3D Genome Misfolding due to Repeat Instability in Neurodegenerative Disease

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.