Research to treat rare genetic diseases

Designing drugs to improve quality of life for patients living with rare genetic diseases

Healthcare experts and collaborators at Sunderland have been awarded funding of almost £50,000 from Northern Accelerator to develop a drug for the pre-clinical proof-of-concept stage over the next eight months

Symptoms of people suffering Cystinuria, which leads to painful kidney stones, or the rare Wilson’s Disease, a toxic build-up of copper in the liver and brain, could be managed and improved with the development of a new therapeutic drug.

The project complements pioneering research by Professor Roz Anderson and her team who have brought new hope to patients with life-threatening genetic diseases. Cystinosis is an extremely rare condition that, if untreated, can result in patients suffering kidney failure before the age of 10. Professor Anderson sadly lost her battle with cancer last June, but managed to secure £1.6m from the Medical Research Council (MRC) which is taking her research work – designing drugs that could treat and improve the quality of life for Cystinosis patients – to clinical trials.

Sunderland is establishing a critical mass of research focussing on the discovery of new medicines for the treatment of rare inherited metabolic diseases, where there is a significant unmet clinical need. This new project has the potential to offer new hope for patients with two such diseases.


Professor Herbie Newell
Professor of Drug Development at the University of Sunderland

Support Received from Northern Accelerator

Dr Stephanie Myers, Programme Leader and Senior Lecturer in Medicinal Chemistry at the University of Sunderland, applied for pre-incorporation funding from Northern Accelerator. The funding helps academics take their promising research outcomes closer to commercialisation.

Dr Myers said: “This project is very exciting and one which could have an impact on quality of life for thousands of people. We are delighted to receive this proof of concept funding from Northern Accelerator and take forward a project in such an important area of research.”

Going from Strength to Strength

World leading cancer researcher Professor Herbie Newell, who has a background in bringing drugs from discovery to market and is leading the Cystinosis project, will also support this latest project alongside Dr Myers.

As part of the pre-clinical development phase there will be an evaluation of the compound developed by Dr Myers to see what therapeutic effect it has in the lab.  Retired consultant and specialist in Kidney Disease, Stephen Waldeck, will also help steer the project through the various stages of development.