This research project will study a group of rare blood disorders in children, called Paediatric Myelodysplastic Syndromes (MDS).Paediatric MDS is characterised by failure of normal blood cells production. Without treatment these syndromes are usually fatal and can lead to leukaemia.The aim of this project is to improve our current understanding of the molecular pathways that lead to the disease development;identify all the disease related genetic abnormalities;document the natural history of the disease;create correlations between the clinical presentations and genetic defects and ...

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Parkinson’s disease (PD) is a progressive, neurodegenerative disorder characterised by the motor symptoms of resting tremor, rigidity, slowness of movement and poor balance. At the time these symptoms first emerge, and the clinical diagnosis of PD can be made, approximately 70% of the dopaminergic brain cells have already been irreversibly lost. Early treatment intervention is likely to have the biggest impact on the course of the disease, however this is hampered by a lack of certainty about the diagnosis in the early ...

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The MND Register for England, Wales and Northern Ireland is the first comprehensive source of information collected by healthcare professionals about people with MND. We have received approval under section 251 of the NHS act 2006 to allow authorised healthcare professions to collect patient data from those people resident in England and Wales without seeking consent from each patient to help us understand more about MND. We also collect data about people living in Northern Ireland without seeking consent from each ...

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Calciphylaxis is a rare condition which results in small arteries becoming calcified. This results in painful ulceration of the skin which in turn can result in infection and further damage to tissue. It is associated with a high mortality rate (60–80%). Consequently research into this area is important. The aims of this study are to determine the following: 1) What is the natural history of the disease? 2) What risk factors are associated with development and progression of calciphylaxis? 3) Which treatments currently in ...

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It has recently been recognised that many gene sequence variations found during genetic testing may cause disease by altering gene splicing. Splicing is an essential part of the processing of genes before the protein is made. In particular, changes which had previously been though to be benign may not actually be so. The studies test the hypothesis that some of these gene sequence variants are pathogenic by using either direct RNA analysis or a minigene assay. The result would not otherwise ...

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This is a single centre, prospective cohort observational study involving patients undergoing computed tomography angiography (CTA), and patients attending outpatient clinics at the Oxford University Hospitals (OUH) NHS Trust. A total of 2500 participants will be consented to search for biomarkers in the blood that might be able to predict the risk of future cardiovascular events such as heart attack or stroke and to identify novel biomarkers which are able to predict vascular disease pathogenesis and the extent of pre--existing ...

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The aim of this study is to investigate the risk factors associated with persistent speech disorder in children born with cleft palate. It is known that half of all children born with a cleft palate have problems with their speech at age 5 and beyond. When children's speech disorder continues beyond age 5, it is known that the child is more likely to struggle at school and later in life. If we can identify children who are at risk of ...

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Our immune system normally protects us by attacking the bugs that cause infections. Very occasionally a person’s immune system can develop a fault and start to attack parts of the body instead. In autoimmune hepatitis a faulty immune system attacks the liver. This can damage the liver leading to liver failure and cirrhosis. Autoimmune hepatitis is a rare disease which affects around 10 thousand people in the UK. People who develop autoimmune hepatitis need treatment with medicines to reduce the ...

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Enroll-HD is a multi-centre, multi-national, prospective observational study of Huntington’s disease (HD) in a global population. It is an open-ended study which will include as many eligible participants as are willing, who will be asked to participate in as many annual study visits as possible. The goal of Enroll-HD is to build a large and rich database of clinical information and biospecimens. These will serve as a basis for future studies aimed at developing tools and biomarkers for progression and ...

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The Ependymoma Program is a comprehensive program to improve the accuracy of the primary diagnosis of ependymoma and explore different therapeutic strategies in children, adolescents and young adults accordingly. This program is open to all patients diagnosed with ependymoma below the age of 22 years. After surgery and central review of imaging and pathology, patients will be enrolled in one of 3 different studies according to the outcome of the initial surgical resection, their age or eligibility/suitability to receive ...

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