Dr Juliette Hughes PhD, MBiolSci, FHEA, PGCTHE

Personal Statement

I am a curious early career researcher and anatomist, with an interest in extracellular matrix, particularly of calcified cartilage. My previous work has investigated the rare metabolic disorder Alkaptonuria (AKU), in which a deficient liver and kidney enzyme results in increased levels of a pathological metabolite called homogentisic acid (HGA) that causes pigmentation and severe degeneration of connective tissues. Severe and early-onset osteoarthritis is one of the major symptoms of AKU, however unlike general OA, AKU cartilage pathology begins in the deepest layer of the articular cartilage in the calcified region. My research aims to determine where the HGA binds within extracellular matrix and how its binding subsequently leads to connective tissue destruction, which may share similarities to more common degenerative disorders such as OA.

I achieved a BSc in Anatomy and Human Biology at the University of Liverpool (2015), followed by an integrated Master's Biological Science (2016). I then joined Professor James Gallagher and Professor George Bou-Gharios’ research groups to undertake my PhD in the Department of Musculoskeletal Biology in the Institute of Ageing and Chronic Disease at the University of Liverpool (2016 to 2020), with additional supervision from Professor Lakshminarayan Ranganath. My PhD, funded by the AKU Society, phenotyped a new conditional and targeted mouse model of alkaptonuria (AKU), reporting both the metabolic and connective tissue phenotype, with conditional knockout experiments determining gene expression levels and locations required to rescue the alkaptonuria phenotype. My PhD work also provided evidence that reduction of dietary intake of phenylalanine and tyrosine is effective at reducing drug-induced tyrosinaemia in alkaptonuria mice. I then joined Edge Hill University as a Lecturer of Anatomy in the Undergraduate Medical School (Jan 2021 - July 2023), before obtaining a teaching and research Lectureship in Anatomy at the University of Liverpool in the Institute of Life Course and Medical Sciences, which is my current post.