Chromatin Encoding of Repeat Expansion in Neurodegeneration
Award
Collaborative Pairs Pilot Project Awards (Cycle 1) (Phase 1), Collaborative Pairs Pilot Project Awards (Cycle 1) (Phase 2)
Focus Area
Neurodegeneration
Project Description
More than 30 inherited disorders are caused by unstable expansion of repetitive DNA sequences termed short tandem repeats, including Huntington’s disease, amyotrophic lateral sclerosis, fragile x syndrome, and Friedreich’s ataxia. This project will investigate the emerging link between the genetic sequence’s higher-order folding patterns and pathologic repeat instability in trinucleotide repeat expansion disorders.
This project was selected for the second phase of the Collaborative Pairs RFA.
Investigators
Kristen Brennand
Jennifer Phillips-Cremins
Esteban Mazzoni
Schahram Akbarian