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Rare disease – for staff

Here you can find important clinical information which you may find useful. This section has been created for clinicians and healthcare professionals.

See full Rare Disease eligibility criteria here 

100,000 Genomes Project Eligibility Wheels


New reference guides to identify patients / participants eligible to take part in the 100,000 Genomes Project.  The GEP, in collaboration with University Hospitals Leicester, have developed a series of easy reference tools to identify patients/participants eligible to take part in the 100,000 Genomes Project. Aimed at any staff recruiting patients within GMCs or local delivery partners, the wheels have been developed in-line with the most recent changes to the Project’s eligibility criteria.

The eligibility wheels have brought together conditions that would be seen by specific physicians in a clinical setting.

The first series of wheels to be delivered feature:

  • Cardiovascular disorders
  • Ciliopathies
  • Rheumatological disorders
  • Skeletal disorders

Additional sets of wheels, covering a variety of conditions, will be delivered monthly until March 2017. You can view the first ten wheels on the  website

For a more detailed recruitment guide check out the documents bellow for a step by step guide. The links below are all Word documents unless otherwise stated.

If you are unable to find the document that you need, please contact us today.

For a guide on how to refer a Rare Disease patient into the study for Genomic follow this Guide on how to refer into the 100,000 Genome Project.

For specialty specific guides please see bellow for the Headline documents with the core information on the most common disease within the specialty;

Dermatology Eligibility Headline

Cardiology Eligibility Headline

Diabetes Eligibility Headline

Endocrine Eligibility Headline

Paediatrics Eligibility Headline