Professor Catherine Abbott
- Centre for Genomic and Experimental Medicine
- MRC Institute of Genetics and Molecular Medicine
Contact details
- Email: C.Abbott@ed.ac.uk
Address
- Street
-
Centre for Genomic & Experimental Medicine MRC Institute of Genetics & Molecular Medicine University of Edinburgh Western General Hospital Crewe Road South
- City
- Edinburgh
- Post code
- EH4 2XU
Background
I did my first degree in Pathobiology and then my PhD in Biochemical Genetics at Reading University and MRC Harwell. I then moved to London to do a postdoc at the MRC Biochemical Genetics Unit based in the Galton Laboratory at University College London. After 3 years I was appointed as a lecturer at UCL, where I set up my own lab and ran a number of undergraduate courses in human genetics. In 1993 I moved to Edinburgh, initially at the MRC Human Genetics Unit and then from 1996 as a lecturer at the University of Edinburgh. I am heavily involved in postgraduate supervision and am the director of the IGMM Graduate School where I run a 4 year PhD program. My research, though focused on specific molecules, spans areas from cancer biology to neuroscience.
Qualifications
Academic Qualifications
-
Bachelor
- 1983, Bachelor of Science, 2:1, University of Reading
- Doctorate
- 1987, Doctor of Philosophy, PhD, MRC Mammalian Genetics Unit, Harwell
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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability
In:
Molecular Genetics and Genomic Medicine
DOI: https://doi.org/10.1002/mgg3.219
Research output: Contribution to Journal › Article (Published) -
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice
In:
Scientific Reports
DOI: https://doi.org/10.1038/srep46019
Research output: Contribution to Journal › Article (Published) -
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
In:
Human Mutation: Variation, Informatics and Disease
DOI: https://doi.org/10.1002/humu.23677
Research output: Contribution to Journal › Review article (E-pub ahead of print) -
Translation elongation factor 1A2 (eEF1A2) is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish
In:
Bioscience reports
DOI: https://doi.org/10.1042/BSR20194191
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function
In:
Human Molecular Genetics, vol. 29, pp. 1592–1606
DOI: https://doi.org/10.1093/hmg/ddaa042
Research output: Contribution to Journal › Article (Published)