2019 SMA Researcher Meeting Summary: Special Session on Spinal and Neuromuscular Circuitry: Exploring Defects in SMA and Potential Therapeutic Targets

The annual SMA Researcher Meeting is the largest research meeting in the world specifically focused on SMA. This year, we had a record setting 735 attendees join together in Anaheim, CA. The goal of the meeting is to create open communication of early, unpublished data, accelerating the pace of research. The meeting also furthers research by building collaborations—including cross-disciplinary dialogue, partnerships, integration of new researchers and drug companies, and educational opportunities for junior researchers.

Throughout the next couple of weeks, we will be posting a series of summaries from our 2019 Researcher Meeting, highlighting the most interesting new discoveries presented. This update covers the opening special session entitled, “Spinal and Neuromuscular Circuitry: Exploring Defects in SMA and Potential Therapeutic Targets”.

Understanding how the intricate circuitry connecting nerves and muscles functions and what defects in that circuitry are present in SMA is critical for better understanding the pathology of SMA. Furthermore, identifying defects in the circuitry may identify potential targets for future therapeutics. The goal of this session was to better understand this circuitry in the context of SMA and discuss how this knowledge may shape and impact further therapeutic development.

The session was moderated by Samuel Pfaff PhD, Professor, Gene Expression Laboratory, Howard Hughes Medical Institute Investigator, Benjamin H. Lewis Chair.

Summary of Special Session Talks

This session focused on research that reveals deficits in motor neuron synaptic connections in SMA. A better understanding of the role of SMN in motor circuits affected by SMA is important because it could lead to additional therapies that improve motor function, particularly in chronic patients. To begin the session, Dr. Pfaff provided an overview of motor circuitry and described work from his lab on the genetics of neuromuscular synapse formation. Next, Dr. George Mentis presented his lab’s data revealing that the synaptic inputs from sensory neurons to motor neurons are affected in SMA, due to the loss of SMN in motor neurons. Dr. Chien-Ping Ko expanded on the observation that inputs onto motor neurons and the connections that motor neurons make with muscles are early defects that arise in SMA, suggesting SMN plays a critical role in synapse formation. Next Dr. Jianli Sun described preliminary work that suggests several regions of the nervous system involved in motor control may be affected by SMA. Lastly, Dr. Christian Simon showed that increasing neuronal activity with a small molecule offsets sensory-motor defects in SMA, providing evidence that appropriate modulation of neurophysiology with drugs could be complementary to other therapies for SMA patients. To conclude the session a panel discussion was held with each of the speakers giving the audience a chance to engage in the discussion, ask questions, and offer feedback.

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