My laboratory works on the genetics
of neurodegeneration, peripheral nerve disease, ataxias, and paroxysmal
movement disorders. I also have an interest in neurorehabilitation. The
combination of genetic, functional cell biology and neuropathological methods
is a particularly powerful approach for understanding neurological diseases and
their pathological processes.
Given the rapid advances in genetic technology
and knowledge, the analysis of RNA, protein expression and protein interactions
in human tissue will become central to neurological research. It is likely that
the next 10 years will see the development of treatments for human diseases
based on these advances. Therefore, the collection of clinically characterised
neuropathological material is pivotal to future research.
My research group are carrying out a programme of genetic and pathological investigations into human neurodegeneration. We have recently identified two ataxia genes and we are working on a number of disease genes in ataxia, peripheral neuropathy, parkinson's disease and dementia. These genetic and neuropathological studies integrating functional in vitro research will translate this research into disease modifying treatment for human diseases.
Role in the Synaptopathies Initiative
I am the deputy lead PI of the Synaptopathies Initiative and aim to understand mono- and polygenic inheritance with a focus on paroxysmal dyskinesias, episodic ataxias and overlap syndromes with epilepsy and migraine.