STRENGTHENING the global effort to CURE neuromuscular disease
Tyler Nelson, PhD, Receives ANF Development Grant for Research on Chronic Pain
Tyler Nelson, PhD, was selected to receive an ANF Development Grant to support his research project, “Analysis of a Novel Primary Periodic Paralysis SCN4A Mutation With Pain as a Major Phenotype.” With his expertise in neurobiology and personal experience as a patient, Dr. Nelson brings a unique perspective to this field of research.
Dr. Nelson completed doctoral training in neurobiology at the University of Pittsburgh School of Medicine and is currently in postdoctoral training at the New York University Pain Research Center, working under the guidance of Dr. Rajesh Khanna, a renowned expert in the study of ion channels and pain research. Together, they aim to advance the understanding of the biological mechanisms underlying pain in NM conditions and identify new therapeutic options. Although transitioning into the realm of NM disease-induced pain is new to him, Dr. Nelson has a deep personal investment in the project. He shared, “In addition to my expertise as a neurobiologist, I am also a patient suffering from a rare skeletal muscle channelopathy caused by a point mutation in the muscular sodium SCN4A gene, which leads to hyperkalemic periodic paralysis.”
Dr. Nelson’s journey in neuroscience and pain research began without knowing he had a condition or an official diagnosis. “As a child, my symptoms were relatively mild, mainly consisting of muscle tightness and an awkward gait, which were largely disregarded. However, during my first year of graduate school, I started experiencing episodes of transient paralysis and excruciating pain that persisted for days afterward,” he said. “Over several years, I underwent numerous medical tests and examinations. Eventually, I had a fall that required emergency surgery and 6 months of post-surgical occupational therapy. Following this incident, an EMG definitively diagnosed me with a myotonic muscle disorder resulting from a muscle channelopathy. Subsequent genetic testing confirmed an SCN4A mutation in myself and several immediate family members.”
Reflecting on his personal experience, Dr. Nelson expressed frustration at the limited knowledge and treatment options for skeletal muscle channelopathies. He stressed the importance of raising awareness about myalgia as a common symptom resulting from these genetic mutations. “Surprisingly, to the best of my knowledge, no preclinical trials have explored pain mechanisms specifically related to skeletal muscle channelopathies. This knowledge gap presents a compelling opportunity for me to provide a meaningful contribution to the field.”
Dr. Nelson plans to generate a mouse model with the same skeletal muscle channelopathy found in himself and his immediate family, which will serve as the basis for most of his research. He will also conduct electrophysiologicalrecordings from cells transfected with normal and pathogenic sodium muscle channels, seeking to understand the functional defects associated with the mutation. Once the pathophysiology is understood, Dr. Nelson will explore pharmacological therapeutic options for treating the mutant channel. “By unraveling the intricate interplay between skeletal muscle ion-channel genes, myalgia, and pain, my research holds the potential to catalyze a paradigm shift in the approach of healthcare professionals to these conditions,” he said.
Looking beyond this project, Dr. Nelson aspires to establish and lead a neuroscience laboratory at a top-tier research-intensive institution. He sees this research endeavor as a crucial step towards gathering preliminary data and laying the foundation for his future career dedicated to studying pain resulting from NM diseases.Dr. Nelson expressed his gratitude to ANF for their generous support, stating, “The ANF’s support for this research project and my early career training means a great deal to me, and I extend my heartfelt thanks for believing in the value of this endeavor. I eagerly look forward to the opportunity to connect and collaborate with esteemed scientists and colleagues in this field.”