Dr. Sumner’s research focuses on understanding the molecular mechanisms that cause the devastating motor neuron disease spinal muscular atrophy, the leading inherited cause of infant mortality. Dr. Sumner’s laboratory has demonstrated that impaired synaptic connectivity precedes motor neuron death in SMA providing a window of opportunity for effective treatment. In addition, in more recent studies, the Sumner lab also discovered novel long noncoding RNAs that regulate the survival motor neuron (SMN) gene (which is deficient in SMA) and identified ways to block these RNAs as a method to activate SMN expression. These lncRNA represent completely novel therapeutic targets in SMA patients and their therapeutic potential in animal models and human cells is currently being explored. This research has been supported by funding from SMART (Spinal Muscular Atrophy Research Team), a nonprofit organization that aims to raise awareness and funds for research aimed at finding a cure for SMA and related diseases. To date, the SMART funding has resulted in publication of one study in the Journal of Neuroscience "Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy” and further publications enabled by SMART support are forthcoming soon.