Identification of modifiers of the axonal transport pathway in health and disease

Neurodegenerative diseases, such as motor neuron disease (MND), pose a significant health burden and are currently incurable. We have only an incomplete knowledge of how they develop and affect the nervous system. Crucially, we do not currently know which processes are key for disease onset and progression. Our findings indicate that the pathway ensuring long-range transfer of information and nutrients between the neuronal periphery and its cell body, which is called axonal transport, is impaired at the onset of diseases. Given our limited knowledge of the mechanisms controlling axonal transport, our goals in this project are: 1. Widening our understanding on how this process is regulated at the molecular level; 2. Finding whether these regulatory mechanisms are impaired in MND; and 3. Identifying novel substances able to rescue transport in diseased neurons. We will pursue these goals by using mice bearing MND mutations and human neurons derived from patients.