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Home Science & Environment Medical Research

Large-scale data analysis links rare diseases to higher COVID-19 mortality risk

January 30, 2025
in Medical Research
Reading Time: 3 mins read
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Credit: Unsplash/CC0 Public Domain

An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals. This important research calls for better inclusion of rare diseases in public health strategies, including future pandemic planning, vaccination policies, and NHS service provision.

The research was published in The Lancet Digital Health.

Historically, rare diseases have been difficult to study and neglected in research, in part due to a lack of large-scale data. This means that people living with rare conditions often struggle to get the treatment and support they need. Additionally, rare disease patients were overlooked in public health planning—for example, during the COVID-19 lockdown periods, the UK’s shielding list excluded most rare diseases, failing to protect highly vulnerable individuals.

Researchers at UCL (University College London) and the University of Glasgow set out to harness the power of large-scale linked data, to uncover new insights into rare diseases.

Using linked electronic health records (EHRs), they investigated the prevalence of rare diseases across the population, and the risks that COVID-19 may pose to people with these conditions.

They uncovered eight rare diseases linked with an increased risk of dying from COVID-19, and found that people with rare diseases were nearly five times more likely to die from COVID-19 than the general population. The conditions carrying the highest risk were infertility disorders and kidney diseases.

The rarity of some diseases can contribute to a lack of comprehensive data due to lengthy waits for diagnosis. And as the study period spans two ‘waves’ of the pandemic, it’s difficult to untangle the effects of different COVID-19 variants, as well as overlapping symptoms in multiple illnesses.

However, this study takes advantage of one of our health system’s unique strengths, having population-wide granular data coverage in EHRs and diversity in representation, highlighting significant health inequalities faced by specific ethnic groups in which some rare diseases were disproportionately common.

It’s also the first time an analysis has been performed on so many rare diseases, and the impact of COVID-19 on the people with such conditions, a landmark moment for rare disease research.

Living with a rare disease can be extremely challenging, from a difficult diagnosis to relentless appointments to manage health and well-being. But these findings fill a critical knowledge gap, emphasizing the power of electronic health record data to bring to light the prevalence and outcomes of rare diseases.

Co-author Professor Honghan Wu, University of Glasgow and formerly UCL, said, “Early detection means earlier intervention and better treatment and support. The ability to link data gives us deeper understanding, and allows us to spot individuals who would otherwise have slipped through the net.

“So research harnessing NHS data for impact through linking EHRs has enormous potential to inform care and public health decision-making, beyond the COVID-19 pandemic, especially for patient populations that are far too often neglected.”

More information:
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study, The Lancet Digital Health (2025). www.thelancet.com/journals/lan … (24)00253-X/fulltext

Provided by
Health Data Research UK

Citation:
Large-scale data analysis links rare diseases to higher COVID-19 mortality risk (2025, January 29)
retrieved 29 January 2025
from https://medicalxpress.com/news/2025-01-large-scale-analysis-links-rare.html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no
part may be reproduced without the written permission. The content is provided for information purposes only.



global disease
Credit: Unsplash/CC0 Public Domain

An England-wide study of over 58 million people has identified eight rare diseases that carry significantly increased risks for COVID-19-related mortality in fully vaccinated individuals. This important research calls for better inclusion of rare diseases in public health strategies, including future pandemic planning, vaccination policies, and NHS service provision.

The research was published in The Lancet Digital Health.

Historically, rare diseases have been difficult to study and neglected in research, in part due to a lack of large-scale data. This means that people living with rare conditions often struggle to get the treatment and support they need. Additionally, rare disease patients were overlooked in public health planning—for example, during the COVID-19 lockdown periods, the UK’s shielding list excluded most rare diseases, failing to protect highly vulnerable individuals.

Researchers at UCL (University College London) and the University of Glasgow set out to harness the power of large-scale linked data, to uncover new insights into rare diseases.

Using linked electronic health records (EHRs), they investigated the prevalence of rare diseases across the population, and the risks that COVID-19 may pose to people with these conditions.

They uncovered eight rare diseases linked with an increased risk of dying from COVID-19, and found that people with rare diseases were nearly five times more likely to die from COVID-19 than the general population. The conditions carrying the highest risk were infertility disorders and kidney diseases.

The rarity of some diseases can contribute to a lack of comprehensive data due to lengthy waits for diagnosis. And as the study period spans two ‘waves’ of the pandemic, it’s difficult to untangle the effects of different COVID-19 variants, as well as overlapping symptoms in multiple illnesses.

However, this study takes advantage of one of our health system’s unique strengths, having population-wide granular data coverage in EHRs and diversity in representation, highlighting significant health inequalities faced by specific ethnic groups in which some rare diseases were disproportionately common.

It’s also the first time an analysis has been performed on so many rare diseases, and the impact of COVID-19 on the people with such conditions, a landmark moment for rare disease research.

Living with a rare disease can be extremely challenging, from a difficult diagnosis to relentless appointments to manage health and well-being. But these findings fill a critical knowledge gap, emphasizing the power of electronic health record data to bring to light the prevalence and outcomes of rare diseases.

Co-author Professor Honghan Wu, University of Glasgow and formerly UCL, said, “Early detection means earlier intervention and better treatment and support. The ability to link data gives us deeper understanding, and allows us to spot individuals who would otherwise have slipped through the net.

“So research harnessing NHS data for impact through linking EHRs has enormous potential to inform care and public health decision-making, beyond the COVID-19 pandemic, especially for patient populations that are far too often neglected.”

More information:
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational study, The Lancet Digital Health (2025). www.thelancet.com/journals/lan … (24)00253-X/fulltext

Provided by
Health Data Research UK

Citation:
Large-scale data analysis links rare diseases to higher COVID-19 mortality risk (2025, January 29)
retrieved 29 January 2025
from https://medicalxpress.com/news/2025-01-large-scale-analysis-links-rare.html

This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no
part may be reproduced without the written permission. The content is provided for information purposes only.


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