Dr. Sumner's research program focuses on advancing therapeutics for two forms of spinal muscular atrophies (SMAs), which are monogenetic motor neuron (MN) diseases that cause debilitating muscle weakness and often early mortality. The overarching approach is to integrate findings from human patients with experimentation in animal and iPSC-derived models to elucidate pathomechanistic pathways relevant to human disease and to identify promising therapeutic opportunities. For this project, she will leverage unique resources and state-of-the-art technologies to define factors limiting efficacy of current SMA therapeutics, characterize cellular and molecular mechanisms driving SMA pathology, and identify and validate novel therapeutic strategies.