Richard L. Proia, Ph.D.
- Deputy Chief: Genetics & Biochemistry Branch
- Section Chief: Genetics of Development and Disease Section, Genetics & Biochemistry Branch
- Director: Mouse CRISPR/Cas9 Genome Editing Facility, Cores & Support Services
Professional Experience
- NRSA Postdoctoral Fellow, NIDDK, 1981-1983, Advisor: Dr. Elizabeth F. Neufeld
- Ph.D., University of Texas Southwestern Medical Center, 1980
- B.S., Bates College, 1976
Research Goal
Our primary aim is to understand the normal and pathological roles of sphingolipids and to develop effective therapies for diseases related to sphingolipid metabolism.
Current Research
Sphingolipids, named after the enigmatic Sphinx of Greek mythology due to their mysterious properties, play a crucial role in cellular biology. They are essential components of cell membranes and also act as signaling molecules that regulate key functions within the vascular, nervous, and immune systems.
Sphingolipid metabolism is implicated in several human diseases, most notably in a group of inherited lysosomal storage disorders. These disorders, characterized by impaired degradation of sphingolipids, often lead to rare neurodegenerative conditions. Notable examples include Tay-Sachs disease, Sandhoff disease, Gaucher disease, Fabry disease, Krabbe disease, Farber disease, and GM1 gangliosidosis. Moreover, gene defects affecting sphingolipid metabolism have been linked to more common neurodegenerative disorders, such as Parkinson's disease.
In our lab, we explore the functions of sphingolipids in both normal and diseased states through genetic approaches in mice and in patient cells. Our ultimate goal is to develop therapeutic strategies for sphingolipid metabolism disorders.
Applying our Research
Understanding the biological functions of sphingolipid metabolism is crucial, as its significance in human disease is increasingly recognized. Gaining deeper insights into sphingolipid metabolism holds promise for the development of innovative treatments for various human diseases.
Need for Further Study
- Elucidating how altered sphingolipid metabolism leads to disease.
- Developing effective treatments for patients with sphingolipid metabolism disorders.
Select Publications
- Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease.
- Zhu H, Lee YT, Byrnes C, Angina J, Springer DA, Tuymetova G, Kono M, Tifft CJ, Proia RL.
- Neurobiol Dis (2024 Dec 6) 204:106760. Abstract/Full Text
- Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model.
- Duffy HB, Byrnes C, Zhu H, Tuymetova G, Lee YT, Platt FM, Proia RL.
- JCI Insight (2024 Nov 8) 9. Abstract/Full Text
Research in Plain Language
Our lab focuses on studying sphingolipids, a type of lipid molecule that plays a critical role in forming cell membranes and transmitting signals within cells. Disruptions in sphingolipid levels can lead to neurodegenerative diseases. Disorders related to sphingolipid metabolism include Tay-Sachs disease, Sandhoff disease, Gaucher disease, Fabry disease, Krabbe disease, Farber disease, and GM1 gangliosidosis. Additionally, defects in sphingolipid metabolism have been linked to Parkinson's disease, a more common neurodegenerative disorder. Our ultimate goal is to develop effective treatments for diseases caused by sphingolipid metabolism disruptions.