Mary Kate McCulloch, The Ohio State University, Columbus, Ohio
Development of Patient-Derived PNS Organoids to Model Diverse CMT1B Phenotypes
Mary Kate McCulloch is developing patient-derived organoids, which are miniature lab-grown models of the peripheral nervous system. She will use this approach to better understand how genetic mutations causing CMT1B affect nerve cells and test a novel gene therapy designed to address the underlying genetic mutation. Her project, under the guidance of Dr. Afrooz Rashnonejad, aims to characterize patient-derived peripheral nerve organoids (PNOs) to elucidate molecular pathomechanisms caused by mutations in the MPZ gene, and to evaluate the efficacy of knockdown and replacement gene therapy in early- and late-onset CMT1B PNOs. By advancing their understanding of CMT1B and providing a platform for testing potential treatments, the development of PNO models could aid in treatment development for many CMT subtypes.
I am truly grateful and honored to receive the Emerging Researcher Award. This opportunity allows me to expand my work developing patient-derived organoid platforms that better capture CMT disease complexity and directly inform gene therapy strategies. My goal is to keep patients at the center of my research and accelerate progress toward effective treatments.
