National Institute for Health Research, UK


  • Clinical and laboratory based biomarker development to monitor disease progression and response to treatment in Wolfram Syndrome
  • 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
  • Tracking progression in Friedreich ataxia (FRDA) to establish biomarkers for clinical trials (website)
  • Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM) (website)


  • Deep phenotyping the skeletal muscle and peripheral nerve channelopathies
  • In depth phenotyping of sputum obtained from Cystic Fibrosis patients with chronic Pseudomonas aeruginosa lung infection (website)
  • Inclusion Body Myositis (IBM) – deep phenotyping to improve diagnostics and treatment (website)
  • Investigation of novel biomarkers and treatment strategies in steroid-resistant nephrotic syndrome and lupus nephritis
  • Molecular genetic analysis of frontal fibrosing alopecia and other rare lichenoid, scarring and alopecic disorders (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


  • Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme) (website)
  • Environmental Factors in the Aetiology of Autoimmune Liver Disease (E-AILD)
  • Genotype-phenotype correlation in autosomal recessive congenital ichthyosis (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)
  • 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


  • Clinical, genetic and molecular study of FIPA (Familial Isolated Pituitary Adenoma) patients
  • 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)