Anna Sanniti

DPhil Student

Functional genomics of ankylosing spondylitis



Understanding the molecular mechanisms involved in disease pathogenesis is vital in developing tailored therapies for an effective and safe approach to treatment. Ankylosing spondylitis (AS) is one such condition in which disease aetiology is not well understood.

AS is a common severe inflammatory arthritis, in which there are currently no disease specific treatments. Genome wide association studies have demonstrated a strong association with the Major Histocompatibility Complex (MHC), in particular HLA-B27, although it is now clear that many non-MHC loci are also associated with disease.

My project involves functionally characterising these loci, many of which are located in intergenic regions, suggesting they may be having an effect on gene expression. Expression quantitative trait (eQTL) mapping is a way to define variants associated with differential gene expression at genome-wide resolution and can aid us in understanding how these variants act in a cell-type specific and context specific manner to promote disease pathogenesis. This will aid in our understanding of functional genetic variation specific to AS, but also provide insight into other related immune mediated diseases.

Previously, I completed an MSc in Pharmacogenetics and Stratified Medicine at UCL, and have a keen interest in translational genomics. During my thesis I analysed the association between expression levels of afamin, a vitamin E binding protein with CHD and metabolic syndrome incidence in the Northwick Park Heart Study II. I have also worked as a systematic reviewer at the University of Liverpool Reviews and Implementation Group, where I was involved in a scoping study assessing the clinical and cost-effectiveness of utilising next generation sequencing for diagnosing children with intellectual disability.