Advancing rare disease innovation

Rare Diseases R&D Strategy

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Pioneering new possibilities for rare diseases

We innovate on behalf of patients and families living with rare diseases and follow the science with the goal of delivering potentially life-changing medicines for this community.

 We do this because the unmet need in rare disease is high, marked by complex biology, limited data, a lack of approved treatments, and prolonged, complex diagnostic journeys. 


400 million+

people live with rare diseases

90%

of the 10,000 known rare diseases do not have an approved treatment

80%

of rare diseases are associated with underlying genetic causes

5+

years and seven visits to specialists on average to receive a correct diagnosis


A rare approach: Embracing uncertainty, leading with a commitment to patients

We embrace the uncertainty of exploring disease states where scientific progress has stalled, and where patients have limited – or no – treatment options.

We do this because the unmet need in rare disease is high, marked by complex biology, limited data, prolonged complex diagnostics journeys, and a lack of approved treatments.





Connecting with patients helps shape how we design clinical trials, deepens our understanding of their conditions and helps guide us to measure what matters to them.

Gianluca Pirozzi Senior Vice President, Head of Development, Regulatory and Safety at Alexion, AstraZeneca Rare Disease

Finding new ways to address unmet clinical need

Exploring new treatment approaches is a fundamental area of focus for rare diseases, because there is often no existing therapy. We innovate with a pioneering spirit across diverse areas of unmet need, exploring the curative potential of genomic medicines , cell therapy and advancing new ways to deliver a broader range of treatment options to help more people.



For a majority of the diseases that we are contemplating, it will be the first time developing potential treatments for these patients and conditions. That makes commitment and urgency essential as we work to bring these solutions to fruition.

Seng H. Cheng Senior Vice President, Research and Product Development at Alexion, AstraZeneca Rare Disease

Driving scientific innovation in rare disease



Leading in complement science
 

With strong infrastructure and a commitment to follow the science, we advance innovative approaches with the greatest potential for rare conditions with limited progress or few treatment options—aiming for transformative outcomes for patients.



Removing barriers to treatment with advanced diagnostics

A significant challenge facing the rare disease community is how long it takes to receive an accurate diagnosis.

We are integrating AI to advance genomic newborn screening initiatives with the goal of improving diagnosis for rare disease patients.



Pushing the boundaries of science with genomics

It allows researchers to target the genetic causes of rare diseases, with the potential to change how a disease progresses, and support longer-lasting treatment.



What is the complement system?

The complement system is part of the immune system and essential to the body’s defence against infection. When this system is thrown out of balance, or dysregulated, it can be a key driver of many devastating diseases. We were the first to translate the complex biology of the complement system into transformative medicines.



Are you a clinical trial participant?

If you are looking for trial information on rare diseases, please visit our clinical trials website. https://alexion.com/clinical-trials




Three organisations. One aim.

Our R&D approach brings together our BioPharmaceuticals, Oncology and Rare Disease R&D organisations with a shared purpose: to lead the process from drug discovery through to clinical development and deliver potentially life-changing medicines to the patients.



Our R&D approach

Driven by a commitment to push the boundaries of science to deliver potentially life-changing medicines for patients, we aim to transform patient care through early screening, prevention, and treatment.
 




BioPharmaceuticals R&D

Driving a strategy that aims to shift from reactive sick care to proactive healthcare by focusing on cardiovascular, renal and metabolism (CVRM) diseases, respiratory diseases and immunology, and infectious diseases.




Oncology R&D

Striving to redefine cancer care and, one day, eliminate cancer as a cause of death, through precision science, pioneering technologies, a strategic pipeline attacking cancer from multiple angles and targeting drivers of disease.



Innovate with us

We welcome dedicated and innovative talent to push the frontiers of science and address the high unmet need in rare diseases.


Veeva ID: Z4-80895
Date of preparation: August 2026