Neurofibromatosis Type 1(NF1) is a common genetic condition affecting 1 in 2500 people. Having NF1 increases the risk of conditions such as Autism Spectrum Disorders (ASD) and Attention Deficit Hyperactivity Disorder(ADHD). Early identification of ASD and ADHD is crucial in order to improve outcome. The aim of this study is to understand the cognitive and brain development in infants with NF1. At two to five testing points, we will use non-invasive methods such as electroencephalography (EEG) , Near Infra Red Spectroscopy ...

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We will examine the natural history of a condition called temporal arteritis (also called Giant Cell Arteritis - GCA) over 10 years in order to identify risk factors associated with more severe disease. GCA is a condition involving inflammation of blood vessels (we call this “vasculitis”). It usually affects arteries around the head area. It causes narrowing and sometimes blockage of some of these vessels. It can cause severe headache and may cause blindness. Treatment consists of high doses of ...

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Rare diseases have a significant impact on quality of life and are difficult to diagnose because of their variety and rarity. Each has a differing impact on both the patient and the NHS. There is an urgent need to improve the care of these patients by developing novel diagnostic tests and therapies. More detailed phenotyping of groups of patients with rare diseases would lead to improved predictive, diagnostic and therapeutic measures. This application is to develop a national ...

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Most medical conditions can be rapidly and accurately quantified. For example we can accurately measure the airflow rate in the lungs in asthma or the degree of narrowing of arteries in heart disease. However, we still measure many brain diseases using a clinical rating scale, a system of points assigned by an observer based on their impression of the person's condition. Such scales are subjective, i.e. two different people assessing the same patient may not score the patient ...

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Patients with antiphospholipid antibodies (aPL) may have an increased risk of having blood clots and women with aPL may have problems during pregnancy. In the presence of aPL blood becomes more ‘sticky’ than usual. aPL occur in about 1% of the population. Knowing that there are 800,000 births a year in the United Kingdom, this means 8,000 pregnancies affected by aPL every year. Women with aPL are more likely to have pregnancy loss and/or small babies and/or pre-eclampsia (high blood ...

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Currently,respiratory disorders are diagnosed,assessed or monitored using lung function measurements provided by forced spirometry. Spirometric measures have some limitations including: being effort- and technique-dependent and not being sensitive to early changes in the lung,meaning their utility in diagnosis early lung disease or monitoring disease progression or treatment effects is limited. Our research team has developed a new method for measuring lung function which involves assessing inhomogeneity (unevenness) in gas-exchange in the lung. This is based on two advances: a gas ...

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Childhood cardiomyopathies are associated with an increased risk of arrhythmias,heart failure and sudden death and it remains challenging to identify those at highest risk Principle research question: Can we identify patients with childhood onset dilated cardiomyopathy at risk of adverse events? Methodology: This is an international multicentre study. Collaborating centres will identify eligible patients and collect serial routine anonymised,retrospective clinical and imaging data as assessed at the time of first evaluation,follow up and last evaluation. Anonymised data will be entered into a secure ...

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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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