Chemically controlling chromatin to treat Friedriech's Ataxia

NIH RePORTER · NIH · R41 · $251,236 · view on reporter.nih.gov ↗

Abstract

We recently developed a technology that combines catalytically inactive dCas9 with bifunctional chemicals that link endogenous host cellular machinery to specific genes targeted with dCas9. We have demonstrated this technology can significantly increase gene expression at multiple endogenous mammalian genes in a chemically dependent manner. Here we propose to apply this technology to the mono-allelic rare disease with no current cure, Friedreich’s Ataxia. This disease is caused by a GAA expansion in the first intron of the frataxin gene which leads to polymerase pausing and lower gene expression. This proposed project will evaluate if targeting the frataxin gene with our combination of protein and chemical activator can restore expression levels of frataxin to a point which reverses pathology of this disease in a modern model of Friedreich’s Ataxia. We will use patient derived Friedreich’s Ataxia models in specific assays that intricately measure mitochondria function and metabolic activity that is typically dysregulated in patients that is the hallmark of this human disease. This work has the potential to lead to new treatment paradigms for individuals afflicted by this aggressive disease.

Key facts

NIH application ID
10009926
Project number
1R41TR003245-01
Recipient
EPIGENOS BIOSCIENCE, INC.
Principal Investigator
Nathaniel A. Hathaway
Activity code
R41
Funding institute
NIH
Fiscal year
2020
Award amount
$251,236
Award type
1
Project period
2020-04-01 → 2022-03-31