Periodic Reporting for period 3 - C9ND (C9orf72-mediated neurodegeneration: mechanisms and therapeutics)
Reporting period: 2018-10-01 to 2020-03-31
We will do this using a range of different model systems. We will use fruit flies as they have been very successful in identifying the causes of other neurodegenerative diseases. They also have unparalleled genetic tools for investigating both normal physiology and disease. We will also analyse neurons we have derived from people with the C9orf72 repeat mistake. This is also a powerful system as it will ensure that our findings are relevant to human patients. This combined approach has the potential to deliver fundamental new insight into the causes of frontotemporal dementia and amyotrophic lateral sclerosis.
In addition we have also identified new compounds that can bind to the C9orf72 repeats. We have shown that these compounds reduce the toxic properties of the repeats in both fruit flies and neurons derived from people with the C9orf72 repeat expansion. This provides proof of concept for further development of drugs using this approach.