Semantic Coherence: Alexion, AstraZeneca Rare Disease – Signal Evidence & AI Readability

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Pioneering new possibilities for the rare disease community

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More than 400 Million People Live with a Rare Disease

Living with Rare

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Leading the Charge in Rare Disease Research

Rare Disease Research & Development

Our Mission

We are pioneering new possibilities for the rare disease community.

Our Innovation

[H2] Pushing the Boundaries of Science

Our research and development is fueled by a relentless sense of urgency and an steadfast commitment to helping more rare disease patients and their families around the world.Learn how we are addressing some of today’s most pressing rare disease challenges by investigating in new targets, modalities and technologies, with more opportunities for innovation than ever before.

Our Innovation in Rare

[H2] Featured Stories

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Health Equity
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May 21, 2026

Understanding treatment impact and addressing disparities in rare disease care

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Article
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May 11, 2026

Tina’s Big Trip

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Article
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February 03, 2026

Pioneering new possibilities for the rare disease community

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Clinical Trials
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October 28, 2025

Shaping the future of R&D with real world insights into rare disease

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Diagnostics
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September 17, 2025

Genomic Innovation to Support Newborn Screening of Rare Diseases

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Thought Leadership
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June 11, 2025

[H3] Paving Regulatory Pathways in Rare Disease

Many rare disease medicines are often a first of their kind, and a clear roadmap for their development and approval does not exist. Navigating the complex and sometimes unprecedented regulatory environment for rare disease requires innovation, collaboration and a patient-first mindset.

Media [News]
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April 10, 2025

[H3] Advancing Rare Disease Research Through Patient-Centric Trial Design

As Head of Development, Regulatory and Safety at Alexion, Gianluca Pirozzi channels his life’s experience with rare disease to inform his work at Alexion, ensuring clinical programmes are fueled by a patient-focused mindset.

Patient Support
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February 05, 2025

[H3] Addressing the Unmet Needs of the Amyloidosis Community

We spoke with Cristina Quarta, Executive Medical Director, about a group of rare diseases known as amyloidosis, the medical needs within this community and how her work as a cardiologist shapes her approach to research and development (R&D) for rare cardiac conditions.

Research and Development
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September 18, 2024

[H3] Getting to know Nick France, an Alexion R&D Leading Voice

To create meaningful advances in rare disease research, it takes an innovative culture, strong collaboration, and a patient-centric vision for delivering transformational solutions. At Alexion, these pillars are important to successfully develop impactful medicines for patients.

Patient Support
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June 25, 2024

[H3] Getting to know Chathuri Daluwatte, an Alexion R&D Leading Voice

Artificial Intelligence (AI) is rapidly advancing and has the potential to have a transformative impact on clinical research and development (R&D).

Research and Development
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June 08, 2024

[H3] Getting to know Seng Cheng, an Alexion R&D Leading Voice

There is a sense of urgency that underlies research in rare diseases, because these diseases are often rapidly progressive.

Patient Support
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April 18, 2024

[H3] Getting to know Sophia Zilber, Associate Director, Statistical Programming

The voices and perspectives of patients play an essential role in rare disease research and development (R&D).

Patient Support
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April 16, 2024

[H3] Getting to know Banu Sankaran, an Alexion R&D Leading Voice

Diagnostics and artificial intelligence (AI) systems are transforming research and development (R&D) in the healthcare industry.

Health Equity
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February 06, 2024

[H3] Driving health equity for the rare disease community

Collectively, more than 400 million people around the world are living with a rare disease, defined as conditions that affect a small number of people compared to the general population.

Clinical Trials
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November 07, 2023

[H3] Understanding & Overcoming the Challenges in Rare Disease Clinical Trials

Why is conducting clinical trials for rare diseases difficult? Because studying a rare disease poses unique challenges and requires thinking differently.

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News Centre Resources

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Living with Rare Disease

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Patient-Focused Innovators

Cultivating deep connections to integrate their insights and lived experience into everything we do.

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Co-creating Community Solutions

Understanding the challenges of a rare diagnosis and the journey that follows is critical to the work we do. That's why we partner so closely with patients and caregivers to ensure it's their stories and experiences that inform our research and development.
Our partnerships with the rare disease community are essential to addressing the unique burdens facing the rare disease community.  Together we co-create solutions and amplify awareness, while shaping policies and ecosystems needed to advance access to innovation.

[H2] Did you know?

With more than 400 million people worldwide living with a rare disease, and 10,000 rare diseases known to exist today, rare diseases are not as rare as we may think.1

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Rare Disease by the Numbers

References.1-5

10,000+

rare diseases that we know of

~ 5 Years

on average, and often more, to get an accurate rare disease diagnosis

1 in 2

patients diagnosed with a rare disease is a child

80%

of rare diseases are genetic

90%

of rare diseases do not have an approved treatment

[H2] Striving for Equity in Rare

People living with rare diseases can face significant challenges like lack of treatment options and access to care. These challenges weigh even more heavily on racial and ethnic minorities and marginalized groups, leading to economic hardship, difficulty accessing care, and poorer outcomes for both patients and caregivers.6-8

Explore Health Equity in Rare

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References

Rare disease facts [Internet]. 2024 [cited 2024 Jan 17]. Available from: https://globalgenes.org/rare-disease-facts
Fermaglich LJ, et al. A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act. Orphanet J Rare Dis. 2023;18(1):163.
U.S. Department of Health & Human Services. About GARD. Available here. Accessed December 2024.
National Organization for Rare Disorders. Barriers to rare disease diagnosis, care and treatment in the US: a 30-year comparative analysis. Available here. Accessed December 2024.
National Human Genome Research Institute. Rare genetic diseases. Available here. Accessed December 2024.
EveryLife Foundation for Rare Diseases. Challenges to diversity in rare diseases. Available here. Accessed December 2024.
Rare Disease Diversity Coalition. Inequities in the rare disease community. Available here. Accessed December 2024.
Office of the Assistant Secretary for Planning and Evaluation. Participant diversity by race, ethnicity, and sex in rare disease clinical trials: a case study of eight rare cancers. Available here. Accessed December 2024.

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Innovation

[H3] Data Science and AI

Learn how AI has the potential to accelerate the pace of discovery and development.

[H3] Diagnostics

Explore ways we are helping to shorten the diagnostic journey for people living with rare disease.

[H3] Genomics

Leveraging knowledge of the genome to potentially address rare diseases with a genetic cause.

Veeva ID: GL/ALL/0057