Antisense Oligonucleotide Therapy for Neuromuscular Disease (website)
Building and dismantling polymicrobial pathogen communities in cystic fibrosis. (website)
Cellular and molecular insights into neurodegeneration mediated by the C9orf72 gene mutation (website)
Connecting Lung Structure and Function in Cystic Fibrosis Through Physiological Modelling, Image Analysis, and Uncertainty Quantification (website)
Developing an effective intervention for younger children (5-11 years) with Chronic fatigue syndrome or myalgic encephalomyelitis (CFS/ME)
Development of a novel repurposed drug treatment for the neurodegeneration and diabetes in Wolfram syndrome (website)
Development of novel tests to assess visual function in patients with inherited retinal degeneration.
EMPOWER: EMesis in Pregnancy – Ondansetron With mEtoclopRamide
Enteric nervous system progenitor cells from aganglionic gut for Hirschsprung’s therapies (website)
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes (website)
Evaluation of Candidate Tests for Pre-clinical Detection of Prion Disease in Blood.
Imaging for detection of osteomyelitis: a systematic review and meta-analysis
Inflammation in Cystic Fibrosis Lung Disease: Defining the Role of Calprotectin
Investigating neuronal RNA localisation and translational deficits as gain of function mechanisms in ALS. (website)
Mesothelioma and Radical Surgery 2: a multicentre randomised trial comparing (extended) pleurectomy decortication versus no (extended) pleurectomy decortication for patients with malignant pleural mesothelioma (MARS 2)
MICA: Delivering gene silencing therapy to the epidermis and ocular surface (website)
MICA: Development of gene therapy for the incurable inherited childhood epilepsy, Dravet Syndrome (website)
MICA: Signalling pathways to proteinuria – part II. Establishment of b3 integrin and TRPC6 as tractable renal disease targets (website)
MICA: To evaluate the role of the histamine four receptor (H4R) in the clearance of lung pathogens using the H4R antagonist UCB1344778 (website)
MICA: Treatment According to Response in Giant cEll arTeritis (TARGET) (website)
Monitoring for neovascular AMD Reactivation at Home: the MONARCH study
MS-STAT2: A phase 3 randomised, double blind, clinical trial investigating the effectiveness of repurposed simvastatin compared to placebo in secondary progressive multiple sclerosis, in slowing the progression of disability
Multicentre, open label, prospective, single arm study of the safety and impact of Eculizumab withdrawal in patients with atypical haemolytic uraemic syndrome
NeoCLEAR: Neonatal Champagne Lumbar punctures Every time – An RCT. A multicentre, randomised controlled 2×2 factorial trial to investigate techniques to increase lumbar puncture success
Novel and bespoke mouse models for dissecting neurodegenerative disease (website)
Olaratumab for treating advanced or metastatic soft tissue sarcoma [ID959]
Personalised management of atypical haemolytic uraemic syndrome (website)
Preventing death and long term institutional care by developing a newborn screening strategy to Identify Neonatal Diabetes
Promoting skin and soft tissue infection care and preventing AA-amyloidosis renal failure among people who inject drugs in the United Kingdom: A mixed methods multi-phase study.
Regorafenib for treating advanced, metastatic or unresectable gastro-intestinal stomal tumours (GIST) after failure of at least previous imatinib and sunitinib (ID1056)
The development of gene therapy for Niemann-Pick type C disease (website)
The Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments (website)
The Role of Membrane Attack Complex in Atypical Haemolytic Uraemic Syndrome (website)
Therapist guided, parent-assisted remote digital behavioural intervention for tics in children and adolescents with Tourette syndrome: an internal pilot study and single-blind randomised controlled trial (ORBIT)
Translational genomics- maximising potential for NHS patient care.
Treating to target in psoriatic arthritis: assessing real-world outcomes and optimising therapeutic strategy for individuals.
