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Julie Osgood

DPhil Student

Functional genomics of ankylosing spondylitis

 

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Ankylosing spondylitis (AS) is an autoimmune disease characterized by chronic inflammation, new bone formation, and fusion of joints. Though much of its aetiology is unknown, our current understanding is that AS is largely a genetic disorder. Previous studies have associated it with the Major Histocompatibility Complex (MHC) in the human genome, and more specifically with HLA-B27. However, being HLA-B27 positive does not guarantee disease pathogenesis and many studies are now finding many more loci within the genome that could contribute to a diseased state. The overall aim of my project is to understand the functional basis for the newly uncovered genetic associations for AS. We hope to validate and fine map regulatory variants associated with AS and use data from functional genomic and epigenomic profiling to generate hypotheses regarding their mechanism of action. It is also our hope to characterize specific candidate loci associated with AS pathogenesis.

I received a First Class Honours degree in Biomedical Sciences from the University of Calgary in 2015. Over my degree I had the opportunity to work on many research projects including those in the fields of synthetic biology, developmental genetics, and medical genetics. My thesis was focussed around finding a less invasive way to diagnose mitochondrial disease by transitioning from traditional Sanger sequencing to Next Generation Sequencing (NGS). In 2013 I also had the opportunity to compete with the University of Calgary Genetically Engineered Machine (iGEM) team where we worked to develop a novel system for detecting pathogenic E. coli in the beef processing industry.