Rare disease projects

The BioResource has built patient cohorts, including relatives, for more than 60 rare diseases.

The table below lists each rare disease cohort, the number of (active?) participants, how many have completed a Clinical Report Form (CRF), and whether participants are adult, paediatric or both.

All groups are available for recall studies.

If you have any questions, please email: rarediseases@bioresource.nihr.ac.uk.

Project codeRare disease projectParticipantsCRFs completedAdult/Paediatric/Both
RDC-AATAlph-1 Antitrypsin Deficiency


RDC-AIVAutoimmune Vasculitis


RDC-AMCArthrogryposis


RDC-ATGAtaxia Telangiectasia


RDC-BCARefractoriness First-line Treatment for Blood Cell Autoimmunity


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