Motor neuron disease (MND) Research

UNC13A gene therapy


Developing a novel therapy to correct mutations in the UNC13A gene

Professor Pietro Fratta, University College London

£164,291.33* | April 2023 - March 2026

Summary: Approximately 97% of people living with MND exhibit the toxic build-up and aggregation of a protein called TDP-43 in their motor neurons. This pathology has been shown to contribute to the death of motor neurons via several mechanisms, including the introduction of mistakes that leads to the loss of another protein, called UNC13A. The presence of the faulty UNC13A protein is associated with worse disease progression and highlights a need for therapies that correct the mistakes made by faulty TDP-43.

Professor Fratta is designing and developing novel “antisense oligonucleotides” (ASOs) - DNA-like molecules that silence faulty genetic material leaving the correct genetic material to function as normal within the cell, that could potentially be used as a new treatment for MND.

Why this research is important: ASOs are a relatively new technology, which have already shown a lot of promise in MND (tofersen is an ASO targeting the SOD1 gene mutation in people living with SOD1-MND). This research will generate the pre-clinical data needed to take this treatment forward into human trials.

To find out more about TDP-43, check out our infographic or watch this short documentary.

*This project is part of the Motor Neuron Disease Translational Research Fund and is co-funded by LifeArc and MND Association.

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