National Institute for Health Research, UK

2018

  • An integrated genetic and proteomic approach to understanding cardiovascular disease aetiology (website)
  • Beyond the neuromuscular junction: dysfunction of spinal synaptic targets of motoneurons in Amyotrophic Lateral Sclerosis (website)
  • Development of a cell-based bioassay to accurately measure variant Creutzfeldt-Jakob disease prions in human tissues and biofluids
  • How CTIP2 deficiency drives medium spiny neuron degeneration and dysfunction: implications in Huntington’s disease pathogenesis (website)
  • Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research (website)
  • IMPC – Exploration of the potential of C7 blockade as a target for immune therapy in complement mediated kidney disease (website)
  • MICA: An iPSC based screen for candidate pain modulating compounds
  • MICA: Randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in patients with Mitochondrial Myopathy (AIMM)
  • Role of regulatory elements in the genetic determination of VWF level in Von Willebrand disease and healthy individuals (website)
  • Safety and Efficacy of Prednisolone in Adrenal Insufficiency Disease (PRED-AID).
  • Who will benefit from bariatric surgery for diabetes? Using genetic markers and measurement of fat distribution to predict remission of diabetes

2017

  • Accuracy of high-speed video microscopy analysis to diagnose primary ciliary dyskinesia
  • Advanced peptide-oligonucleotide therapy for Myotonic Dystrophy Type 1 (website)
  • Airway Intervention Registry (AIR) extension – Recurrent Respiratory Papillomatosis
  • 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]
  • Pathological mechanisms underlying Progressive Myoclonus Epilepsy (website)
  • 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)
  • The Wales Genomic Medicine Centre (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)
  • Diagnosing childhood psoriasis: developing diagnostic criteria
  • 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)
  • Scottish Genomes Partnership (website)
  • Sorafenib and lenvatinib for treating differentiated thyroid cancer after radioactive iodine [ID1059]
  • Structural mechanisms of regulation and assembly in the nephronophthisis INVS-NPHP3-NEK8-ANKS6 module (website)
  • Tackling autophagy and apoptosis for the potential therapy of Huntington’s Disease (website)
  • The evaluation of the clinical and cost-effectiveness of everolimus, nivolumab, axitinib, sorafenib and sunitinib in renal cell carcinoma.
  • The Northern Ireland Genomic Medicine Centre (website)
  • The Pathogenesis of Spinal and Bulbar Muscular Atrophy (website)
  • The Scottish Genomes Partnership (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)
  • 100k Genomes Project – Rare Disease (website)
  • 13DN27-Neuromuscular Rare Disease Translational Research in patients with Duchenne Muscular Dystrophy (website)
  • beta-catenin Ser45 in development and disease (website)
  • Cardiovascular Genetics and Genomics (website)
  • CHARACTERISING KYNURENINE 3-MONOOXYGENASE (KMO) AS A THERAPEUTIC TARGET FOR HUNTINGTON’S DISEASE (website)
  • Clinical and laboratory based biomarker development to monitor disease progression and response to treatment in Wolfram Syndrome
  • Defining a fundamental role for histone methylation in preventing DNA damage-induced replication catastrophe (website)
  • Developing diagnostic methods for clinical genetics – phenotyping from faces in photos. (website)
  • Developing rhodopsin gene therapy to treat dominant retinitis pigmentosa (website)
  • Exosome-based Gene Therapy for Huntington’s Disease (website)
  • Genetic and Genomic Dissection of Rare Lung Cancers (website)
  • Interaction of Rab8 with OCRL1: Synaptic growth function in Frontotemporal Dementia and the Neurodevelopmental Disorder Lowe Syndrome (website)
  • Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis (website)
  • Investigating mechanistic causes of C9ORF72-related amyotrophic lateral sclerosis (ALS). (website)
