Toxic RNA (in neurodegenerative diseases)

Expansions of DNA repeats are a unique hallmark of over 40 neuromuscular degenerative diseases. In the non-coding repeat expansion disorders, the repeats transcribe to long RNAs and cause RNA toxicity. Despite substantial research, there is little understanding of the RNA toxicity mechanism.

My research is focused on a new mechanism by which trinucleotide repeat expansions cause the disease phenotype and maternal bias, through the RNA interference pathway. Furthermore, our experimental data from nematode model animals offers the potential for a first-ever targeted intervention for repeat expansion disorders.