#IDIBELLseminars: C9orf72 FTD/ALS: mechanisms and therapeutic approaches

A GGGGCC repeat expansion in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). I will describe recent work using iPSC-neurons, patient tissue and novel mouse and Drosophila models to gain new mechanistic insights into disease pathogenesis and neuroprotective pathways. This will include a new role for lipid alterations in FTD/ALS and a novel gene therapy approach to combat C9orf72 repeat pathologies.

Hosted by Alberto Ortega – Neurodevelopmental disorders group 

Adrian Isaacs is Professor of Neurodegenerative Disease at the UK Dementia Research Institute and the UCL Queen Square Institute of Neurology. He has made several key contributions to understanding C9orf72 FTD/ALS pathogenesis and his laboratory is now focussed on investigating disease mechanisms and developing therapeutic approaches for FTD/ALS.