Postdoctoral Research Assistant
I am currently focussed on elucidating novel genetic causes of neurological diseases using next generation sequencing. While previously having worked on Motor Neuron Disease, my primary focus at Oxford is childhood forms of Ataxia. This heterogenous group of disorders are often accompanied by additional symptoms including learning difficulties, dystonia and epilepsy. By determining novel genetic causes underpinning disease, we hope to also shed light on mechanistic pathways to disease through biological assay and modelling.
Furthermore, I am interested in the functional role of SPTBN2 mutations in the pathogenicity of Ataxia. Recently, recessive mutations were determined in SPTBN2 in causing a childhood onset of Cerebellar Ataxia by this group (Lise et al., 2012). Further functional work continues on these patient mutations in collaboration with Mandy Jackson's group at the University of Edinburgh.
Through this work, I hope to shed more light on the mechanistic pathways in childhood forms of Ataxia to eventually help direct future therapeutic targets.