Understanding and Ameliorating Pathogenesis in FSHD (website)
Understanding Genetic Causes of Cerebral Palsy: A Patient-Centric Approach to Improve Diagnosis and Develop New Treatments
Understanding granule disorders of myeloid cells by unravelling the interactome and function of the Nbeal2 protein (website)
Understanding the lived experience and psychosocial needs of children and young people with Juvenile Dermatomyositis: a mixed methods study
Validation of neutrophil elastase as a target to improve muscle regeneration in Duchenne muscular dystrophy (website)
What dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
What interventions, which could be delivered at home by parents, are available to improve eating in young children with neurodisability and are suitable for investigation in pragmatic trials?
2016
Automated phenotyping to accurately infer functional variants in clinical genetics (website)
Cabozantinib and vandatinib for treating advanced or metastatic medullary thyroid cancer [ID56]
Cabozantinib for previously treated metastatic renal cell carcinoma [ID931]
Carfilzomib in combination with dexamethasone for treating multiple myeloma [ID934]
Characterisation of skeletal development and the use of anabolic agents in murine models of Duchenne muscular dystrophy (website)
Daclizumab for treating relapsing-remitting multiple sclerosis [ID827]
Daratumumab for treating relapsed and refractory multiple myeloma [ID933]
Deciphering alpha2-chimaerin signalling pathways in ocular motor development and Duane Retraction Syndrome (website)
Decoding Presymptomatic white matter changes in Huntington Disease (WIN-HD) (website)
DISC: Dupuytren’s Interventions Surgery vs. Collagenase. A pragmatic multi-centre randomised controlled non-inferiority, cost effectiveness trial comparing injections of collagenase into the cord to surgical correction in the treatment of moderate Dupuytren’s contracture in adult patients
Eliglustat for treating type 1 Gaucher’s disease [ID709]
Everolimus for the second-line treatment of metastatic renal cell carcinoma (review of TA219)(ID1015)
Genotype-phenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias (Genotype-phenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias) (website)
Glycosphingolipid recycling in health and disease: the GALC-SapA lipid processing complex (website)
Ibrutinib for treating relapsed or refractory mantle cell lymphoma [ID753]
Identifying effectors of mutant C9Orf72 ALS/FTD to combat neurodegeneration (website)
Improving diagnostic and care pathways in progressive supranuclear palsy and corticobasal degeneration
Investigating the fundamental mechanisms underlying the phenotypic diversity observed in RYR1-associated Malignant Hyperthermia. (website)
Investigation of the mechanism by which huntingtin fragments are produced and their pathogenic relevance to Huntington’s disease (website)
Ixazomib citrate in combination with lenalidomide and dexamethasone for relapsed or refractory multiple myeloma [ID807]
JPND European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (website)
Liver transplantation as treatment for patients with hepatocellular carcinoma; a study using existing electronic data
MICA: A UK-wide networking partnership to facilitate collaborative research in the idiopathic inflammatory myopathies (website)
MICA: The role of utrophin in DMD and its therapeutic potential (website)
Modelling peripheral axonal pathology of ALS in vitro – Assembly of optogenetic neuromuscular circuits from pluripotent stem cells (website)
Mouse models of forebrain defects caused by Pax6 haploinsufficiency (website)
Neural network alterations in Rett Syndrome (website)
NIHR BioResource – Rare Diseases(Enhanced Phenotyping using Next Generation Sequencing Techniques (NGST)) (website)
Obeticholic acid for treating primary biliary cirrhosis [ID785]
Pomalidomide for treating relapsed and refractory multiple myeloma previously treated with both lenalidomide and bortezomib (Review of 338)[ID985]
Randomised trial of Teriparatide followed by Zoledronic acid versus standard care to prevent fractures in adults with Osteogenesis Imperfecta
Rare diseases of the bone, joint and vessels Study – RUDY (website)
