% To collect information about purine and pyrimidine (PP) disorders in Europe and create a Network of people with special knowledge of these disorders and the experience required for their diagnosis.
To develop diagnostic services appropriate to each country through training programmes and increase awareness of these disorders among clinicians, service providers and patient support groups.
To develop a European database accessible through the Internet, which will include a table of defects, their prevalence, clinical and laboratory presentation and the location of diagnostic services.
To coordinate and advance basic research into the pathophysiology of PP-disorders by promoting exchange and training of talented young European researchers and bring together the critical mass of state of the art equipment and knowledge in the form of experienced personnel.
To establish a bank of genetically deficient cells to minimise research involving animal experimentation and promote collaboration with European industry to develop screening tests for the detection of PP-disorders and new drugs for their treatment.
To apply the knowledge derived from these genetic disorders to research devoted to understanding and treating more common conditions e.g. cancer, leukaemia, rheumatoid arthritis, heart disease.
The aim of this project is to enhance understanding of the disease mechanisms involved in inborn errors of purine and pyrimidine (PP) metabolism, improve European diagnostic structures and develop therapeutic strategies to treat these disorders. This is vital not only because the diseases themselves can jeopardise children's lives, but also because of the importance of the study of these disorders in understanding energy and nucleotide metabolism in humans. This metabolism serves many important functions, including the synthesis of the building blocks of DNA. Genetic defects involving single enzymes in these pathways may present as anaemia, gout, immunodeficiency, kidney stones, renal failure, or severe neurological deficits in children and adults, sometimes as life-threatening reactions to analogue therapy. This range means there is noone clinical speciality to give support. They are recently recognised and little known in Europe. Few diagnostic services exist, nine countries apparently having no such service. Early death, institutionalisation for life, or progression to dialysis and transplantation is frequent. Treatment where possible is life-long. They are thus 'orphan diseases', frequently misdiagnosed or undiagnosed, tragic to the family and costly to European health services.
Their apparent rarity means that they do not attract research funding locally and no country alone can provide the case mix or resources required improving treatment. Diagnosis requires specialist centres aware of potential pitfalls, which can mask correct diagnosis, such as blood transfusion or drugs. Importantly, knowledge derived from these 'experiments of nature' helps delineate normal and is now being applied to understanding and treating more prevalent conditions.
This proposal, forms part of a longer-term plan supported by the European Society for the Study of Purine and Pyrimidine Metabolism (ESSPPM) to establish a network to advance diagnosis and promote collaborative research into PP and allied disorders with its headquarters at the UMDS Guy's Hospital, London, GB.
The major aims of this project are to: a) collect information about PP disorders in Europe and create a network of people with special knowledge of these rare disorders and the experience required for their correct diagnosis; b) develop diagnostic services appropriate to each country through training programmes and increase awareness by making information available to clinicians, service providers and patient support groups; c) develop a European database accessible through the Internet, which will include a table of defects, their prevalence, clinical and laboratory presentation and the location of diagnostic services; d) coordinate and advance basic research into the pathophysiology of PP disorders by promoting exchange and training of talented young European researchers and bringing together the critical mass of state of the art equipment and knowledge in the form of experienced personnel; e)establish a bank of genetically deficient cells to minimise research involving animal experimentation and collaborate with European industry to develop screening tests for the detection of PP disorders and new drugs for their treatment. The benefits would be: f)improved quality of life for all patients and families and cost-effectiveness through avoidance of unnecessary tests, delay or mistakes in diagnosis, lack of awareness, or inadequate reference data; g)advancement of knowledge and European research capability through training and exchange; h) backup for European industry with unique expertise, research facilities and patient population. 01 01
Funding SchemeCSC - Cost-sharing contracts
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