Richard Leonard Proia, Ph.D.

Senior Investigator

Genetics & Biochemistry Branch

NIDDK

Research Topics

To understand how sphingolipids function normally and during diseases, and to develop therapies for the the diseases of sphingolipid metabolism.

Current Research

Sphingolipids, the topic of our research, were named after the Sphinx of Greek mythology because of their mysterious properties. It is now well-known that a major function for sphingolipids is to serve as building blocks for cell membranes. Sphingolipids also function directly as signaling molecules regulating basic functions in the vascular, nervous, and immune systems.

Sphingolipid metabolism is involved in human disease. This is most clearly seen in a family of inherited lysosomal storage disorders where blocks in the degradation of sphingolipids cause rare, and in most cases, neurodegenerative disease. These lysosomal storage disorders include Tay-Sachs disease, Sandhoff disease, Gaucher disease, Fabry disease, Krabbe disease, Farber disease and GM1 gangliosidosis. Gene defects affecting sphingolipid metabolism have also been linked to the more common neurodegenerative disorder, Parkinson's disease.

In our lab, we discover the functions of sphingolipids in normal biology and in disease using genetic approaches in mice and in patient cells. Ultimately, we aim to devise therapies for the diseases of sphingolipid metabolism.

Applying our Research

Sphingolipid metabolism has important biological functions, and its role in human disease is beginning to be appreciated. A deeper understanding of the sphingolipid metabolism holds potential for the development of novel therapies for human disease.