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Potential impact

Our work will contribute to a better understanding of nervous system function and dysfunction in disease. Furthermore, our work on patho-mechanism of neuropathy directly feeds into industrial development and new therapies and contributes to improved diagnosis and management of diseases of the nervous system.

Primary neurological diseases of peripheral nerves cause significant disability. In addition, the developmental and pathogenic processes in the PNS are of direct relevance for our understanding of CNS processes. Due to the simpler cell structure and accessibility of the PNS, many of the molecular mechanisms governing CNS development and pathology have been first elucidated in the PNS. NGIDD encompasses aspects of both normal development and pathology to find relevant pathogenetic mechanisms accessible to therapeutic intervention. On the one hand, several of the developmental mechanisms that we will elucidate are arrested or impaired in genetic diseases. Examples are lack of axonal sorting and Na+ channel clustering in laminin deficiencies, myelin protein overexpression in CMT1A, and myelin outfolding in CMT4B and HNPP. On the other hand, most mechanisms used during development to form functional myelinated fibers are recapitulated during repair after common multifactorial or acquired neurological diseases, such as multiple sclerosis, diabetes, spinal cord and nerve injury and inflammatory neuropathies. Finally, it is becoming clear that many dominant diseases in the nervous system act through toxic mechanisms, such as protein misfolding and dysregulation of quality control. Our studies of these processes in peripheral neuropathies will likely identify pathogenetic mechanisms and therapeutic targets relevant to other common diseases of the nervous system, such as neurodegenerative diseases.