GENPROS aims to analyse the outcomes of patients with rare gene mutations in the cancer predisposition genes, BRCA1, BRCA2, HOXB13, and Lynch Syndrome, after a diagnosis of and treatment for prostate cancer (PCa). The study includes a cohort of gene mutation carriers with PCa matched with a control group of men with PCa who are known not to carry a mutation in the same gene. Clinical data regarding treatment and patient outcome will be collected retrospectively and prospectively. Archived tumour ...

GO TO STUDY

Rupture of the anterior cruciate ligament (ACL) and/or meniscal injury is a common and serious knee injury, frequently followed by pain, swelling and episodes of instability. Common problems include recurrent knee instability that can be associated with further cartilage damage causing intermittent swelling or a locking sensation. Furthermore, the injury can lead to poor reported quality of life, decreased activity levels and is associated with increased risk of common arthritis of the knee irrespective of treatment. The management of ACL injuries includes ...

GO TO STUDY

Adverse drug reactions (ADR's) are a common cause of drug-related morbidity and may account for about 6.5% of all hospital admissions. A meta-analysis of studies performed in the USA has shown that ADRs may be the fourth commonest cause of death. ADRs are also a significant impediment to drug development, and a significant cause of drug withdrawal. The purpose of this research is to (a) identify patients with different types of adverse drug reactions; (b) using DNA obtained from blood ...

GO TO STUDY

RAIDS is an depth investigation study which provides a unique source of data on road accident causation and consequences, contributing vital evidence to underpin the development and implementation of countermeasures to reduce risk and mitigate injuries. Two main methods of data collection will be employed, on-scene and retrospective examinations. In broad terms, the main objective of the on-scene investigations is to develop information on vehicle primary safety, advanced safety features such as ESC (Electronic Stability Control), the protection offered ...

GO TO STUDY

RaDaR provides an infrastructure to capture both generic and disease-specific clinical information and to collate longitudinal information. Patients and clinicians can view information about the conditions covered by RaDaR on RareRenal.org, which links closely with RaDaR. RaDaR was set up following an initiative of the Medical Research Council (2008) to develop cohorts of wellcategorized patients for translational research. RaDaR is a development of the Renal Association and is operated by the UK Renal Registry (UKRR). The governance structure is described below. ...

GO TO STUDY

The NIHR BioResource Rare Diseases (NIHRBRRD) aims to recruit participants with rare diseases and their relatives, to establish a comprehensive repository of consented participants. The participants are being recruited based on their rare disease being the focus of one of the NIHR priority themes, namely: Infection & Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease. The NIHR BioResource Rare Diseases will isolate, analyse, collect and store DNA, plasma, sera samples on participants with rare diseases and their relatives. The ...

GO TO STUDY

Endocrine and metabolic disorders are common and may be caused by hormone excess, which may be associated with endocrine tumours, or hormone deficiency, that may be due to a congenital abnormality or autoimmune destruction of the gland. These disorders usually occur as non-familial (i.e. sporadic) disorders but they may also occur as part of complex familial syndromic diseases, which may be inherited as autosomal or X-linked traits. The biology of these endocrine and metabolic disorders is poorly understood, but the occurrence ...

GO TO STUDY

The MitoCohort comprises symptomatic adults and children, in whom a mitochondrial disease phenotype and biochemical deficiency and/or genetic mutation have been confirmed. Asymptomatic individuals who have requested genotyping and proved positive are also included. Genotyping is important because the same mitochondrial phenotype may be caused by several distinct mutations in either the mitochondrial or nuclear genomes. Phenotypes are characterised in all individuals (symptomatic and asymptomatic) on the basis of clinical history, clinical examinations and detailed investigations. ...

GO TO STUDY

This study has two main aims. By using whole genome and whole exome sequencing techniques not currently available in clinical practice, it seeks to 1. look for the genetic causes of inherited disease in particular individuals and families 2. develop an evidence base for the effectiveness and cost of WGS/WES analyses for diagnosis, compared to current clinical techniques. The study is thus a series of individual studies of patients and their familial disease, each of which has in common the use of new ...

GO TO STUDY

Cleft lip and/or palate is one of the commonest congenital conditions in the United Kingdom (UK) with an estimated prevalence of 1 in 700 live births. The evidence to support preventive interventions and effective treatments is limited. Being born with a cleft is now recognised as a major cause of ill health. There is also new evidence emerging which suggests these children need increased educational support and are more likely to have a shorter lifespan, with increased risk for all major ...

GO TO STUDY