National Institute for Health Research BioResource - Rare Diseases

 Non-Specific Genetics / Posted 1 year ago

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

  • Inclusion Criteria : The principal inclusion criteria are those that are stipulated by the purpose of the study, i.e. participants with a rare disease (incidence of less than 5 in 10,000 individuals) where no genetic cause for their rare disease has as yet been identified. Rare diseases fitting into themes of Infection and Immunity, Neuroscience, Cardiovascular & Metabolic and Rare Diseases itself, including rare cancers will be given priority as stated in the Operational Strategy of the NIHR BioResource. Age: 0 to 100 (within the limits of consent) Sex: any included Race and ethnicity: all included Religion or beliefs: all included Sexual orientation: all included
  • Exclusion Criteria : There will be no exclusion on the basis of age, sex, race, religion or sexual orientation. Patients with mental health and learning disabilities are included provided they are deemed competent to consent.
  • Study start date : 13/09/2012
  • Study end date : 31/03/2022
  • Wales-Based Study Contact : Not recruiting in Wales
  • Principal Investigator : Prof Krishe Chatterjee

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