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. ...

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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 ...

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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 ...

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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. ...

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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 ...

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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 ...

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Infectious disease is the single biggest cause of death worldwide. New infectious agents, such as the SARS, MERS and other novel coronavirus, novel influenza viruses, viruses causing viral haemorrhagic fever (e.g. Ebola), and viruses that affect the central nervous system (CNS) such as TBEV require investigation to understand pathogen biology and pathogenesis in the host. Even for known infections, resistance to antimicrobial therapies is widespread, and treatments to control potentially deleterious host responses are lacking. In order to develop a ...

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The UK Adult ITP Registry aims to collect clinical data (co-morbid conditions, ITP-specific treatments, laboratory results, and bleeding events) and biological samples (whole blood [15 mL, ~EDTA] or saliva [Oragene saliva kit])on adult patients with primary immune thrombocytopenia (ITP) in an effort to investigate outstanding questions in disease progression, treatment effectiveness, and co-morbid burden. An overview of our study protocol may be found in the document “UKITP Study Protocol 2.1” on the Adult Registry page of our study website, www.ukitpregistry.com

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Coronary artery disease (reduced blood supply to the heart) and non-ischaemic cardiomyopathy (structural changes of the heart) are major causes of mortality and morbidity worldwide. Although magnetic resonance imaging of the heart (CMR) plays a vital role in the assessment of these disease; current CMR machines in clinical practice and research (1.5 and 3-Tesla) are far from optimal. This important issue can potentially be addressed by CMR at higher magnetic fields (7-Tesla), which has been scarcely investigated. This study will ...

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Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterised by hypertrophy (thickening) of the heart muscle. It affects 1 in 500 individuals and is the commonest cause of sudden cardiac death in children and young adults. While the majority of patients remain asymptomatic, many develop complications, such as sudden death and heart failure. Reliable methods to distinguish who will remain well and who will be devastated by disease complications are lacking. Fibre disarray, a hallmark of HCM, has long been assumed ...

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