Presentation Year

2018

Depreciated Participant

Stephanie ValenciaBiological SciencesUndergraduate Student,Austin KraffBiological SciencesUndergraduate Student,Haley NissonBiological SciencesUndergraduate Student,John W. Steele IVBiological SciencesFaculty

College or Department

Short Description of your Research or Creative Project (700 characters or less)

Niemann Pick Disease Type C1 (NPC1) is a rare lysosomal storage disorder that affects 1:150,000 people. The disease is characterized by cholesterol accumulation within lysosomes, as well as clinical cognitive decline and neurodegeneration. These symptoms can be attributed to a mutation in the NPC1 gene that leads to the interruption of the intracellular cholesterol transport. Using CRISPR Cas9 technology, the ability to make a cellular model with inducible CRISPR gene regulation can give researchers considerable insight into the cellular pathology of Niemann Pick Disease Type C1 as well as the ability to apply targeted drug therapy and potentially lead to drug discovery.

Permission to Publish Work

Yes

Node ID

538

Page Classification