AddressNational Hospital for Neurology
Professor of Neurology
Department of Neuromuscular Diseases
UCL Queen Square Institute of Neurology
I have a long standing research interest since 1991 in the inherited neuropathies with an emphasis on translational research. A major part of our current programme is gene identification (recent human genes BICD2, MARS) and functional analysis of identified genes (recent work on BICD2 and IGHMPB2). My more clinically focused translational research focusses on developing new outcomes measures (e.g. CMT neuropathy score for CMT) and new disease MRI biomarkers for disease progression (e.g. MRI neuromuscular protocol for CMT1A). As part of the NIH funded Inherited Neuropathy Consortium (INC) we are doing a large (4000 patients to date) natural history study of CMT to be trial ready. I was the UK PI for the first international UK-Italian trial in CMT1A and currently am conducting a pre clinical trial outcome measure identification study in HSN1 in preparation for a clinical trial of serine in HSN1 based on work of our group and others in the pathogenesis of this condition.