Rare Disease Data Set

The National Disease Registration Service (NDRS) is responsible for the collection, curation, quality assurance and analysis of comprehensive population-based rare disease data across England.  Rare disease registration at a national level is challenging for a number of reasons:

• >7000 rare diseases have been reported
• rare diseases can present at any age and to any medical speciality
• current health coding and classification systems are inadequate for rare diseases
• data is fragmented or non-existent

Despite the challenges, the COVID-19 pandemic demonstrated that high quality national rare disease data can be rapidly produced with minimal burden on providers by leveraging data linkage to routinely collected datasets.

To enhance efficiency and scalability, as well as promoting consistency and standardisation of rare disease registration, we have developed the Rare Disease Data Set (RDDS) to support providers in the submission of data to NDRS.  This approach ensures timely and streamlined data collection whilst minimising administrative burden for providers.  Importantly, our data set aligns well with the European Commission Set of Common Data Elements for Rare Disease Registration.

England Rare Disease Action Plan 2025

In February 2025, the Department of Health and Social Care (DHSC) will launch the fourth England rare disease action plan, to complement the 2021 UK Rare Disease Framework, setting out how the Department of Health and Social Care and delivery partners will implement the framework and provides new actions and and updates on the previous action plans. NDRS is an important action plan delivery partner. 

Project phases

Phase 1 - This will include data collection from Highly Specialised Services (HSS).

Setting up a data collection

If you are a Clinician and would like to submit your rare disorder data into the rare disease register please email [email protected] and a member of the team will get in contact. 

The standard submissions schedule is quarterly. Submission schedules may alter dependent on the condition or the requirements of the submitting service. Data should be submitted to [email protected]

We are committed to supporting our partners and continuously improving the RDDS. Your feedback and suggestions are always welcome. 

For help and support, please contact [email protected]

RDDS Data Liaison Contacts

Teams submitting data to NDRS can seek advice and support from the Data Liaison Contacts:

[email protected] – rare disease collection and submissions

[email protected] – genomic data collection and submissions