The RECORDER group uses health data science and large-scale data to improve the lives of people with rare autoimmune rheumatic diseases and other rare diseases. RECORDER aims to bring about a paradigm shift in rare disease research, moving away from small and fragmented studies in rare diseases, usually conducted in specialist centres on unrepresentative patients, to whole nation studies using UK health data where everyone with a rare disease counts and can be counted.
The national impact of our work on rare diseases is demonstrated by inclusion in Department of Health and Social Care (DHSC) policy documents from 2019 onwards. RECORDER established the first rare disease research partnership with the National Disease Registration Service at NHS England, and collaborates with the British Heart Foundation (BHF) Data Science Centre. RECORDER projects use a wide range of NHS England, BHF Data Science Centre, CPRD and publicly available data sources.
Background
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 project 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 project 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.
Our projects cover a number of Rare Autoimmune Rheumatic diseases
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 priorities
Helping
patients
get a final diagnosis faster
Increasing
awareness
of rare diseases among healthcare professionals
Better
coordination
of care
Improving
access
to specialist care, treatments and drugs
