Justin Ichida, PhD in Clinical/Translational Science or equivalent

Here, we propose to develop a systematic approach for the identification of causative genetic factors in ALS and those predictive of drug response by combining a novel assay called TISON (Tracking the In vitro Survival of Neurons) with whole-genome sequencing. We hypothesize that in the absence of environmental insults, reduced survival of patient-specific motor neurons in culture is a result of genetic mutations, which can be identified by genome sequencing. We will use cellular reprogramming to generate patient-specific motor neurons, identify those cultures that exhibit rapid degeneration in vitro, sequence those patients to identify putative causal mutations, and validate these mutations using genome editing in our in vitro reprogramming system.