Project Grant R01NS146580

The National Institute of Neurological Disorders and Stroke awarded $616,577 to the Research Institute At Nationwide Children's Hospital on August 14, 2026, under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853) to elucidate cellular and molecular disease mechanisms in Charcot-Marie-Tooth type 1B disease and develop gene therapy approaches.

The recipient will pursue two aims. In Aim 1, the institute will determine how myelin protein zero (MPZ) gene variants drive disease phenotypes ranging from demyelination to axonal neuropathy using patient-derived peripheral nerve organoids derived from the institute's cohort of patient fibroblasts carrying various MPZ mutations. The work employs single-cell RNA sequencing, multi-electrode array analysis, high-resolution imaging, and CRISPR gene correction to investigate disease mechanisms. In Aim 2, the recipient will develop and evaluate a novel gene therapy approach for CMT1B disease, testing its efficacy in MPZ R98C transgenic mice and patient-derived organoids to generate preclinical data supporting clinical translation.

Performance occurs in Columbus, Ohio, with work extending through June 30, 2031. This is a project grant, the standard NIH research mechanism.