Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Cathy Abbott Research Group

Translation factors in neurodevelopmental disorders and neurodgeneration

Section: Medical Genetics 

Cathy Abbott
Professor Cathy Abbott - Professor of Mammalian Molecular Genetics

Research in a Nutshell

All cells need to make new proteins in order to survive. We work on a molecule that is needed for this process, called eEF1A. It occurs in two different forms (called eEF1A1 and eEF1A2) in vertebrates. All normal adult cell types contain just one version of eEF1A, either eEF1A1 or eEF1A2. The second form is found in muscle and nerve cells, but all other cell types contain the first form. When eEF1A2 is absent the nerve cells in the spinal cord that tell your muscles when and how to move die. We are trying to work out why muscle and nerve cells switch off eEF1A1, even though it is found everywhere else, and replace it with eEF1A2, which is almost identical. We think it may be because long lasting, stable cell types have subtly different needs. It is important to understand both how the switch between forms occurs, and also why, because eEF1A is involved in a whole range of diseases, from cancer and viral infection to motor neuron degeneration. More recently, subtle changes in eEF1A2 have been found to cause severe epilepsy, intellectual disability and autism, and we are investigating this using different approaches.

More information on eEF1A2 and epliepsy

Research in a Nutshell

Cathy Abott research group

People

Professor Cathy Abbott  Group Leader
Faith Davies Postdoctoral research associate
Grant Marshall  PhD student
Francis Nunez Visiting worker
Cavan Bennett-Ness PhD student
Josie Macdonald Visiting worker
Danni Gadd PhD rotation student

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

Scientific Themes

Neuroscience, neurodevelopment, neurodegeneration, molecular genetics

Technology Expertise

CRISPR/Cas9 genome editing, animal models