Integrative Human Biology Analytics for ALS Target Identification

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting motor neurons of the cortex and spinal cord with rapidly progressive trajectory and devastating outcomes for patients.  Existing treatments have poorly understood mechanisms of action and modest effects on either disease or function and novel therapies are highly desired.  Rare familial variants are associated only with a small fraction of patients (<10%) which has impeded our understanding of the greater sporadic disease population.  Recently multiple large cohort studies have robustly replicated common loci associated with disease risk.  We generated a combined analysis of ALS risk genetics and human genomics in an ALS Human Target Validation Platform, which when strengthened by data from multiple translational model systems, have advanced new early drug development programs.

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