I am a postdoctoral research associate based at the Institute of Genetic Medicine in the laboratory of Professor Rita Horvath. I did my undergraduate degree in Biomedical Sciences at Newcastle University and went on to do a PhD at the Institute of Genetic Medicine. I did my first postdoctoral position at the University of Oxford in the laboratory of Professor Dame Kay Davies before moving back to Newcastle University. I am currently utilising my expertise in using zebrafish as disease models to further our understanding of how abnormal RNA metabolism can cause disease. Mutations in proteins essential for RNA metabolism can cause cerebellar hypoplasia and motor neuropathy. By understanding the basic mechanisms of this disease in an in vivo model we hope to develop potential treatments.
Modelling diseases of abnormal RNA metabolism in zebrafish
Principal Investigators: Professor Rita Horvath
The exosome is a multi-protein complex which is essential for correct RNA processing in the cell. Recessive mutations in components of the exosome EXOSC3 and EXOSC8, EXOSC9 and the exosomal related protein RBM7, result in abnormal RNA metabolism causing spinal muscular atrophy (SMA), demyelination of the central nervous system and pontocerebellar hypoplasia. I am using antisense morpholino oligonucleotide knockdown and CRISPR/Cas9 to knockdown these genes and recreate these diseases in zebrafish. By using zebrafish as a model we will gain a better understanding of the mechanisms behind these diseases and identify potential targets for therapies.
Contact: [email protected]