  • Investigation into the role of ceramide in the pathogenesis of cystic fibrosis lung disease (website)
  • Kindlin and EGFR control convergent pathways to regulate epithelial cell function (website)
  • Leveraging rare mosaic skin disease to inform pathogenic mutation discovery in psoriasis (website)
  • Liver Multiscan to phenotypic evaluation of autoimmune liver disease -TRC Rare Diseases (website)
  • Lynch syndrome-associated endometrial cancer: prevention, screening and prognosis (website)
  • MICA: HD-CSF: Studying cerebrospinal fluid to understand key CNS pathobiological targets in Huntington’s disease (website)
  • Models, modifiers and novel treatments of Joubert syndrome (website)
  • National Institute for Health Research BioResource – Rare Diseases (website)
  • Neuromuscular Rare Disease Translational Research in patients with Duchenne Muscular Dystrophy (website)
  • Newcastle University Single Cell Functional Genomics Unit (NUSCU) (website)
  • NIHR BioResource – Rare Diseases(Project 13: Neuropathic pain disorders) (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)
  • BRIDGE: NIHR BioResource – Rare Diseases (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)
  • NIHR BioResource – Rare Diseases (website)
  • NIHR BioResource – Rare Diseases(Project 11: Genomics England Ltd (GEL) Pilot Study) (website)
  • NIHR BioResource for Rare Disease (HCM) (website)
  • NIHR Bioresource rare disease: NIHR BioResource – Rare Diseases (NIHRBR-RD) (website)
  • NIHR Rare Disease TRC Deep phenotyping of antitrypsin deficiency (website)
  • NIHR Rare Disease TRC Deep phenotyping of antitrypsin deficiency (website)
  • Phenotyping of rare genetic overgrowth disorders (POD) study
  • Pregnancy Adaptations In Renal disease Study (PAIRS)
  • Prognostic modelling in primary biliary cirrhosis using longitudinal clinical data derived from the UK-PBC Research Cohort
  • Rare Disease TRC bioresource project (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)
  • NIHR BioResource – Rare Disease: EDS – Ehlers-Danlos Syndrome (website)
  • NIHR BioResource – Rare Disease: MPMT – Multiple primary malignant tumours (website)
  • NIHR BioResource – Rare Disease: PMG – Primary Membranoproliferative Glomerulonephritis (website)
  • NIHR BioResource – Rare Disease: SRNS – Steroid Resistant Nephrotic Syndrome (website)
  • NIHR Bioresource -Rare Diseases (website)
  • Predictive measures to stratify clinical outcomes in children and adults with Gaucher disease and responses to specific therapies (website)
  • Pulsed Glucocorticoid Replacement Therapy (website)
  • Signalling pathways to Proteinuria (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
  • Neurodegeneration (website)
  • NIHR BioResource – Rare Disease: BPD – Bleeding and Platelet Diseases (website)
  • NIHR BioResource – Rare Disease: PAH – Pulmonary Arterial Hypertension (website)
  • NIHR BioResource – Rare Disease: PID – Primary Immune Disorders (website)
  • NIHR BioResource – Rare Disease: SPEED – Specialist Pathology: Evaluating Exomes in Diagnostics (website)
  • RNA metabolism in pathology of AOA2/ALS4 neurodegenerative disorders (website)
  • SMN Replacement Therapy for Spinal Muscular Atrophy: Clinical Development (website)
  • The role and regulation of Hepatocyte Nuclear Factor-1 Beta in man (website)
  • What disease mechanisms contribute to multisystem tissue involvement in dominant optic atrophy due to OPA1 mutations? (website)

2011

  • Antisense nucleic acid splice correction therapy for Duchenne muscular dystrophy and related disorders (website)
  • Cancer, Development and the Multifunctional Wilms Tumour Gene, WT1 (website)
  • Evaluation of recombinant complement factor H as therapy for orphan renal diseases Dense Deposit Disease & atypical HUS. (website)
  • Genetic basis of limb and gut development and dysmorphogenesis (website)
  • MAPK-signalling in development and disease (website)
  • The International DSD Network (I-DSD) (website)

2010

  • 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)