diseases.
Human genetic diseases caused by mutations in the pathways for synthesis and degradation of sphingolipids.