Perrault syndrome (PS) is a very rare genetic condition which displays symptoms of deafness and/ or ovarian problems. Other features such as peripheral neuropathy and mild mental retardation have also been reported. We want to see if we can identify any further genes that may play a role in PS. This may help to confirm a diagnosis for individuals showing some features of the syndrome allowing them to access appropriate genetic counselling and help to identify the risk for ...

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This research project will study the genetic and cellular basis of sporadic and familial myeloid disorders. Myeloid disorders are haematological (blood related) medical conditions that can have a significant negative impact upon patients in terms of both quality and length of life. Research is required to enhance our understanding of these conditions so that we can better determine how these types of disorder may develop, thereby improving diagnoses and treatment. Professor Mead’s research team at the University of Oxford is ...

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SDMregistries

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Prostate cancer is now the most common cancer in men in the Western world In the United Kingdom (UK), there were over 52,000 new cases diagnosed in 2016-2018 and a lifetime risk of 1 in 8. Prostate cancer (PrCa) can run in some families and research studies have identified several genetic changes in Caucasian populations that are thought to increase the risk of developing prostate cancer. Other studies have shown that men from certain ethnic groups also have a higher ...

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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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