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Rare Diseases Q1 2024

Living with a rare disease: why the community voice matters

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Photo: Anna, living with a rare disease.
Sponsored by:
Photo: Anna, living with a rare disease.

Shane Doyle

SVP Operations and Sustainability, Alexion, AstraZeneca Rare Disease

Join us on Rare Disease Day, February 29, the rarest date, to shine a light on the challenges faced by the rare disease community, and to look at solutions to address the health inequalities they experience.

Rare diseases affect up to 400 million people across the world,1 and approximately 300,000 in Ireland.2 These diseases are often devastating, progressive, life-limiting and incurable. The journey to diagnosis can be long and convoluted and even once diagnosed, there is a lack of scientific understanding about many conditions and no meaningful treatment options for 90% of the estimated 10,000 rare diseases.3

Innovation will accelerate progress

Advances in science have enabled new life-changing and potentially curative treatments for rare and ultra-rare diseases. Developing a deep understanding of rare diseases is essential to drive innovation forward. Around 80% of rare diseases are believed to have a genetic origin,4 and cell and gene therapies are emerging as a new route for delivering the future medicines that patients need.

However, bringing new medicines to patients can only be realised and accessed if we apply sustainable practices — paired with the right healthcare infrastructure — and enabling processes. The landmark National Strategy for Accelerating Genetic and Genomic Medicine sets out a clear roadmap for harnessing the power of genomics to offer predictive, preventive and personalised care for Irish patients. In rare diseases, this has the potential to mean a faster and more accurate diagnosis that can then inform decisions about treatment, care and support.

Around 80% of rare diseases are
believed to have a genetic origin.

Patients’ voices matter

In recognition of the complex challenges faced by people affected by rare conditions, the Irish Government is supporting the creation of a new Rare Disease Plan for Ireland in 2024. It is encouraging to see the strong commitment to getting input from patients and carers to the Plan through a dedicated Patient Forum and ensuring their views and experiences help to inform the content.5

This collaborative approach will need to extend from the development phase through to implementation. Patient input and engagement in all stages of the process will be critical if we are to achieve the step-change needed for the rare disease community.

[1] Nguengang Wakap S et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173.
[2] NRDO Patients and families. What is a rare disease? Available at:,disease%20can%20have%20many%20questions.
[3] Rare-X. (2022). The Power of Being Counted Report. Available at:
[4] Global Genes. Rare Disease Facts. Available at:
[5] (2023). Minister for Health announces the establishment of the National Rare Disease Steering Group. Available at:,into%20the%20national%20health%20service

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