Professor Chung’s team recently identified mutations in a specific gene (CCNF) as the cause of amyotrophic lateral sclerosis (ALS) in a large Australian family.
A number of different mutations in the CCNF gene were identified by their international collaborators, and more recently by other international research groups. CCNF encodes a component of the protein that is a central regulator of protein degradation within cells. Because abnormal accumulation and aggregation of a protein, called TDP-43, inside motor neurons is the key pathological hallmark of the disease, it is possible that defective CCNF might contribute to a common convergent mechanism that leads to the abnormal protein aggregation that causes ALS. To explore this further, Professor Chung’s team have successfully undertaken further experiments and screening. The data generated from these experiments and screenings has provided compelling evidence. NFMRI funding was used towards a study that will provide strong pre-clinical evidence of efficacy for a proposed gene therapy. This is essential data for advancing this innovation through commercial development. This discovery is currently protected through a PCT that is due for conversion to National Phase in 2019, and potential commercial investors (pharma etc) that they have approached have indicated that positive indications in a pre-clinical mouse study are required before they can consider the innovation for investment.
