About the rare disease programme
Which rare diseases are included?
Over 190 rare diseases are currently included in the Project. People invited to take part will be thought to have one of these conditions. People who are invited to take part may have a provisional diagnosis, but not a molecular diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms. This list is regularly updated.
Download the list of rare diseasesView Eligibility Criteria
Skip to Rare Disease Documents
Nominating a disease
Scientists or clinicians expert in the relevant disease (as well as patients, members of the public, lay members of patient groups or charities) can work together to nominate a condition to be included in the 100,000 Genomes Project.
If you think that a condition should be included, the disease nomination form can be completed by a clinician at an NHS Genomic Medicine Centre, or a researcher in one of our partnerships. The Genomics England Science Team is very happy to work with you and relevant parties to develop the application.
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
