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Juliette Hughes is a PhD student at the University of Liverpool and her supervisors are Prof James Gallagher, Prof George Bou-Gharios and Prof Lakshminarayan Ranganath. She studied a BSc in Anatomy and Human Biology, followed by a Master of Biological Science, also at the University of Liverpool.

Juliette’s research involves using the Alkaptonuria (AKU) mouse model to study the disease. Her main project focusses on the elevated tyrosine associated with Nitisinone treatment in the AKU mice, and potential strategies that could combat this. A strategy to lower elevated tyrosine would allow patients treated with Nitisinone to eat a diet with a normal level of protein.

Juliette has also spent time characterising a new AKU mouse model that has a targeted homogentisate 1,2-dioxygenase (HGD) gene mutation. This model has the addition of tools to allow HGD localisation and also tissue-specific HGD deletion. Tissue specific deletion provides information that may be useful for future gene therapy for AKU, helping us to understand where and how much gene therapy will be required to lower HGA levels.

Juliette’s PhD is jointly funded by the AKU Society And the Royal Liverpool and Broadgreen University Hospital.