The rare lysosomal storage disease Niemann Pick Type C (NPC) is caused by mutations in the Niemann Pick Type C intracellular cholesterol transporter 1 and 2 (NPC1 and NPC2). Progressive neurological disorders cause disability and premature death in all cases beyond early childhood. Due to its prevalence (1:150,000), we only possess a limited understanding of the molecular mechanism underlaying the disease. Our project aims to decipher the transcriptional and biophysical basis for NPC. We will perform a transcriptomic analysis of commercially available cells with mutations in the Niemann Pick Type C intracellular cholesterol transporter 1 and 2 (NPC1 and NPC2). We will study the transcriptomic changes induced by the only approved disease modifying drug (Miglustat) to identify cellular pathways that can reverse the biophysical phenotype derived from excessive lysosomal lipid accumulation. We will obtain the cells commercially from the Coriell Institute for Medical Research.