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Moss Lab Research Projects

Cellular and Molecular Mechanisms of CMT1A and HNPP

CMT1A and HNPP are the most common Charcot-Marie-Tooth disease subtypes, and they are caused by copy number variation of the same gene, Peripheral Myelin Protein 22 (PMP22). Ongoing studies are using established CMT1A and HNPP mouse models to identify cellular and molecular phenotypes in teased peripheral nerve fibers. Molecular mechanisms causing the phenotypes will be dissected using simplified cell culture models and advanced microscopy methods.

Systems Pathophysiology and Pathomechanisms of CMT1A and HNPP

CMT1A and HNPP mouse models will also be used to study the pathogenesis of these diseases in the context of the entire peripheral nervous system. This will enable us to link the identified molecular and cellular phenotypes to potential disease pathomechanisms. We will employ sophisticated behavioral, electrophysiological and histological techniques for these studies.

Translate Results to Human Patients and Facilitate the Development of Novel Therapeutics

We will partner with neuromuscular clinicians to obtain CMT patient samples in order to validate mouse model results, identify molecular hallmarks of CMT1A and HNPP and build a foundation for translational research.

Develop New Innovative Animal and Cell Models

New models are needed to push the boundaries of dysmyelinating peripheral neuropathy research, and we will seek to leverage new technologies to advance our research.

Establish Interdisciplinary Collaborations to Challenge Perspectives

We strongly believe that collaborations will open new frontiers in our research capabilities and strengthen our conclusions. Please contact us if you’re interested in collaborating!

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