NIH R01 · 2025
Microgial contribution and therapeutic potential in Friedreich's ataxia
Project Summary Friedreich’s ataxia (FRDA) is a multi-systemic autosomal recessive disorder that is predominantly caused by a homozygous GAA repeat expansion mutation within the first intron of the frataxin (FXN) gene leading to a decrease of protein expression. Frataxin is a mitochondrial protein involved in iron metabolism. FRDA is characterized by ataxia, neurodegeneration, muscle weakness, and cardiomyopathy. There is no treatment for this lethal disease. We tested a new therapy for this disease consisting of wildtype (WT) hematopoietic stem and progenitor cell (HSPC) transplantation in the Y8GR mouse model of FRDA. This therapy worked beyond our expectation in FRDA completely…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.