Cathy Abbott Research Group

Section: Genetic and Experimental Medicine

Research in a Nutshell

Our research is focused on a translation elongation factor, eEF1A2, which is specifically expressed in neurons and muscle. Other cell types express an almost identical protein, eEF1A1, encoded by a separate gene. There are two main aspects to our research.

We are trying to understand why all vertebrates have a developmental tissue-specific switch between different forms of eEF1A, and the consequences of the switch are at a cellular and whole organism level. We use CRISPR gene editing technology to perturb the switch and aim to establish whether switching eEF1A1 back on could be used therapeutically in neurodevelopmental and neurodegenerative conditions.

Heterozygous missense mutations in the gene encoding eEF1A2, EEF1A2, have been found to cause epilepsy, developmental delay, intellectual disability, and autism. The clinical spectrum is variable but individuals can be severely affected. There are over 50 different causative mutations and we are working to understand how different mutations correlate with the specific manifestations of the disorder, and whether they operate through a gain or loss of function mechanism. We have a range of precise gene edited models of these neurodevelopmental disorders that are being used to test therapeutic approaches.

More information on eEF1A2 and epilepsy (external website)

Contact

C.Abbott@ed.ac.uk

Collaborations

• David Harrich, University of Queensland
• Stephanie Schorge, UCL, Simon Waddington and Raj Karda
• Mike Cousin, University of Edinburgh
• Christos Gkogkas, University of Edinburgh
• Emily Osterweil, University of Edinburgh
• Richard Chin, University of Edinburgh

Partners and Funders

• MND Scotland
• Medical Research Scotland
• Simons Initiative for the Developing Brain