Understanding the Underlying Mechanisms of PURA-Related Epilepsy
Purine-rich element-binding protein alpha (PURA) syndrome is a rare genetic condition with only 750 individuals known to be affected worldwide. It is caused by changes in the PURA gene, which encodes a transcription factor essential for brain development. Children and adults with PURA syndrome suffer severe developmental disabilities, speech impairment and movement difficulties, as well as seizures that do not respond to standard medications.
Our group has engineered the first mouse model of PURA syndrome based on a human genetic variant, which recapitulates many of the clinical features of PURA syndrome, including severe seizures. This gives us an unprecedented opportunity to determine the underlying pathological mechanisms causing disease. The goal of this project is to identify the key molecular and cellular drivers of seizures in the hope of identifying new precision medicine strategies. The PURA syndrome mouse also provides a pre-clinical model on which to test current standard of care and emerging epilepsy treatments.
Aim
- Characterise the full behaviour of the novel mouse model of PURA syndrome.
- Determine the cellular basis of PURA-related epilepsy using electrophysiological techniques.
- Test novel therapeutic strategies on our mouse model.
