Professor Catherine Abbott
eEF1A2 gene mutation in epilepsy, autism and intellectual disability; motor neuron vulnerability; genome editing and model systems for studying neurodevelopmental disorders and neurodegeneration
Prof Catherine Abbott is a Professor of Mammalian Molecular Genetics at the University of Edinburgh and is part of the Institute’s Scientific Advisory Committee. Prof Abbott’s research is focused on a translation elongation factor, eEF1A2 which is expressed in neurons and muscle. Mutations in the EEF1A2 gene cause early onset epilepsy, and her research aims to understand how the mutations affect the function of nerve cells, and how this results in seizures. Her lab is working to find effective treatment strategies for the disorder, and also to find more efficient ways to monitor seizure activity in epilepsy models.
