Rare Disease Day 2025

The National Disease Registration Service (NDRS) has played a crucial role in collecting, curating, and analysing data to improve understanding, enhance care, and support evidence-based policy and service planning for rare diseases.

In recognition of rare disease day 2025, below are some key NDRS updates on work relating rare disease data collection, registration and analysis.

Launch of the Rare Disease Data Set (RRDS)

Today NDRS launched a new Rare Disease Data Set (RDDS)  to enhance efficiency and scalability, as well as promoting consistency and standardisation of rare disease registration. This approach ensures timely and streamlined collection of vital rare disease data whilst minimising administrative burden for providers.  

England Rare Disease Action Plan 2025

Later today, 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 manages the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) and as a population-based rare disease register, is an important action plan delivery partner. 

Rare Conditions Registration Statistics

NDRS is committed to providing information to support service planning and treatment improvements for people with a rare disease in England, and will update the Rare Conditions Registration Statistics annually, updating previous year calculations and including additional conditions.  

Steven Hardy, Assistant Director Head of Genomics and Rare Disease for NDRS, describes the role of data in improving the experiences of people living with a rare disease. 

Read Steven's article on the NHS Digital website.