Queen Square Centre for Neuromuscular Diseases
- Our Services
- Our Research
- Free Access Centre Publications
- MRC Review Documents
- UK Translational Research Conference
- Studentships, Fellowships & Training
- Seminars, Conferences, Courses & Workshops
- About Us
Please click the relevant icon, to visit our Facebook group or Twitter account:
- Genomics England whole genome sequencing
Genomics England is a project set up by the Department of Health, due to start in January 2014. This is an important opportunity for patients with neuromuscular disorders to have their genome sequenced in order to maximise their chance of a genetic diagnosis. Please click on the link above for further information.
- New sister centre partnership with the University of Iowa Department of Neurology
- Update in Neuromuscular Disorders - registration now open
17th-20th March 2014, Queen Square, London
- Expression of interest to join McArdle Expert Patient Group
- Centre Director Professor Michael Hanna takes part in today's BBC 'World Have Your Say' discussing Department of Health press release
- Innovative genetic treatment to prevent mitochondrial disease
- The Centre for Neuromuscular Diseases team successfully completed their 5th bupa 10k in a row on 27th May 2013
- Launch of the John Morgan Hughes Fellowship
- Business case to develop Neuromuscular Complex Care Centre approved by UCLH Trust Executive Board
The research of my team focuses on clinical and
experimental aspects of peripheral nerve disease and mechanisms of pain.
Our goal is to translate the knowledge obtained from investigations of
animals and experiments in normal human volunteers to clinical practice
in patients with neuromuscular disorders.
One line of research concentrates on the development of novel diagnostic tools and better ways how to assess the natural history and response to therapy of these diseases. Another area of work focuses on the neurobiological basis of somatosensation and pain, a very common symptom of many neuromuscular disorders, with the view that a better understanding will lead to more effective therapies.
Magnetic resonance imaging (MRI) has only recently been introduced to the study of neuromuscular disease. This technique allows the direct visualization of diseased nerves and secondary neurogenic changes in affected muscles. These novel techniques complement the standard neurophysiological investigations. In collaboration with Tarek Yousry we will use the power of MRI to study the mechanisms of nerve regeneration and use it as an objective parameter to assess the response to different therapies.
Nerve excitability testing greatly enhances our ability to diagnose the ion channel properties in normal and diseased nerve. In collaboration with Hugh Bostock we have shown that nerves in animals and humans have similar properties. This technique therefore provides an ideal translational investigational tool to assess the acute and chronic effects of drugs on peripheral nerve excitability.
Nerve fibres transmitting temperature, itch and pain, the so called small fibres, are frequently affected in peripheral nerve disease. Increases in the excitability of these nerve fibres is frequently a cause of pain. However, current routine neurophysiological investigations only assess large fibres involved in touch and motor control. Small fibres outnumber the large fibres by a factor of 6 and thus there is a considerable diagnostic gap. Using contact heat evoked potentials and laser Doppler imaging of the flare response we want to develop novel objective test for small fibre neuropathies.
Hereditary neuropathies in which there is a selective increase or decrease in sensitivity can help to discover the key molecules of somatosensory function. Together with Mary Reilly, Henry Houlden and Stephanie Schorge we will study the functional consequences of mutations of the sodium channel Nav1.7 which appears to play a key role in the pain pathway.
We study the development and functional properties of sensory neurons using cultured sensory neurons in combination with calcium imaging or patch clamp recording and in situ using extracellular recordings of single afferents in a skin nerve in vitro preparation. Together with Lizzy Fisher we are studying the functional changes in genetically altered mice with mutations in molecules that are involved in axonal transport.
Contact and Links
Department of Clinical Neurophysiology
The National Hospital for Neurology and Neurosurgery
London WC1N 3BG
Phone: +44-20-7829 8752
Fax: +44-20-7905 2702
PA: Jazz Dinza
Phone: +44-20-7905 2651