Translating genomic signatures in kidney cancer into patient care
Treating mesothelioma with Intra-pleural Lipoteichoic acid (the TILT Trial): A feasibility study using the ‘Trial within a Cohort’ methodology
Uncovering function and mode of activation of the central Fanconi Anemia FANCD2/FANCI DNA repair protein complex, a potential cancer drug target. (website)
Understanding the role of DNA repair in Huntington’s Disease pathogenesis: towards new therapeutic targets (website)
Using re-randomisation to increase the recruitment rate in clinical trials
2015
100K genome project: Prescreening and recruitment of Rare Disease patients for the 100,000 Genomes Project (website)
Nottingham Molecular Pathology Node (NMPN) for Integrated Multi-platform Biomarker Research and Knowledge Transfer (website)
PheneBank: automatic extraction and validation of a database of human phenotype-disease associations in the scientific literature (website)
PhenoDM1 – Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalized medicine and assist in the planning, design and recruitment of clinical trials
Phenotyping and Experimental Medicine Centre for naturally occurring Gene Knock-Outs in Humans (website)
Population based genotype-phenotype correlation to stratify incident cases of patients with MND in Scotland from 2015-2017
Pre-clinical development of a novel oral therapy for hyperinsulinemic hypoglycaemia (website)
Secondary Osteoporosis and Its Therapy in Duchenne Muscular Dystrophy – ScOT-DMD
Structural CNS changes, neuropsychological impairment and sleep disturbance in myotonic dystrophy
TARGETING PARKIN & MITOCHONDRIAL DYNAMICS IN HUNTINGTON’S DISEASE (website)
TGF-β superfamily signalling in development and cancer
The DNA damage response
The United Kingdom Primary Sclerosing Cholangitis Rare Disease Consortium – TRC Rare Diseases (website)
Towards improvement in care delivery in Huntington’s Disease
Tracking progression in Friedreich ataxia (FRDA) to establish biomarkers for clinical trials (website)
UK Infrastructure for Large-scale Clinical Genomics Research (website)
UK-PSC The United Kingdom Primary Sclerosing Cholangitis Rare Disease Consortium (website)
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM) (website)
2014
14CM03-NIHR BioResource – Rare Diseases [GeL study (Genomics England), PID and SPEED new recruits] (website)
14HI04-Rare diseases of the bone, joint and vessels Study (RUDY) (website)
Chemical reversion of nuclear shape and other defects of Hutchinson Gilford Progeria Syndrome and Lamin A/C depleted cells (website)
Deciphering alpha2-chimaerin signalling pathways in ocular motor development and Duane Retraction Syndrome (website)
Deep phenotyping the skeletal muscle and peripheral nerve channelopathies
Developing a decision aid to support informed family planning decisons for parents of children with a rare genetic condition (Decigen) (website)
Disease mechanisms and therapy for inherited disorders of the neuromuscular synapse. (website)
Exome sequencing in motor neuron disease: bioinformatic analyses and biological validation of novel variants (website)
Genomics England Pilot – Rare Disease Programme (website)
HSN1 secondary to SPTLC1/2 mutations: Pathogenesis and treatment (website)
Improving function in Huntington’s disease through neurofeedback: using real-time fMRI to enhance cortical plasticity in early stages of the disease (website)
In depth phenotyping of sputum obtained from Cystic Fibrosis patients with chronic Pseudomonas aeruginosa lung infection (website)
In vitro modelling of biliary development and diseases (website)
Inclusion Body Myositis (IBM) – deep phenotyping to improve diagnostics and treatment (website)
Investigating a neuronal subcellular transcriptome by the novel technique of RNA TU-tagging, in a normal and ALS-related mouse model. (website)
Investigating phosphatidylserine metabolism in Lenz-Majewski syndrome (website)
Investigation of novel biomarkers and treatment strategies in steroid-resistant nephrotic syndrome and lupus nephritis
MICA: Clinical development of erythrocyte encapsulated thymidine phosphorylase – a therapy for mitochondrial neurogastrointestinal encephalomyopathy (website)
MICA: Medical Bioinformatics: Data-Driven Discovery for Personalised Medicine (website)
