Investigating which genes and cell types contribute to inflammation in the early stages of ankylos-ing spondylitis

Disease - Ankylosing spondylitis

Lead applicant - Dr Stephen Sansom

Organisation - University of Oxford

Type of grant - Full Application Disease

Status of grant - Active

Amount of the original award - £716,522.74

Start date - 01 January 2020

Reference - 22252

Public Summary 

What are the aims of this research?  

The cause of ankylosing spondylitis remains unclear. Immune cells are known to play a central role, along with the HLA-B27 gene, but important pieces of the jigsaw remain missing. This research aims to discover the missing pieces of this puzzle; revealing cells, pathways and genes that cause and respond to inflammation in ankylosing spondylitis.

Why is this research important?

Identifying the cause(s) of ankylosing spondylitis is important because there is no cure and current treatments only succeed in 60-70% of patients. This research aims to use ‘single cell RNA-sequencing’ to understand the cause of the disease. This technique can identify the genes and bio-logical pathways that are active in thousands of cells in parallel. This can be used to discover which cells and pathways might contribute to ankylosing spondylitis and determine the particular time and place they are active. This study will look at large numbers of individual cells from patient samples taken from three typical sites of inflammation (pelvis, knee and eye), to try and find common genetic features between them, to try to understand how ankylosing spondylitis develops.

How will the findings benefit patients? 

The goal of this research is to uncover genes and biological pathways that contribute to ankylosing spondylitis. This in turn could deliver a prioritised set of molecular and cellular targets, for which new treatments could be developed. These treatments have the potential to stop or even reserve ankylosing spondylitis onset. The findings are also hoped to help to inform under-standing and treatment of other forms of spondyloarthritis.