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Rare disease

Our mission is to transform the lives of people affected by rare diseases and devastating conditions. By understanding patients’ unique needs, we can research and develop innovative medicines, support access and advocate for the rare disease community. In the UK we are guided by our ambition to transform population health through equitable access to high-quality care, as we believe all patients should have access to the most effective medicines, regardless of how rare their condition is relative to the wider population.

We believe it is our responsibility to listen, to understand, and change the lives of patients living with rare disease, and to support those who work tirelessly to help them.

Understanding the individual needs of those living with rare disease is essential to improving the patient experience. Genetic testing has the potential to transform outcomes, and this is why we are collaborating with the NHS across areas such as precision medicine and genomics to ensure that patients receive access to novel and targeted medicines that are tailored to their genetic profile.

It is only through continued collaborative knowledge-sharing across industry, academia, and policy, that AstraZeneca and Alexion can work in partnership to achieve our shared goal of the implementation of potentially practice-changing healthcare solutions that can be taken to scale by the NHS to help address areas of unmet need in rare disease in the UK.

UK stats about the unmet need in rare disease

One in 17 people are affected by a rare disease which equates to approximately 3.5 million people in the UK.¹

6,000 children are born with an unnamed syndrome in the UK every year.²

Of an estimated 10,867 rare diseases in existence,³ 75% affect children.⁴

On average, it takes over four years to receive an accurate diagnosis for a rare disease.⁵

With 80% of rare diseases believed to have a genetic component, genomics can be essential to deliver a faster and more accurate diagnosis.⁶

95% of rare diseases do not have a treatment available.⁷

Click here to learn more about our work with Alexion Pharmaceuticals in rare diseases in the UK

Rare Disease UK. What is a rare disease? Available at: https://www.raredisease.org.uk/what-is-a-rare-disease/ #:~:text=in%20their%20lives-,1%20in%2017%20people*%20will%20be%20affected%20by%20a%20rare,classed%20as%20rare%20(3) Last accessed February 2025
BBC, 6,000 children are born in the UK each year with a syndrome without a name. Available at: https://www.bbc.com/future/article/20230807-undiagnosed-diseases-the-mysterious-syndromes-without-a-name . Last accessed February 2025.
Lamoreaux, K; Sebastien Lefebvre, MS; Levine, DS; Erler, W; Hume, T. (2020) RareX: The Power of Being Counted. Accessed from https://rare-x.org/ blog/2022/06/07/the-power-of-being-counted-report/. Last accessed February 2025
Department of Health and Social Care. England Rare Diseases Action Plan 2024. Available at: https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2024/england-rare-diseases-action-plan-2024-main-report . Last accessed February 2025.
Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022;14:23. https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01026-w. Last accessed February 2025
GOV.UK. Millions of people with rare diseases to benefit from faster diagnosis and better access to treatment. Available at: https://www.gov.uk/government/news/millions-of-people-with-rare-diseases-to-benefit-from-faster-diagnosis-and-better-access-to-treatment. Last accessed February 2025.
Spotlight on rare diseases. Lancet Diabetes Endocrinol. 2019;7(2):75. https://www.thelancet.com/journals/landia/article/PIIS2213-8587(19)30006-3/fulltext. Last accessed February 2025

GB-63913 | DOP: February 2025

GB-69529 | DOP: August 2025

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