Development and validation of a minimally invasive comprehensive diagnostic coeliac disease test

Professor Elizabeth Soilleux, is an academic clinical pathologist at the University of Cambridge and honorary consultant at Addenbrooke’s hospital in Cambridge. Here, her team attempted to develop a laboratory based method of diagnosing coeliac disease without the need for the patient to consume gluten or to have an endoscopy and biopsy.

In coeliac disease, lymphocytes (a type of white blood cell) attack tissues in the gut.The lymphocytes involved in coeliac disease have previously been showntohave a unique section of DNA specificto coeliacdisease. This project aimed to develop adiagnostictest based on reading this section of DNA in patients.It was hypothesised that reading these sequences could identify people with coeliac disease.

Professor Soilleux’s teamlooked at DNA inbothblood samples andtissue from the gut (duodenal biopsies)obtained from the Cambridge University Hospitals Human Tissue Research Biobank. They compared samples from people diagnosed with coeliac disease and people who did not have a diagnosis of coeliac disease.

The project successfully created a cheaper and simpler method of finding lymphocyte DNA sequences, but unfortunately, this method did not find enough lymphocyte DNA sequences in each sample tobe a suitable method of providingan accurate diagnosis.

The research has created a greater understanding of what needs to be obtained from a patient sample for an accurate diagnosis of coeliac disease using this method. Progress was made on the methods for analysing lymphocyte DNA sequences. When a more suitable laboratory method for obtaining these DNA sequences from patient samples is identified, a new diagnostic test could be developed that does not require gluten consumption.

Theinitial funding has also primed further funding and the researchers of this project have been awarded a £5 million grant as this new method of analysing lymphocyte DNA shows significant promise in exploring lymphocytes in cancer research.

This grant was jointly funded by Coeliac UK and Innovate UK. Innovate UK is an organisation within the UK government’s national research and funding agency that invests in science and research.