My research emphasis is on a rare subtype of amyotrophic lateral sclerosis (ALS) called ALS4, caused by inherited mutations in the DNA/RNA helicase senataxin (SETX). Using an iPSC-derived human motor neuron model, I study RNA dysregulation and nucleolar dynamics in ALS4. My findings have discovered a new area of SETX biology, identifying SETX’s role in modifying disease phenotypes in the most common form of familial ALS caused by an expansion of a noncoding GGGGCC (G4C2) repeat in the first intron of the chromosome 9 open reading frame 72 (C9orf72) gene.
Apart from my ALS4 work, at Dr. Eric Arnold’s direction, I also work on the exosome complex and alternative polyadenylation projects–which are at the forefront of contemporary ALS research.