University Hospital of Wales

Posted 3 months ago by Wales Gene Park

Polycystic ovary syndrome (PCOS) affects 10% of all women and usually presents with irregular menstrual periods and difficulties conceiving. However, PCOS is also a lifelong metabolic disorder and affected women have an increased risk of type 2 diabetes, high blood pressure, and heart disease. Increased blood levels of male hormones, also termed androgens, are found in most PCOS patients. Androgen excess appears to impair the ability of the body to respond to the sugar-regulating hormone insulin (=insulin resistance). The investigator has found that fat tissue of PCOS patients overproduces androgens and that this can result in a build-up of toxic fat, which increases insulin resistance and could cause liver damage. In a large cohort of women registered in a GP database, the study team have found that androgen excess increases the risk of fatty liver disease. The aim is to identify those women with PCOS who are at the highest...

 University Hospital of Wales

Posted 2 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 2 years ago by Wales Gene Park

EuroNet-PHL-C2: Second International Inter-Group Study for Classical Hodgkin's Lymphoma in Children and Adolescents Treatment for Hodgkin lymphoma is often very successful, and has given us high cure rates. Standard treatment is chemotherapy, and in children and young people, additional radiotherapy is sometimes needed. Unfortunately, radiotherapy can lead to long-term side effects, such as cardiovascular system disease and increased risk of secondary cancers later on in life. In this trial, researchers want to individually tailor treatment for each child and young person, effectively treating Hodgkin lymphoma, but avoiding over-treatment and thereby reducing the late side-effects. the main goal is to further reduce the use of radiotherapy, thereby avoiding the long-term side effects often seen with radiotherapy. The aim of this study is to: Reduce numbers of children needing radiotherapy and minimise the extent of irradiation Investigate if intensifying chemotherapy in children with intermediate/advanced Hodgkin lymphoma will compensate for the reduction in radiotherapy

 Classic Hodgkin lymphoma /  University Hospital of Wales

Posted 2 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 2 years ago by Wales Gene Park

Cystic fibrosis (CF) is an inherited condition where the lungs and digestive system become clogged with mucus. Lung infection is common and needs to be treated aggressively with antibiotics even if it isn’t causing many symptoms. Doctors need to use different antibiotics for different types of infection. In order to identify which bacteria is causing the infection, the child is often asked to give a cough swab, so that a sample of their airway liquids can be sent to the lab to see if anything grows. Cough swabs are relatively easy to obtain but are not as good a test as bronchoscopy, where a fibre-optic camera is put down into the large airway of the lungs so that mucus samples can be taken directly from the lower airway. Obviously having a bronchoscopy is a much larger procedure than having a cough swab, but sometimes it is necessary. Some CF centres...

 Cystic Fibrosis /  University Hospital of Wales

Posted 2 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

Posted 2 years ago by Wales Gene Park

Pustular psoriasis: eLucidating Underlying Mechanisms Pustular forms of psoriasis are characterised by painful, intensly inflamed, red skin studded with sterile pustules. The disease may be chronic and localised, typically to the hands and feet, or, more rarely, more generalised across the body and potentially life-threatening. Although pustular psoriasis accounts for less than 10% of psoriasis cases it consistently ranks highest among all variants in terms of symptoms and functional impairment. There is recent evidence, including work from our own group, to suggest that distinct underlying genetic and molecular pathways found in patients with pustular disease could be responsible for this particular disease presentation. The poor response to therapies used to great effect in other types of psoriasis may also be expla In PLUM we aim to identify and understand the genes that may have an influence on the development of pustular psoriasis, related immune pathways and responses to treatment. We...

 Generalized pustular psoriasis /  University Hospital of Wales


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