Current Research Interests
My current research is focused on the identification, association and functional analysis of SNPs in human genetic disorders. I have a particular interest in the role of alternative splicing in health and disease, as well as gene regulation at the level of both transcription and translation.
Current research areas include the following:
- Genetic studies of pre-eclampsia in Central Asian and European populations (InterPregGen)
- In silico identification of RNA editing in the brain
- Missense and synonymous mutations causing exon skipping in Haemophilia A and fibrinogen disorders
- Effects of synonymous mutations on mRNA secondary structure and protein translation
I was responsible for setting up a minigene technique in our laboratory to enable us to look at mutations affecting splicing, which triggered my interest in missense and synonymous variants associated with splicing. This led to a collaboration with the NHS Molecular Diagnostics unit to look at mutations identified during routine diagnostics.