Rare diseases

Rare diseases affect 400 million people worldwide⁽³⁾, yet each individual journey is often defined by uncertainty, delayed diagnosis, and limited treatment options. For many patients and families, the impact goes far beyond the condition itself – shaping their daily life, long-term wellbeing and access to the care they need.

In rare diseases, where journeys are often complex and uncertain, we start by listening to patients and their caregivers, so their experiences can shape the solutions we develop. By combining advanced science with a focus on the real challenges patients face – from diagnosis through to long-term care – we work with healthcare professionals and partners to go beyond treatment, helping improve quality of life, while addressing the wider impact rare conditions have on families and healthcare systems.

Rare diseases affect 1 in 10 people⁽³⁾ and although each rare condition is uncommon on its own, their collective impact is significant. Our ambition is to become a point of reference for people affected by rare diseases and we are committed to addressing the gaps in rare disease care and improving outcomes for underserved communities.

Rare Inborn Errors of Metabolism

Rare inborn errors of metabolism are a group of genetic disorders that affect how the body processes nutrients and produces energy.^(5,6) These conditions are often progressive and can impact multiple organs, requiring lifelong management from an early age.^(5,6)

We focus on developing therapies that address the underlying causes of disease, including enzyme replacement approaches. By supporting earlier diagnosis through education and screening initiatives, we help people navigate the complexity of these conditions from an early stage.

Rare Conditions across Disease Areas

Rare conditions across Dermatology, Hematology, Ophthalmology and Immunodeficiency affect different systems of the body – from the skin and vision to the blood and immune system – and are often chronic, complex and life-limiting, with many beginning in childhood and requiring ongoing, multidisciplinary care.^(2,7,8)

Our work spans multiple therapeutic areas to support diverse patient needs. We invest in innovative treatments and critical partnerships that improve coordination of care, strengthen diagnosis, and raise awareness across these diverse conditions.

Rare Endo-Metabolic

Rare endo-metabolic disorders are conditions that disrupt hormonal balance and metabolic regulation, often leading to serious complications if not properly managed.^(9,10) These diseases can significantly affect quality of life and require continuous monitoring and treatment.⁽¹⁰⁾

We develop therapies to help manage these complex conditions and support long-term care. By combining scientific innovation with patient insight, we aim to improve quality of life throughout the patient journey.

_References

¹ _{NHS England Digital. What is a rare condition?: https://digital.nhs.uk/data-and-information/publications/statistical/rare-condition-registration-statistics/updated-to-2022/what-is-a-rare-condition}

² _{World Health Organization. Rare diseases: a global health priority for equity and inclusion.: https://apps.who.int/gb/ebwha/pdf_files/WHA78/A78_R11-en.pdf}

³ _{Global Genes. RARE Disease Facts.: https://globalgenes.org/rare-disease-facts/}

⁴ _{European Commission. The building blocks to make rare disease treatments more common.: https://projects.research-and-innovation.ec.europa.eu/en/horizon-magazine/building-blocks-make-rare-disease-treatments-more-common}

⁵ _{Ferreira CR & van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol. 2019;162:449-481.: https://pubmed.ncbi.nlm.nih.gov/31324325/}

⁶ _{National Human Genome Research Institute. About Inborn Errors of Metabolism.: https://www.genome.gov/Genetic-Disorders/Inborn-Errors-of-Metabolism}

⁷ _{EURORDIS. What is a rare disease?: https://www.eurordis.org/information-support/what-is-a-rare-disease/}

⁸_{Gunes D, et al. Challenges in the clinical management of rare diseases and center‑based multidisciplinary approach to creating solutions. Eur J Pediatr. 2025;184:281.: https://link.springer.com/article/10.1007/s00431-025-06101-z}

⁹ _{European Reference Network. Rare Endocrine Conditions.: https://endo-ern.eu/rare-endocrine-conditions/}

¹⁰ _{Reincke M & Hokken-Koelega A. Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease. Endocrine. 2021;71:539-541.: https://link.springer.com/article/10.1007/s12020-021-02652-x}

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Rare diseases

Rare Inborn Errors of Metabolism

Rare Conditions across Disease Areas

Rare Endo-Metabolic

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