Liquid biopsy of EB blister fluid for stem cell isolation and development of gene therapy strategies
Lay summary
Epidermolysis bullosa (EB) research and diagnosis relies on cells donated by patients. Currently, the standard method for collecting EB patient skin cells is a ‘punch biopsy’, a painful and invasive technique that removes solid chunks of patients’ skin. ‘Liquid biopsies’ would instead take fluid with a simple needle and syringe, making them significantly less painful and invasive.
Our proposed research would establish whether a liquid biopsy blister fluid approach could be used to obtain cells required for EB diagnosis and development of gene therapy strategies (fibroblasts, keratinocytes, and mesenchymal stromal cells), which would significantly reduce burden on patients. After collection, we will use biomarkers to quantify the presence and proportion of the cell types present in the blister fluid.
Scientific Summary
‘Punch biopsies’ are an invasive but essential source of patient cells for epidermolysis bullosa (EB) research. ‘Liquid biopsies’ of blister fluid represent a less invasive option. Adaptation of existing protocols to isolate keratinocytes, fibroblasts, and stem cells will allow development of a new EB biobank.
We will combine two existing techniques:
- isolation of mesenchymal stromal cells (MSCs) from blister fluid (Kikuchi et al., 2023), and
- existing pipelines to isolate keratinocytes and fibroblasts from solid biopsies.
