Conference : “C9orf72 FTD/ALS: molecular mechanisms”

Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The GGGGCC repeats generate repeat RNA aggregates and are translated into dipeptide repeat proteins (DPRs). We are investigating both repeat RNA and DPR toxicity using a range of models (Drosophila, IPSC and patient brain). We are also developing potentially therapeutic small molecules that specifically bind the secondary structure of the repeat RNA.