The study found eight rare diseases associated with increased risk of Covid-19-related mortality. Credit: imageBROKER/Berit Kessler via Getty Images.

Researchers in the UK are calling for better inclusion of rare diseases in public health strategies, including pandemic planning, vaccination policies, and National Health Service (NHS) service provision.

A study led by University College London (UCL) and the University of Glasgow, analysed electronic health records (EHRs) of over 58 million people in England. The findings identified eight rare diseases associated with a significantly increased risk of Covid-19-related mortality among fully vaccinated individuals.

The researchers said public health strategies during the pandemic often overlooked individuals with rare diseases. The UK’s shielding list, which identified clinically vulnerable individuals for additional protections, excluded most rare diseases. This left many high-risk individuals without necessary public health guidance or support. Researchers argue that better integration of rare disease data into health planning could improve early detection, intervention, and treatment strategies.

The conditions carrying the highest risk included bullous pemphigoid, an autoimmune skin disease, osteogenesis imperfecta, a genetic bone disorder, and autosomal dominant polycystic kidney disease. Overall, individuals with rare diseases were found to be nearly five times more likely to die from Covid-19 than the general population. The study also highlighted disparities in health outcomes among specific ethnic groups in which some rare diseases were disproportionately common.

The study was conducted in in collaboration with the British Heart Foundation (BHF) Data Science Centre at Health Data Research UK (HDR UK).

Lead author of the study Johan Thygesen, professor at UCL’s institute of health informatics highlighted the study’s role in addressing critical knowledge gaps in rare disease prevalence and health risks: “So much fundamental population-level information about rare diseases – such as general prevalence and gender and ethnicity differences – remains unknown. This lack of data was especially problematic during the pandemic, as it is crucial for healthcare planning.”

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Rare diseases have historically been difficult to study due to their low prevalence and a lack of large-scale data. Diagnosis delays and data gaps have contributed to the challenges faced by researchers and policymakers. The study leveraged the NHS’s extensive health data infrastructure, which allowed for a more comprehensive population-wide analysis. However, researchers noted that the study period spanned two waves of the pandemic, making it difficult to differentiate the effects of different SAES-CoV-2 variants and overlapping symptoms from multiple illnesses.

In 2021, the UK government released its Rare Diseases Framework in 2021 to improve research, access to treatments, and patient support. The framework emphasised the importance of incorporating patient experiences to shape future policy, particularly in light of the pandemic.. In 2024, the Sunak government introduced the England Rare Diseases Action Plan, which also endeavoured to enhance research and healthcare provision for rare disease patients. However, the current Secretary of State for Health, Wes Streeting, has not yet outlined specific measures related to rare diseases.

The UK government has highlighted its broad efforts to bolster pandemic preparedness. In November 2024, Oxford Nanopore announced a strategic partnership with the UK government, Genomics England, UK Biobank, and NHS England. The collaboration aims to integrate genomics-based research into the NHS, and to create an ‘early warning system’ for future pandemics across the UK.