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 diseases
View 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:

  • Eligibility Wheels  (via HEE website, opens in a new tab) – tools to help identify eligible participants

Documents & useful links

More information