Nikhil Faulkner
MBiochem final year student
Genome-Wide Association Studies (GWAS) reveal that 90% of SNPs associated with disease are located in non-coding DNA, highlighting the importance of regulatory variants for disease. Establishing the function and mechanism of disease pathogenesis, however, still proves to be challenging. My project aims to identify functional variants which cause disease, with a specific focus on Ankylosing Spondylitis (AS). This involves identifying a candidate gene which is likely to be mis-regulated in AS patients and mapping single nucleotide polymorphisms (SNPs) to a regulatory region of this gene target. Using CRISPR, it is possible to knock-out this regulatory region and observe the effect on target gene expression using RT-qPCR. This information will further characterise the pathology of AS.
I am currently studying for an undergraduate MBiochem degree at the University of Oxford. I am interested in the regulation of gene expression and how disease can alter gene expression. I am also interested in how an understanding of these can be used in a translational context. I have previously worked in labs researching T-cell therapy for blood leukaemia, with my projects focusing on maximising expression of a chimeric antigen receptor on the surface of T cells.