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Graduate and Postdoctoral Research Symposium has ended
avatar for Rachel Besser

Rachel Besser

Engineering a Novel Model to Study Neuromuscular Disease
Poster Presenter #5
Ph.D. Student in Biomedical Engineering
The neuromuscular junction (NMJ) is the area of the body where the nerves meet the skeletal muscle. At the NMJ the nerves send an electrical signal to the muscle, which in turn receives the signal and then contracts. All the movement of the human body can be attributed to the NMJ. There are multiple neuromuscular diseases, affecting an estimated 1 million people in the US, that cause NMJ dysfunction such as amyotrophic lateral sclerosis (ALS), muscular dystrophy, and Charcot-Marie-Tooth (CMT) disease. These diseases can be debilitating causing major loss of motion or paralysis. CMT is a common condition affecting 1 in every 2,500 people. CMT develops due to genetic mutations in any of 70 associated genes all of which cause peripheral neuropathies. Depending on which gene is mutated, CMT falls into two categories, demyelinating (type I) or axonal (type II). While this disease is rather common, it is not well studied and many of the disease mechanisms remain unknown. There is a current need for a NMJ platform that will allow researchers to model diseases and uncover the underlying cellular mechanisms. For this purpose, we seek to design a compartmentalized cell culture system using a gelatin-laminin (Gel-LN) hydrogel for the formation of a NMJ. The NMJ platform will be comprised of patient derived cells allowing for personal medicine applications. Stem cell biology allows researchers to collect skin cells from a patient and differentiate them into stem cells, these stem cells can become any cell in the human body. In this study, we use patient derived stem cells to create motor neurons, which allows for the study of neurons carrying the CMT mutation. The NMJ platform described here will allow researchers to better understand CMT through proper modeling. Additionally, our model could aid in the development of new therapeutics and pharmaceutical treatments for CMT. Finally, the NMJ platform could be applied to multiple diseases, expanding the understanding of neuromuscular dysfunction and contributing to the development of new treatments.