Our research approaches include all levels of work, from double-blind clinical trials to identifying biomarkers to mechanistic studies in animal and cellular models of the disease Friedreich ataxia (FA), a progressive neurogenetic condition found in approximately one in 50,000 people worldwide. While relatively rare, it is the most common form of inherited ataxia, a condition characterized by progressive lack of coordinated movement and loss of balance. FA also involves degeneration of heart muscle and nerve cells. Our lab participates in research and clinical trials that have elucidated the metabolic dysfunction underlying FA. This work has created a database of well-documented patients and a pipeline of more than 20 drug candidates ready to be mined for new therapies. The team is working with pharmaceutical industry partners to develop drug candidates as well as biomarkers for FA.
- Role of peroxisome proliferator-activated receptor gamma coactivator-1 alpha in FA
- Effect of mitochondrial biogenesis
- Neuropathology of FA
- Identification of biomarkers for FA
- Neuroscientific basis of neurodegeneration in FA