Dr Nell Nie

My research interests lie at the intersection of neurodegeneration, mitochondrial dysfunction, and spatial transcriptomics. I am particularly focused on understanding how mutations in C9ORF72, the most common genetic cause of ALS-FTLD, contribute to regional brain pathology. Specifically, I investigate how astroglial mitochondrial dysfunction arises due to an increased burden of mtDNA mutations, leveraging cerebral organoids and mtDNA sequencing approaches to uncover mechanisms of disease progression. My goal is to elucidate mitochondrial mutations in ALS-FTLD and identify potential therapeutic targets.