Genomics of ALS

We have key research themes in Amyotrophic lateral sclerosis (ALS, the most common of the motor neuron diseases, MND) and in Parkinson’s Disease.

ALS is a devastating disease for those affected and their family members. It is an adult-onset, rapidly progressive neurodegenerative disorder that leads to paralysis and death, typically within 2 to 5 years of first symptoms. To date, the most important fundamental insights into the underlying cellular mechanisms have resulted from studies of the known causal mutations. However, >85% of cases do not harbour known ALS mutations and application of new genomics methods is acknowledged as the strategy most likely to drive progress in unlocking the remaining molecular variations that cause and contribute to the disease. This is necessary if we are to address the desperate need for better diagnosis, prognosis and treatment of ALS. Our research exploits genome-wide genetic and epigenetic profiling methods to discover genes and functional pathways that contribute to ALS pathogenesis and progression. We have established the sporadic ALS Australia system genomics consortium (SALSA) to collect consistent clinical data and biological samples across clinics in Australia to underpin future research based on biological samples, including genomics. Our research is fully integrated with the ALS research in Brisbane.