U.S. Department of Health and Human Services
Research Summary/In Plain Language

Research Summary

Research Goal

The goal of my research is to understand the role of sphingolipids during development and disease in mice as well as in models in-a-dish using human induced pluripotent stem cells. This knowledge can be extrapolated to human physiology.

Current Research

My research involves the study of sphingolipids, a type of lipid that has both structural and signaling functions in the cell. In our laboratory in NIDDK, I am involved in a series of projects aimed at understanding the function of sphingosine 1-phosphate, a bioactive sphingolipid, and its receptors during development and in the process of disease using mouse models. I am also interested in understanding the pathology of Sandhoff disease, a lysosomal storage disorder characterized by the accumulation of a certain sphingolipid in the brain. We model the disease using cerebral organoids generated using induced pluripotent stem (iPS) cells derived from a Sandhoff disease patient and we study the progression of the disease. Our approach in general is a genetic approach. Technologies such as CRISPR/Cas9 allow us the editing of the genome of mice and the iPS cells to study gene function and regulation.

Applying our Research

Our research on basic areas of the biology of sphingolipids could potentially be clinically relevant in many areas of human disease, including autoimmunity and inflammatory processes, obesity, and obesity-related complications such as type 2 diabetes and atherosclerosis.​ Sandhoff disease has no available cure and studying the progression of the disease in the cerebral organoids is giving us the possibility of testing new therapies on a human model that could benefit Sandhoff patients in a future. 

Need for Further Study

Our research focus on the discovy of novel areas of the physiology regulated by sphingolipids, with the ultimate goal of developing potential therapies.