Human tissues (WP6)

2 Vacutainer blood tubes on a sample rack
By using blood samples and skin biopsies taken from PAINSTORM participants, we will be able to perform a number of studies. We will study whether these samples can be used as a biomarker for neuropathic pain. Another use will be to study the properties of biological structures involved in the processing of pain, like ion channels. We can also study how genetic variants identified in Work Package 5 influence these structures.
The samples collected in PAINSTORM are a precious resource for research, as they come from a large number of participants with detailed information on their disease. The samples will be kept in a storage facility called a biobank. Other researchers will be able to apply to access these samples in future, to support further research on neuropathic pain.

 

Despite considerable investment in pre-clinical discovery using animal models, translating this knowledge into more effective therapies for patients with neuropathic pain has been challenging. We will use human biosamples from deeply phenotyped participants to advance understanding of neuropathic pain disease pathology, develop biomarkers for treatment stratification, aid direct target discovery and provide a lasting legacy.

 

The collection, transport, and processing of samples is harmonised across the PAINSTORM centres. We are collecting whole blood and plasma to allow comprehensive evaluation of genetic, transcriptomic, metabolomic and immunological factors associated with neuropathic pain. In addition, we are taking skin biopsies from people with diabetes or small fibre neuropathy to evaluate structural neural integrity.

Samples are shipped to and stored in the Imperial College Healthcare Tissue Bank (ICHTB). After the end of the project, responsibility for the samples will transfer to ICHTB. Its access committee will have ongoing representation from PAINSTORM. This will enable managed public access to bioresources.

Bio-samples will be used for a range of analyses to validate molecular pathways contributing to neuropathic pain, for instance:

  • Neurofilament light chain;
  • RNA sequencing;
  • Automated patch clamp electrophysiology to study ion channels; prioritisation of which variants to study will be coordinated with Work Package 5;
  • Induced pluripotent stem cells (iPSCs).

This work is ongoing. Come back later to read about our results!

  1. This paper studies rare genetic variants in Nav1.7, illustrating how patch clamp electrophysiology can be used to examine the functional impact of genetic variants: Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy Open Access logo which is a illustration of an open padlock
  2. Andreas Themistocleous and Debra Ehrlich interview Ted Price for the Brain Podcast on his latest paper: "RNA profiling of human dorsal root ganglia reveals sex differences in mechanisms promoting neuropathic pain" (podcast | article Open Access logo which is a illustration of an open padlock)