RECORDER – Researching Rare Diseases

The RECORDER team: using health data science and large-scale data to improve the lives of people with rare autoimmune rheumatic diseases and other rare diseases. 

This team’s work uses national electronic health records to register and improve the health and care of people with rare diseases.

The work is a collaboration between the University of Nottingham, Nottingham University Hospitals NHS Trust, the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) and researchers in other institutions.

A rare disease is defined as one that affects fewer than 1 in 2,000 people but there are many rare diseases and, in the UK, 1 in 17 people will be affected by a rare disease. Health outcomes are poor for people with one of these diseases and their rarity makes research difficult.

Rare autoimmune rheumatic diseases (RAIRD) are rare, non-genetic diseases that usually start in adulthood and can be difficult to diagnose. But the data on patients with these sorts of rare disease is patchy and disjointed – for some, we don’t even know basic information like how many people have it, how they’re being treated and where. Without this fundamental patient data, it is hard to plan and target healthcare services or to run clinical trials to find new and effective treatments.

Information about rare disease patients often already exists, the problem is that it is collected by different systems that don’t talk to each other. Not all patients are seen by specialist centres, so data is disparate, and most rare diseases lack standard codes that would allow them to be identified in health and care data.

All of this means that patients with rare diseases wait longer for the right diagnosis and treatment than those patients with more common conditions, and that the treatment they do receive isn’t always well supported by evidence.

The RECORDER team works collaboratively with the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), and with hospitals, patients and clinicians from across England to join-up existing clinical and administrative data. Using this patient-level data, the team is working to find out how many cases of particular rare autoimmune rheumatic diseases hospitals in England are treating, where they are and what care these patients are receiving. With this information, the team can build up a more detailed picture – both of the disease and of clinician and patient needs – which also helps to improve the quality and completeness of the NCARDRS dataset for other researchers and offers a great model for future collaborations.

RECORDER is developing important insights that help health services to better understand rare diseases and anticipate demand for potentially life-saving treatment, and allow researchers to identify opportunities to trial new interventions. The hope is that this will mean faster diagnosis and treatment of patients with rare diseases, more research that better meets the needs of both patients and clinicians, and more effective evidence-based care.

Our current work:

Project Team

Project Details

Start Date: 01/02/2021

End Date: 17/05/2026

Funders: NIHR, MRC, Versus Arthritis, Vasculitis UK, Lupus UK, Scleroderma Raynaud’s UK, British Society for Rheumatology, Vifor Pharma

Predictive models in perioperative medicine

HDR Midlands Project

PATHWAY – UHB Health Data Research Hub

HDR Midlands Project

West Midlands Secure Data Environment

HDR Midlands Project