Anthony J. Burand Jr, PhD
- Cheryl L. Stucky, PhD
- Cell Biology, Neurobiology & Anatomy
BS: Chemistry, Bethel University, 2013
BA: Physics, Bethel University, 2013
Full description: Fabry disease is a lysosomal storage disorder that can significantly affect patients' quality of life. In Fabry disease, patients have a mutation in the lysosomal protein α-galactosidase A which leads to improper degradation of globotriaosylceramide (Gb3) and accumulation of Gb3 and lyso-Gb3. This accumulation of glycosphingolipids in patient tissues leads to the onset of a host of symptoms including pain, lack of sweat production, tinnitus, cardiovascular problems, strokes, and kidney failure. Patients can be treated with enzyme replacement therapy, but even with the current standard of care, many patients still experience pain. I am currently investigating the mechanisms by which pain develops in Fabry disease and how small molecule, enzyme, and gene therapies affect pain outcomes. I am also looking into behavioral measures of ongoing pain and cellular mechanisms of spontaneous activity in neurons. In addition, have prior experience in developing in vitro models of human disease and will be developing an in vitro model of neurons in Fabry disease.