In today’s blog, we introduce Juliette Hughes, who is currently
researching a PHD at the University of Liverpool under the guidance of AKU researcher Professor Jim Gallagher. Her PHD, entitled “Combating tyrosinaemia
in the genetic disease Alkaptonuria” is funded by the AKU Society based in Cambridge UK and will hopefully lead to a better understanding of the relationship
between tyrosinemia AKU and nitisinone.
I am delighted to have been offered a PhD research project involved with Alkaptonuria, and cannot wait to start in November. I feel privileged that I have the opportunity be part of research that has the potential to impact patients in the future.
I completed my degree, Anatomy and Human Biology, at the University of Liverpool. This is where I first came across AKU. My third-year research project was with Prof Jim Gallagher and his lab group, who study AKU amongst other things. Although my project itself was not involved with AKU, I heard about the AKU research they were involved with. I remembered being fascinated to hear that the AKU research community had discovered a potential treatment – Nitisinone. Before this point, I didn’t really know a lot about research, only what I had heard from lectures throughout university. It was then that I realised just how amazing research could be – working to help cure/treat a rare condition that could eventually save/improve someone’s life.
After my third year, I decided to continue at university and do a 4th year, which involved a bigger research project than my third year. I really enjoyed my 4th year and learnt a lot of skills that I am hoping will be useful for the PhD project I am undertaking. Straight after graduating university, I got a job as a Medical Laboratory Assistant in Clinical Biochemistry at the Royal Hospital. Work that has a clinical aspect always appeals to me. I love knowing that what I am doing benefits someone else, no matter how small my contribution to the whole process. The translational element of the PhD I am going to do was one of the things that drew me into applying. Being part of cutting edge research to eventually help a patient is such a fantastic opportunity.
I have never worked with rare diseases before, so this will be a great experience getting know AKU. The ultimate goal of the project is to develop a treatment for the high serum tyrosine levels associated with Nitisinone therapy, ready to be trialled in AKU patients.
DevelopAKUre is a series of major international clinical trials, run by a consortium of 12 European partners. It aims to study a potential new drug, called nitisinone, and assess its potential effectiveness in treating the rare disease, alkaptonuria (AKU).
DevelopAKUre is co-funded by a grant from the European Commission. This website is run by a UK patient group, the AKU Society. Learn more about AKU on the AKU Society's What is AKU page.
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