Amyotrophic Lateral Sclerosis (ALS – also known as Motor Neurone or Lou Gehrig’s Disease) is a complex, progressive neurodegenerative disease usually diagnosed between age 40-70. It is characterized by a peripheral neuropathy that migrates centrally, but disease causes, symptoms and progression vary greatly. There is no cure for the disease and there are only two approved therapies, which have limited efficacy.
In our initial ALS studies, we found 33 novel genes strongly associated with ALS risk. Having run the most drugable targets in patient derived cellular assays, three of the first five tool compounds we tested showed significant potential to improve motor neurone survival.
In a new analysis we have further stratified ALS patients using combinations of genetic features, and correlated these findings with the patients’ additional clinical and phenotypic data. We identified three distinct patient clusters in each cohort, each associated with different clinical presentation and disease severity.