Translation factors in neurodevelopmental disorders Section: Genomic and Experimental Medicine Research in a NutshellOur 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. Professor Cathy Abbott - Professor of Mammalian Molecular Genetics More information on eEF1A2 and epilepsy (external website) Image Researchers from the Abbott Research Group at work in the lab PeopleProfessor Cathy Abbott Group LeaderGrant Marshall Research FellowHeather LovePhD StudentTamsin BaxterPhD studentNika Balkic PhD studentJamey BrewsterPhD studentContactC.Abbott@ed.ac.uk Cathy Abbott - Research Information Collaborations Alfredo Gonzalez Sulser, University of EdinburghStuart Cobb, University of EdinburghPeter Oliver, NATAPaul Donlin Asp, University of EdinburghSue Fletcher Watson, University of EdinburghMike Cousin, University of EdinburghRichard Chin, University of Edinburgh Partners and FundersAction Medical ResearchMedical Research ScotlandSimons Initiative for the Developing BrainEpilepsy Research Institute UKScientific ThemesNeuroscience, neurodevelopment, molecular geneticsTechnology ExpertiseCRISPR/Cas9 genome editing, animal models, epilepsy modelling This article was published on 2024-09-23