The Heat-Shock Response (HSR) as a potential therapy for Niemann-Pick type C

My work focuses on a small-molecule regulator of the HSR (arimoclomol), and one of the key effectors of the HSR, Heat-Shock Protein 70 (HSP70). The aim of the project is to further understand the mechanisms behind the benefits seen with HSP70 and arimoclomol in vitro and in vivo models of NPC.

Key Points:

• Understanding the effects of HSP70 and arimoclomol on myelination in the NPC model in vivo, using molecular biological and biochemical techniques.
• Examining the effects of HSP70 and the HSR on lipid trafficking and degradation in vitro, using fluorescently tagged lipids, lipid-specific toxins and biochemical analysis of lipids
• Identifying and characterising novel disease phenotypes in NPC using immunofluorescent microscopy and molecular biology technique

Funding:

Since completing my DPhil in 2015 funded by Orphazyme, I have been jointly funded by the Wellcome Trust and Orphazyme ApS, as part of the Wellcome Trust’s Pathfinder program.