Type 1 diabetes (T1D) is an immune-mediated disease in which insulin-producing betacells are completely or near completely destroyed, resulting in life-long dependence on exogenous insulin. It is a chronic and potentially disabling disease that represents a major public health and clinical concern. The number of patients diagnosed with T1D each year is increasing and is approaching an epidemic level in some countries that track this information The POInT study examines whether the development of T1D can be prevented in children with an increased risk ...

GO TO STUDY

Ultrasound is a mandatory tool for safely monitoring the growth and development of fetuses during pregnancy. Although pregnancy ultrasound is routinely used, it has a major disadvantage, namely a high level of operator dependence: non-experts (or infrequent) users of the technology are often not able to acquire and interpret diagnostic ultrasound images consistently and reliably. Consequently, there is a significant requirement for training, and lack of adequately trained staff is the most commonly reported barrier to the use of ultrasound ...

GO TO STUDY

Sleep disorders are increasingly recognised as an important feature of various neurodegenerative diseases. They contribute to reduced quality of life and are associated with other poor outcome measures. Furthermore, it is now clear that sleep disorders can precede the onset of neurodegenerative disease and can therefore act as a marker of prodromal disease. The most important example of this relates to PD. Up to half of PD patients are thought to suffer from RBD, and many of these people develop ...

GO TO STUDY

The primary objective is to identify blood and/or bone marrow samples from adults with CHIP and evaluate the mechanisms by which mutations confer a competitive advantage to blood stem and progenitor cells. This includes determining where mutations occur in the cellular hierarchy of blood production,assessing their functional consequences,and analysing their effects on gene expression through RNA-sequencing and epigenetic analysis. Secondary objectives include measuring cell division and differentiation rates in normal human haematopoiesis,evaluating how these dynamics change during aging,and examining correlations between ...

GO TO STUDY

Millions of women suffer from the consequences of endometriosis and uterine fibroids. These include severe pain, abnormal uterine bleeding, infertility and miscarriages. Current treatment is associated with significant side effects and risks. To better understand the underlying mechanisms of these conditions, this prospective study will use biological samples such as blood, saliva, urine, peritoneal fluid and endometrial or fibroid tissue in state-of-the-art biomedical assays together with detailed clinical and intraoperative data from participants. Women of reproductive age (18 years until ...

GO TO STUDY

Patients receiving solid organ transplants must be maintained on drugs that suppress the immune system in order to prevent the immune system from rejecting the transplant. These medicines are highly efficacious, with one-year kidney transplant survival in the UK being > 95%. However long term outcomes are significantly limited by the serious and life-threatening side-effects of immunosuppressive drugs, which include enhanced rates of infection, malignancy and cardiovascular and metabolic disease such as heart attacks and diabetes. Long term maintenance on ...

GO TO STUDY

Psychosis and schizophrenia are caused by factors associated with excess dopamine and abnormally low N-methyl D-aspartate receptor (NMDAR) functioning. There is increasing evidence for the role of inflammation in these disorders. We propose that one possible cause of psychosis and schizophrenia is the presence of antibodies in the blood that bind to the neuronal membrane in the brain. Since discovery of antibodies that bind to the NMDAR (NMDAR-ab) that cause encephalitis, we have discovered NMDAR-ab or voltage-gated potassium channel complex ...

GO TO STUDY

Endoscopic submucosal dissection (ESD) is a technique used to treat early cancer within the gastrointestinal tract. This technique was first developed in Japan though is now being practised in the West. An endoscopic knife is used to gently peel away the cancer in its entirety. This has led to excellent outcomes. Since the growth is removed in one piece there is a higher chance of achieving a complete cure and preventing recurrence. A difficulty, however, with the technique is the ...

GO TO STUDY

Genetic conditions sometimes appear “out of the blue” in the child of a healthy couple. Genetic testing shows an alteration in the child’s DNA, which is not - on routine investigation - present in the samples (usually blood) taken from either parent. This situation, in which a misprint has arisen at some stage during the copying of the DNA, is termed a “de novo mutation” (DNM). Although the DNM may appear to be a one-off occurrence, we know that the same ...

GO TO STUDY

Mesothelioma is an aggressive cancer that affects the outside lining of the lung (the pleura). It is caused by previous asbestos exposure, often more than 40 years previously. Mesothelioma diagnoses have increased steadily over the past decade, in the UK and worldwide, and are predicted to continue rising over the next decade. The average life-expectancy of a person diagnosed with mesothelioma is less than a year. This is because it is very difficult to treat, with only ...

GO TO STUDY