Queen Square Centre for Neuromuscular Diseases
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- Registration for the 2015 UK Neuromuscular Translational Research Conference now open
- UCL rated top UK university by research strength in the REF2014
- UCL Institute of Neurology will launch a new Postgraduate Masters Programme starting September 2015
- The UK’s first dedicated inpatient centre for people with complex neuromuscular disorders has been officially opened by leading healthcare advocate Sir Robert Francis
Consultant Neurologist and Professor in Clinical Neurology
Charcot Marie Tooth Disease (CMT)
Our major research interest in peripheral neuropathies is the molecular basis of the inherited peripheral neuropathies of which CMT is the commonest.
Although we continue to identify new mutations in many of the common genes that cause CMT, in recent years we have focused on the rare forms of CMT. There are currently over 30 causative genes for CMT and 26 of these are defined as rare. As well as searching for disease causing mutations, a major focus of our research is on phenotype / genotype correlations to try to understand the pathogenesis of these rare forms of CMT. With this in mind we also run the only dedicated inherited neuropathy clinic in the UK in the centre for neuromuscular disease at NHNN from where we recruit many of our patients.
We have just obtained external funding to run the first therapeutic trial in the UK in CMT which will be commencing in November 2006. This trial is being done in collaboration with colleagues in Italy. Before starting the trial we developed a specific impairment and disability scale for CMT patients (CMTNS) together with colleagues in the US. This scale will be the primary outcome measure for the trial.
Hereditary Sensory and Autonomic Neuropathies
We have an active programme of research into the HSAN’s. These diseases are not as common as CMT but can be very disabling for patients. As well as searching for disease causing mutations in the five genes described to cause HSAN, we also study phenotype / genotype correlations to try to understand these disorders better. We have recently completed a large genotype / phenotype study of HSAN type 1 which revealed some interesting features including a more severe phenotype in males which we are currently investigating further. We have also identified a new causative gene for HSAN in a spontaneous rat model of the disease and are investigating the role in humans currently.
Professor Mary Reilly
UCL Institute of Neurology and
The National Hospital for Neurology and Neurosurgery
Phone: +44 (845) 155 5000 ext. 88317 or 020 3448317
Fax: +44 (20) 3448 3633