Identifying minor intron splicing defects in MND and understanding their therapeutic potential

“This research is innovative with the potential to discover targets that could be used to generate new therapeutics.” – scientific peer reviewer

Mutations in several genes have been shown to cause MND. It is likely that whatever goes wrong, all gene mutations lead to the nerve death that is seen in the disease. Several previous studies have discovered defects in a process called minor intron splicing that alters how some genes function. These problems are seen with several MND genes and in spinal muscular atrophy, which means this process is likely to be very important in disease development.

We are funding an innovative study, based at King’s College London and headed up by Dr Marc Ruepp. The team will identify which specific defects in minor intron splicing are shared between several MND gene mutations to find new common targets for drug development across all MND types. To do this, they will firstly expose human cells to various MND-causing gene mutations in the lab. They will then grow these into nerve cells and look for changes in the minor intron splicing process. This work is likely to generate new drug targets that will be of value to many cases of MND.

This project will cost £223,386 over three years.

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