Molecular and cellular characterisation of an important new human DNA repair disorder (website)
Molecular genetic analysis of frontal fibrosing alopecia and other rare lichenoid, scarring and alopecic disorders (website)
National Institute for Health Research BioResource – Rare DiseasesAcronym: NIHR BioResource (SPEED) (website)
National Institute for Health Research BioResource Rare Diseases (website)
New humanised mouse models for dissecting the pathobiology of disease, using FUS-ALS as a paradigm (website)
Rare diseases of the bone, joint and vessels Study (RUDY) (website)
Rare diseases of the bone, joint and vessels study (RUDY) (website)
Structure and function of ZMPSTE24, an integral membrane protease mutated in progeria (website)
Targeting ERK and mTOR for the treatment of fragile X syndrome (website)
Targeting the innate immune system in Huntington’s disease (website)
The environmental and spatio-temporal epidemiology and environmental toxicology of rare autoimmune liver disease (website)
Xeroderma pigmentosum: a model to study molecular, cellular and clinical consequences of specific defects in the nucleotide excision repair pathway (website)
2013
Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme) (website)
Amyotrophic Lateral Sclerosis and the DNA Damage Response (website)
Antioxidant defence in adrenocortical cells (website)
BRIDGE – National Institute for Health Research BioResource – Rare Diseases (website)
Characterisation of a novel cell model for Huntington’s disease: insights into pathogenesis (website)
Determining the Role of Canonical Notch Signalling in the Regulation of the Glucocorticoid Receptor in Steroid Resistant Nephrotic Syndrome (website)
Developing gene therapy to treat blindness caused by Stargardt Disease (website)
Developing The Oxford Study for Biomarkers in Motor Neuron Disease (BioMOx): Capturing pre-symptomatic events and advancing clinical translation (website)
Dysregulation of tissue-specific bone morphogenetic protein signaling initiates and promotes colorectal carcinogenesis (website)
E1:RUDY: Prospective cohorts study of rare diseases of the bone, joints and vessels (website)
Environmental Factors in the Aetiology of Autoimmune Liver Disease (E-AILD)
Gene Therapy for Tay-Sachs and Sandhoff diseases (website)
Genetic and Acquired Complement Abnormalities in Idiopathic Membranoproliferative Glomerulonephritis (website)
Genotype-phenotype correlation in autosomal recessive congenital ichthyosis (website)
Investigating the mechanisms of axonal degeneration in amyotrophic lateral sclerosis using Drosophila and mouse transgenics (website)
Mechanisms underlying the development of pulmonary arterial hypertension (website)
Metabolomics in Hypertrophic Cardiomyopathy and other myocardial diseases
National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension (website)
Structural studies of proteins involved in neurodegenerative and muscular diseases 2 (website)
Sub-phenotyping in juvenile dermatomyositis (JDM), a rare and serious autoimmune childhood disorder, within the UK JDM Cohort and Biomarker Study: from phenotype to stratified treatments
The Cambridge BioResource: A framework to recruit volunteers and patients for studies investigating the correlations between alleles of common gene variants and their function and expression and the BioResource for Rare Diseases: A Framework to help in the discovery of new genes that cause rare disease. (website)
The pathophysiological role of TDP43 in amyotrophic lateral sclerosis due to C9orf72 mutations (website)
The regulation of Wilms’ tumour 1 by phospholipid (website)
The role of Miro and PKC signalling in axonal transport defects in amyotrophic lateral sclerosis. (website)
The role of OCRL1 in endocytic membrane traffic (website)
2012
Characterization and impact of novel regulators of mitochondrial DNA integrity on tumourigenesis (website)
Clinical, genetic and molecular study of FIPA (Familial Isolated Pituitary Adenoma) patients
RaDaR: National Registry of Rare Kidney Diseases (website)
The BRC Allergene Study: Discovery of Rare Genetic Variants of Allergic Diseases Using a Deep Sequencing Approach in Twins (Skin,Food & Respiratory Allergy Study in Twins) (website)