Leveraging proteostasis to improve Niemann-Pick C gene therapy

MDBRNPC
Written By Million Dollar Bike Ride

Awardee: Mark Schultz

Institution: Regents of the University of Michigan

Grant Amount: $50,010

Funding Period: February 1, 2022 - January 31, 2023

Summary:

Niemann-Pick C is a genetically inherited disease caused by an abnormal accumulation of cholesterol. This cholesterol build-up commonly occurs due to a defect in a gene called NPC1. In Niemann-Pick C mouse models, adding back a fully functional NPC1 gene via gene therapy improves but does not fully correct the disease. Here we will leverage the information we have gained on protein folding to significantly increase the efficacy of Niemann-Pick C gene therapy.

Million Dollar Bike Ride
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CXCL13 as a novel biomarker and therapeutic target in idiopathic multicentric Castleman disease
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Natural History of the Hyperinsulinism Hyperammonemia Syndrome – A Multi-center Observational Study Incorporating Patient-centered Data through the HI Global Registry