About the rare disease programme
Which rare diseases were included?
Over 190 rare diseases were included in the Project. People invited to take part were thought to have one of these conditions. People who were invited to take part may have had a provisional diagnosis, but not a molecular diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms.
Download the list of rare diseasesView Eligibility Criteria
Skip to Rare Disease Documents
Rare Disease Documents
Project guide leaflets by speciality
Eligibility Guides to the 100,000 Genomes Project, by disease type:
- Cardiologists’ guide (Word) | Cardiologists’ guide (PDF)
- Dermatologists’ guide (Word)
- Neurologists’ guide (Word)
- Ophalmologists’ guide (Word)
- Renal disease guide (Word)
- Respiratory disease (Word)
- Eligibility Wheels (via HEE website, opens in a new tab) – tools to help identify eligible participants
Documents & useful links
- Rare Disease Eligibility Criteria
- List of Rare Diseases GMC version (PDF)
- Rare Disease Data Models (PDF)
- Latest Rare Disease Conditions Model Pack (ZIP)
- Guidelines on who to recruit from a rare disease family (PDF)
- Guidelines for rare disease model development and review (PDF)
- Genomics England Rare Disease Results Guide (PDF)
- The 100,000 Genomes Project Protocol