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Fight continues against rare condition

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Published on 06 March 2019

Professor Roz Anderson
Professor Roz Anderson

A £1.6m grant will help continue the legacy of an “inspirational” Sunderland scientist dedicated to improving the treatment of patients with a rare life-threatening genetic disease.

Professor Roz Anderson who sadly lost her battle with cancer last summer, had worked tirelessly in the months previous to secure a grant from the Medical Research Council (MRC) which would take her research work - designing drugs that could treat and improve the quality of life for Cystinosis patients - to preclinical trials.

There is currently no cure for Cystinosis, which occurs when the body is unable to process cystine (an amino acid). Normally a person can excrete cystine, but for people with the condition, it attacks every organ in the body, particularly the kidneys, muscles and eyes. Without treatment, patients can die from kidney failure before the age of 10.

The current treatment for the disease, cysteamine, produces unpleasant side effects, such as nausea, vomiting, halitosis, body odour and a noxious taste. A large dose of the drug is required four times a day for patients, meaning that most patients need to take over 20 capsules every day.

But Prof Anderson and her team designed novel prodrugs to take the effective treatment directly to the cells that need it, improving its absorption, limiting metabolism and reducing the unpleasant side effects.

The MRC Developmental Pathway Funding Scheme is now funding a group of leading healthcare experts and collaborators over the next two years to complete the pre-clinical development stage and prepare for clinical trials.

Dr Adrian Moore, Head of School, Pharmacy and Pharmaceutical Sciences, at the University, said: “The MRC grant is taking Roz and her team’s drug from the University laboratory synthesis stage to what may become the final manufacturing preparation. Roz worked so hard towards the end of her life to ensure this investment was secure and was highly delighted when the money was awarded. We understand it’s one of the highest graded grants that has been awarded through the MRC in the last two years. It’s also the legacy of 15 years of dedicated work by Roz that is offering so much hope to Cystinosis patients and their families.”

World leading cancer researcher Professor Herbie Newell, who has a background in bringing drugs from discovery to market, will lead the project.

He explains: “It is a great privilege to take over as the Principal Investigator on the MRC-funded project to develop a new treatment for patients with the incurable genetic disease Cystinosis. 

“Professor Roz Anderson was an outstanding medicinal chemist who I knew for a number of years and admired as a colleague. Her ground-breaking work offers real hope for Cystinosis patients, and I look forward to working with colleagues at the University of Sunderland and in pharma to bring this new medicine to patients.”

As part of the pre-clinical development phase, the production of the drug will be scaled up and regulatory safety studies will be performed.

Retired consultant and specialist in kidney disease, Stephen Waldek, will also help steer the project through the various stages of development.

 Professor Roz Anderson

A Professor of Pharmaceutical Chemistry Roz joined the University in 1987. In her 31-year career as a researcher at the University of Sunderland she worked on the treatment of Alzheimer's disease, diagnosis of bacterial infections, psoriasis and cancer, but her particular passion was the battle against the rare genetic disorder Cystinosis. Typically, Roz’s work was not confined purely to the lab, and she made a point of meeting and discussing her work with the children affected by this illness and their families, which she maintained was an essential aspect of her work.

Roz was awarded a WIN Award in the STEM Category at the Network North East Woman Entrepreneur of the Year Awards in 2016. Her WIN Award reflected in part to her strong belief in teamwork and making a difference in society by inspiring future generations. Despite her intense research work, Roz insisted on working alongside undergraduate and PhD students and post-doctoral scientists, to ensure that young people are advocates for the advancement of medicine and society.


Cystinosis occurs when the mechanism which removes excess cystine, an amino acid, breaks down. It then accumulates within body cells preventing cells from functioning correctly.

This initially leads to kidney problems and progresses to other parts of the body, including muscles and eyes. Impaired growth is yet another symptom of the condition. In the past, it was rare for Cystinosis patients to survive into adulthood.

However, with better understanding and earlier diagnosis, it is possible for sufferers to lead a longer, fuller life.

Cystinosis is a rare inherited disease, occurring in about one in 200,000 births within developed countries, where both parents carry a faulty gene but don't have the disease, because they also each have a normal gene to compensate. If they both pass the recessive Cystinosis gene to their child, the disease will develop.

Professor David (Herbie) Newell

Professor Newell was the founding Scientific Director of the Northern Institute for Cancer Research, and is Past-Chairman of the British Association for Cancer Research and of the Laboratory Research Division of the European Organisation for Research and Treatment of Cancer. He was Director of Translational Research at Cancer Research UK from 2006 to 2009, and interim Executive Director of Clinical and Translational Research in 2007/8.

He is also an Emeritus Professor of Cancer Therapeutics at Newcastle University. He was awarded a CBE in this year’s New Year’s Honour List.

Professor Newell was previously involved in the development of the registered cytotoxic agents carboplatin (Paraplatin®) and ralitrexed (Tomudex®), and until his retirement in 2016 was working on the discovery and development of molecularly-targeted anticancer drugs and associated predictive and pharmacological biomarkers, such as rucaparib (Rubraca®). 

In addition he has served on numerous international translational cancer research review panels, most recently in France, Germany, the Netherlands and Malaysia. In 2011, Professor Newell was elected to the UK Academy of Medical Sciences.