Cathy Abbott

Professor Cathy Abbott is a faculty member at the Institute of Genetics and Cancer at the University of Edinburgh, where she serves as Group Leader of the Cathy Abbott Research Group. Her research focuses on translation factors in neurodevelopmental disorders, particularly studying the translation elongation factor eEF1A2.

Her research program investigates why vertebrates have a developmental tissue-specific switch between different forms of eEF1A, and the consequences at cellular and organism levels. She also studies how heterozygous missense mutations in the EEF1A2 gene cause epilepsy, developmental delay, intellectual disability, and autism. Her work utilizes CRISPR gene editing technology to perturb the eEF1A switch and establish potential therapeutic approaches.

Professor Abbott maintains a dedicated website resource for scientists, clinicians, and families affected by EEF1A2 mutations, and actively engages with the patient community through a Facebook support group. Her research has identified over 50 different causative mutations in EEF1A2 and is working to understand how different mutations correlate with specific disorder manifestations.

Her laboratory includes Research Fellow Grant Marshall and several PhD students. She collaborates with numerous researchers across the University of Edinburgh and receives funding from Action Medical Research, Medical Research Scotland, the Simons Initiative for the Developing Brain, and Epilepsy Research Institute UK.