The Purine Research Unit, St Thomas’ Hospital

The unit has developed and now provides a national diagnostic service which includes prenatal diagnosis, infant/adult diagnosis, carrier detection and therapeutic drug monitoring.

The unit does not deal directly with public telephone calls or correspondence. However, contact details can be supplied by PUMPA to legitimate and verified members of the medical profession.

History

The Purine Research Unit was established at Guy’s Hospital in 1970 by Dr H. Anne Simmonds, PUMPA Committee Member, not long after the recognition of the first genetic purine defect in 1967. Since then it has made major contributions to understanding the metabolic basis and consequences of the twenty-eight other enzyme defects now recognised.

It is the only unit in Britain conducting purine research, has identified more patients in the UK with adolescent gout than have been reported worldwide, and is now looking for the gene for this illness, which affects young men, women and children. The correct and early diagnosis of many of these conditions by the unit has frequently saved both much personal suffering and huge costs to the National Health Service.

The unit has participated in European Exchange Schemes, supported by the Royal Society, the British Council and NATO, and recently co-ordinated a prestigious EC grant to improve research and diagnosis involving 19 countries, nine of which had no such diagnostic facility previously. Success could assist other like disorders.

Medical scientists and doctors have come to the unit from all over the world. The continuance of this vital research work is paramount.

What research is being done?

Since the first priority of many patients is finding a cure, PUMPA’s fundraising activities are directed to ensuring continuance of diagnosis and research by the Purine Research Unit at St Thomas’ Hospital and aiding collaboration with allied groups throughout Europe.

This unit was the first to recognise some of these disorders through its research, and along with other EU groups has devised methods for their diagnosis which did not exist previously. It has developed the only diagnostic service for Britain to which patients are referred from around the world. Its research has already helped sufferers and reduced NHS costs.

The unit has also improved patient recognition in Europe by coordinating a 3 year EC grant involving 19 countries which resulted in the establishment of the first-ever diagnostic network in all 19, 9 of which had no previous facility. This in turn stimulated research between experts in various medical fields throughout the EU. Termination of the grant means this productive effort needs to be sustained to speed the advance of knowledge to devise treatments, devise better drugs, dosage regimes, or therapies for more common diseases as well.

How can these genetic disorders benefit more common ills too?

Such ‘experiments of nature’ give unique insight into normal nucleotide metabolism which is severely disrupted in cancer and autoimmune disease – knowledge now attracting industry and investigators worldwide to find better ways to treat such disorders which kill millions annually. EU collaborative patient-based research has also suggested more effective use of purine- and pyrimidine-like drugs used daily to treat cancer, or stop lymphocytes from attacking a transplanted organ or the body itself (for instance, in rheumatoid arthritis), or to restrict viral multiplication (AIDS, hepatitis C).