National Institute for Health Research, UK

2015

  • 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
  • Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM) (website)

2014

  • 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)
  • Molecular genetic analysis of frontal fibrosing alopecia and other rare lichenoid, scarring and alopecic disorders (website)

2013

  • Alpha 1 anti-trypsin deficiency assessment and programme for treatment (screening programme) (website)
  • Genotype-phenotype correlation in autosomal recessive congenital ichthyosis (website)
  • 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)

 

2012

  • 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)