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10 January 2008
Strict embargo: Not for publication or broadcast before 00:01am GMT, Thursday January 10, 2008
A new study has shown promising results in fighting a severe genetic disorder which can create tumours throughout the body.
Advances in genetic knowledge have transformed our understanding of disease in recent years. We now know which genes are linked to a wide variety of conditions. However, so far, very few cures and treatments have developed as a result of this knowledge.
Now a UK study led by researchers at Cardiff University suggests that a chemical first found on Easter Island could treat the genetic disorder tuberous sclerosis.
Tuberous sclerosis is an inherited disease affecting children and adults which causes tumours to grow in many of the organs of the body. Its consequences can include autism and epilepsy through its effects on the brain. A team from the Institute of Medical Genetics at Cardiff University’s School of Medicine was the first to identify the genes linked with the disease - TSC1 and TSC2.
The Institute is now leading a UK-wide study on a new treatment involving the drug Sirolimus. This was first identified from a soil sample taken from Easter Island and has been shown in the past to control the activity of a protein, mTOR, which is normally controlled by the TSC1 and TSC2 genes. If the genes fail, mTOR is too active leading to tuberous sclerosis.
The UK study tested the effects of Sirolimus on kidney tumours in patients with tuberous sclerosis and a related condition, LAM, a lung and kidney disease affecting young women. The study is at the half-way stage but after one year of treatment the diameters of the tumours have shrunk by an average of 26 per cent. A parallel study in the United States has also reported similar results.
Professor Julian Sampson, director of the Institute of Medical Genetics, said: "This is a small-scale study and we will be treating patients for a further year before it is completed. However, what we have seen so far is very promising and already justifies progression to a larger study in many more patients. The findings offer new hope for what is a very serious and distressing genetic disease."
The results of the two studies are published in the new edition of The New England Journal of Medicine, published on Thursday January 10.
The work of Cardiff’s Institute of Medical Genetics has just been recognised with the award of a Queen’s Anniversary Prize, which rewards excellence in the Higher Education sector. The identification of the tuberous sclerosis genes was one of the achievements listed in the Prize submission, along with a letter of commendation from the Tuberous Sclerosis Association. The award to the Institute will be presented by Her Majesty the Queen at Buckingham Palace next month.
Cardiff University is recognised in independent government assessments as one of Britain’s leading teaching and research universities. Founded by Royal Charter in 1883, the University today combines impressive modern facilities and a dynamic approach to teaching and research. The University’s breadth of expertise in research and research-led teaching encompasses: the humanities; the natural, physical, health, life and social sciences; engineering and technology; preparation for a wide range of professions; and a longstanding commitment to lifelong learning. Cardiff is a member of the Russell Group of the UK’s leading research universities.
Visit the University website at: www.cardiff.ac.uk
Cardiff School of Medicine
Cardiff University’s School of Medicine is a significant contributor to healthcare in Wales, a major provider of professional staff for the National Health Service and an international centre of excellence for research delivering substantial health benefits locally and internationally. The school’s 800 staff include 500 research and academic staff who teach more than 2,000 students, including 1,110 postgraduate students.
The School is based at the Heath Park Campus, a site it shares the University Hospital of Wales, the third largest university hospital in the UK. The School has an all-Wales role, contributing greatly to promoting, enhancing and protecting the nation’s health.
The School is an international leader in basic and clinically applied research activities and scored highly in the most recent Government Research Assessment Exercise. School of Medicine researchers annually win tens of millions of pounds in research awards to work with Government, the healthcare industries and the charitable sector on the most pressing issues of human health. The School has six interdisciplinary research groups to draw upon its own strength in depth and the vast range of expertise available across Cardiff University. These groups are addressing cancer; health sciences research; cardiovascular sciences; genomic approaches to health and disease; infection, immunity and inflammation; metabolism repair and regeneration. The School has been instrumental in establishing and running many important national research initiatives including the Wales Gene Park, Wales Cancer Bank, the Cardiff Institute for Tissue Engineering and Repair and the Healing Foundation UK Centre for Burns Research. The Wales Gene Park is involved in biomedical research, the provision to the NHS of novel diagnostic and clinical services, knowledge dissemination, genetics and genetics education, and the successful commercialisation of innovations arising from such activities.
For further information, please contact:
Professor Julian Sampson,Institute of Medical GeneticsSchool of MedicineCardiff University02920 744050Sampson@cf.ac.uk
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