Functional Genomics of Ankylosing Spondylitis
Ankylosing spondylitis (AS) is a chronic inflammatory disease causing arthropathy of the spine. The exact cause for the disease development in not known, but there are genetic components associated with AS including presence of the Major Histocompatibility Complex (MHC) gene HLA-27B. Human genetic variation may contribute to susceptibility to complex diseases such as AS and recent Genome-Wide Association Studies (GWAS) identified a number of putative non-MHC risk alleles. My research involves interrogating these genomic loci in the context of their spatial organization to determine their chromatin interactions with nearby genes and regulatory elements. I apply cutting edge techniques of enriched chromosome conformation capture to study local genome folding at high resolution. This work also aims to integrate other Next-Generation Sequencing (NGS) datasets generated in the lab as well as functional CRISPR experiments to provide comprehensive insights into genomics of AS.
I obtained my bachelor’s degree from the University of the West of Scotland and a masters degree from the University of Edinburgh where I studied microRNAs in CMV infection. I then worked as a research assistant at University of Cambridge studying the plant circadian clock and oscillation of gene expression. In 2017 I completed my PhD at the Babraham Institute (University of Cambridge) investigating the genomic contacts of the mouse immunoglobulin loci. Following my interest in chromatin organization I’m applying chromosome conformation capture methods to study AS risk loci.