Around 3,300 people are diagnosed with soft tissue sarcoma (STS) each year in the UK, and a significant proportion of STS diagnoses are in people aged under 30 years. STS can arise from various tissue types and is comprised of over 50 tumour types. Although STS is treated with a combination of surgery, radiotherapy and chemotherapy, the prognosis is relatively poor with a five-year survival rate of 54%. There is a an unmet need for further treatment modalities in STS. ...

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Sudden unexpected death in epilepsy (SUDEP) is a tragic complication of uncontrolled epilepsy, occurring when no other cause of death can be found. Every year between 5 and 9 in 1000 people suffering from epilepsy die from SUDEP; over 40 years up to 12% of patients with active uncontrolled epilepsy may die. In 2008, the NIH National Institute for Neurological Disorders and Stroke (NINDS) convened a workshop to assess current SUDEP knowledge and to make recommendations. The group concluded ...

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PPMI2.0 is a broad program, expanding the goals of the original PPMI study that was started in 2010 and has recruited 424 patients with Parkinson's disease (PD), 196 healthy controls, 600 patients with genetic mutations linked to PD, and 65 prodromal participants. The PPMI study has made substantial progresses in PD research with more than 170 publications and 2 million downloads of PPMI data for research purposes worldwide. However, there is a consensus that a new PPMI cohort is ...

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Up to 10% of strokes occur in patients aged under 55 years (“young stroke”) causing a large numbers of years lost to ill-health and premature death. More worryingly, the number of new cases of young stroke (“incidence”) appears to be increasing in recent decades in high-income countries.Reasons for this apparent increase are unclear. One explanation is that the observed increase in new cases coincided with the changes in the burden of treatable vascular risk factors among young adults, such as high ...

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Hip fracture is one of the biggest challenges facing patients and healthcare systems. Worldwide there are 1.3 million hip fractures with more than 70,000 hip fractures in the UK every year. These figures are projected to rise to more than 6 million by 2050 worldwide.People suffering hip fracture have a 30-day mortality of 7%, a 1-year mortality of 25% and experience a permanent reduction in their health-related quality-of-life similar to that of a patient with Parkinson’s disease or multiple sclerosis. ...

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Coronavirus disease or COVID-19 is a respiratory viral illness which has affected more than a million people globally. Although the illness mostly affects the lungs, some people can develop damage to other organs. The symptoms of this disease can continue for months after the infection. The purpose of this study is to understand the effects of COVID-19 on the health of the lungs, heart, brain, liver and kidney and assess its effects on the quality of life, mental health and ...

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Background: In early 2020, as this protocol was being developed, there were no approved treatments for COVID-19, a disease induced by the novel coronavirus SARS-CoV-2 that emerged in China in late 2019. A range of potential treatments have been suggested for COVID-19 but nobody knows if any of them will turn out to be more effective in helping people recover than the usual standard of hospital care which all patients will receive. The RECOVERY Trial will begin by testing some of ...

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Background: Modifications to existing surgical procedures can have the potential to improve clinical practice and patient outcomes. Modifications commonly occur as part of everyday routine practice. Despite this, little is known about how modifications are initially introduced into practice or what information is communicated to patients about evolving surgical procedures. While it is common for surgeons to make modifications to procedures, it is much less common for them to publish results. When results are published, they tend to be reported ...

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Myeloma is a cancer of the bone marrow cells. Combining stem cell transplantation (SCT) with new drug treatments has shown to improve outcomes in myeloma patients. Some patients have been found to have genetic abnormalities in the myeloma cells and these ‘high-risk’ patients do not respond well to standard treatment. Some patients without these genetic abnormalities are also known to not respond as well to initial therapy. This study will investigate different treatment combinations for these two groups of patients. ...

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The overgrowth intellectual disability (OGID) syndromes are a family of genetic conditions characterised by increased growth and an intellectual disability. In the last decade many different OGID syndrome genes have been identified. However, we do not understand the full range of OGID clinical associations, the long-term OGID syndrome complications and the cause of the approximately 50% of affected individuals without a genetic diagnosis. We aim to identify new genetic causes of OGID through: a) Interrogating next generation sequencing (NGS) data, obtained ...

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