University Hospital of Wales

Posted 3 years ago by Wales Gene Park

We are carrying out research into conditions that affect the brain and / or the immune system. The disorders that we are interested in most likely arise due to changes in genes (or DNA); genes are like recipe books, telling the cells in our body how to make chemicals called proteins. The aim of our work is to understand how changes in the genes and proteins involved in these conditions cause disease. This is not understood at present, and so this research will provide new and important information. We believe that a better understanding of the cause of these diseases will bring us closer to developing ‘smart’ treatments for people affected by, or at risk of, these genetic conditions. The study is likely to take several years to complete and there may be no direct benefit from this research to your child. There would also not be any financial benefit....

 Neurology /  University Hospital of Wales

Posted 3 years ago by Wales Gene Park

Analysis of genes and their functions in patients with primary lymphoedema The aim of this study is to Identify new genes linked with unexplained lymphoedema

 Milroy Disease /  University Hospital of Wales

Posted 3 years ago by Wales Gene Park

A prospective study of Thrombotic Thrombocytopenic Purpura in the UK This is a UK based registry, involving all sites treating newly presenting Thrombotic Thrombocytopenic Purpura (TTP). From this registry, important epidemiological data will be obtained. Admission and remission samples will be collected. DNA will be collected and analysed from patients wishing to participate to determine if any link exists between mutations/polymorphisms and the risk of TTP. As part of NHS commissioning, this study will be undertaking long term follow up, to understand the impact of acute TTP on morbidity and mortality.

 Immune thrombocytopenia /  University Hospital of Wales


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