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, human diseases result that often include neurodegeneration. Our work is aimed at identifying how the altered sphingolipid pathway causes disease and developing treatments to correct the genetic defects.
Our lab currently studies:
- How sphingolipids cause human disease when their metabolic pathway is disrupted.
- How to correct to genetic defects in diseases of 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.
Inborn Errors of Sphingolipid Metabolism
Disorders resulting from mutational defects in the lysosomal sphingolipid degradation pathway