Niemann-Pick type C disease: Pathogenesis and Therapy
Niemann-Pick type C is a rare, lysosomal storage disease characterized by ataxia, dementia, and premature death. The current EU-approved treatment, miglustat, slows the rate of disease progression, but other therapeutic approaches are needed to maximise clinical benefit. I am interested in examining different therapeutic compounds for the treatment of Niemann-Pick type C disease. I am also interested in a seemingly unrelated disorder, Tangier disease, which shares many cellular pathologies with NPC. In addition to treatments, I hope to better understand the function of the NPC1 protein and identifying other factors, which can be targeted therapeutically, which contribute to disease pathogenesis.
Key Points:
- Examining therapeutic compounds both in vitro and in vivo models of NPC
- Examine the convergence of NPC and Tangier disease, and the potential for shared therapeutic options
- Investigate the conserved function of NPC1 protein in yeast to help elucidate critical pathways that this protein is involved in, and identify new therapeutic targets based on this
This work was supported by Action Medical Research.
