Queen Square Centre for Neuromuscular Diseases


Bridge Neuropathic pain (NIHR Pain Consortium)

SponsorCambridge University Hospitals NHS Foundation Trust & University of Cambridge
FunderNIHR BioResource - Rare Diseases
CIProfessor Mary M Reilly
SitesLondon Queen Square


High impact gene variants are responsible for heritable disorders of pain sensing. This includes both increased and reduced pain sensitivity. These conditions were thought to be acquired. But we now know that a large number of cases have a genetic basis (e.g. small fibre neuropathy).

Primary objective

To perform whole genome sequencing on 1000 patients with neuropathic pain.

This study has relevance for diagnosis and tailoring treatment for these disabling conditions. It has catalysed the formation of clinical pain research collaboration of:

  • Biomedical Research Centres (BRC) of Cambridge
  • Guys/St Thomas /Kings College
  • Great Ormond Street
  • Imperial
  • Oxford
  • Royal Marsden
  • UCL

This is a multidisciplinary grouping of clinician scientists dealing with chronic pain including:

  • pain physicians
  • neurologists
  • dentists
  • paediatricians
  • and clinical geneticists

This study will use existing clinical facilities of the respective BRCs. This will enable development of large clinical pain cohorts and add to expertise in genetic analysis and clinical phenotyping.

It will also allow us to study the role of high impact gene variants in different pain disorders.

The collaboration will aim to:

1. Find the genetic basis for inherited pain disorders.

2. Reduce the delay in making genetic pain diagnoses, e.g. small fibre neuropathy.

3. Discover genotype/phenotype correlations enabling patient stratification to predict prognosis and treatment response.