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

Funding:

This work is supported by Action Medical Research