Supporting Alkaptonuria Research – Establishing a PhD studentship

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group of people in a hospital corridor
L-R; Professor George Bou-Gharios; Mrs Debbie Gregory; Rebecca Brown, PhD student; Mr Paul Gregory.

Alumnus Paul Gregory and his wife Debbie established the ‘Robert Gregory Fund’ in 2022 in memory of their brother Robert Gregory.

Robert Gregory (pictured below) was an AKU sufferer diagnosed with alkaptonuria when he was in his 40’s. AKU is a rare, hereditary metabolic disease, affecting 1 in every 250,000 – 1,000,000 people, that causes severe early-onset osteoarthritis. It wasn’t until the symptoms of the disease began to take hold that Robert became frustrated with the lack of information and support available around this rare genetic condition. Frustrated with his situation and determined not to let anyone go through the same uncertainty, he convinced his doctor to help him found the AKU Society in 2003.

man with beard in profile in shirt and tie

The AKU Society is now a national charity with a Centre of Excellence in Robert’s hometown of Liverpool, which provides patients with expert care and advice from leading experts on the disease. This National AKU Centre was established by the Department of Health (National Specialised Services Commissioning Group) and opened to patients in 2012 and is based at The Royal Liverpool University Hospital.

Researchers at the University of Liverpool developed the first effective pharmacological treatment option for the disease which transformed management and experience of the disease. However, with Robert’s legacy, the family wanted to do more and support novel approaches in Gene Therapies at the University of Liverpool led by Professor Bou-Gharios, which aim to accelerate a cure for this genetic disease with improved patient outcomes.

July 2023 saw the 13th International Scientific Conference on AKU in Bratislava, with over 100 attendees from 19 countries, uniting the international AKU scientific community and represented the opportunity to discuss the current and future research being conducted into the management of AKU and the development of potential treatments and cures. The University of Liverpool researchers were at the forefront of this conference, which commenced this world leading PhD studentship in Gene Therapies.

The studentship was funded by a generous donation from the Gregory family and The Robert Gregory National Alkaptonuria Centre, and ensures Robert Gregory’s extraordinary determination and dedication in offering support and finding a treatment for this debilitating disease continues to give hope to thousands of AKU patients globally.